Ehlers-Danlos Syndrome: Difference between revisions

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== Introduction  ==
== Introduction  ==
[[File:Ehlers-Danlos syndrome.png|right|frameless]]
[[File:Ehlers-Danlos syndrome.png|alt=aHyper-elastic skin in a person with Ehlers-Danlos syndrome.|thumb|aHyper-elastic skin in a person with Ehlers-Danlos syndrome.]]
Ehlers Danlos syndrome (EDS) is a group of hereditary connective tissue disorders which manifests clinically with skin hyperelasticity, hypermobility of joints, atrophic scarring, and fragility of blood vessels. It is largely diagnosed clinically, although identification of the gene encoding the collagen or proteins interacting with it is necessary to identify the type of EDS. It is important to identify the type of EDS to guide management and counseling<ref name=":0">Miklovic T, Sieg VC. [https://www.ncbi.nlm.nih.gov/books/NBK549814/ Ehlers danlos syndrome.]2020 Available from: https://www.ncbi.nlm.nih.gov/books/NBK549814/<nowiki/>( last accessed 22.2.2021)</ref><ref name="eMed">Steiner RD. Ehlers-Danlos Syndrome. http://emedicine.medscape.com/article/943567-overview (Accessed Feb 15, 2010).</ref>
[[File:Hypermobility 1.png|alt=These 3 pictures depict some hypermobility traits: the ability to put hands in the "prayer" position behind the back, W sitting (sitting with knees bent and the legs splayed on either side), a "double-jointed" little finger, and the ability to touch the thumb to the wrist of the same hand.|thumb|These 3 pictures depict some hypermobility traits: the ability to put hands in the "prayer" position behind the back, W sitting (sitting with knees bent and the legs splayed on either side), a "double-jointed" little finger, and the ability to touch the thumb to the wrist of the same hand.]]
Ehlers Danlos syndrome (EDS) is a group of hereditary [[Connective Tissue Disorders|connective tissue disorder]]<nowiki/>s which manifests clinically with [[skin]] hyper-elasticity, [[Hypermobility Syndrome|hypermobility]] of joints, atrophic scarring, and fragility of [[Cardiovascular System|blood vessels]].


Image: Hyperelastic skin in a person with Ehlers-Danlos syndrome.
It is largely diagnosed clinically, although identification of the [[Genetic Disorders|gene]] encoding the [[collagen]] or proteins interacting with it is necessary to identify the type of EDS. It is important to identify the type of EDS to guide management and counselling<ref name=":0">Miklovic T, Sieg VC. [https://www.ncbi.nlm.nih.gov/books/NBK549814/ Ehlers danlos syndrome.] InStatPearls [Internet] 2021 Jul 10. StatPearls Publishing.</ref><ref name="eMed">Steiner RD. Ehlers-Danlos Syndrome. http://emedicine.medscape.com/article/943567-overview (Accessed Feb 15, 2010).</ref>
== Epidemiology  ==
== Epidemiology  ==


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* There are other forms of EDS that are very rare. These include the arthrochalasia, kyphoscoliosis, dermatosparaxis, and vascular types. Currently, only 30 cases of the arthrochalasia and 60 cases of kyphoscoliosis have been reported worldwide.  
* There are other forms of EDS that are very rare. These include the arthrochalasia, kyphoscoliosis, dermatosparaxis, and vascular types. Currently, only 30 cases of the arthrochalasia and 60 cases of kyphoscoliosis have been reported worldwide.  
* The vascular type is the rarest form, affecting about 1 in 250,000 people worldwide. <ref name="EDS Genetics">Ehlers-Danlos syndrome. Genetics Home Reference. 2017. Accessed March 2017. Available from: https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome#statisticshttps://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome#statistics</ref>
* The vascular type is the rarest form, affecting about 1 in 250,000 people worldwide. <ref name="EDS Genetics">Ehlers-Danlos syndrome. Genetics Home Reference. 2017. Accessed March 2017. Available from: https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome#statisticshttps://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome#statistics</ref>
* While there is no cure for the Ehlers-Danlos syndromes, there is treatment for symptoms, and there are preventative measures that are helpful for most.


== Pathophysiology ==
== Pathophysiology ==
[[File:Hypermobility 1.png|right|frameless]]
The pathophysiology of most Ehlers Danlos syndrome subtypes involves heritable mutations in [[collagen]] synthesis and/or processing<ref>Malfait F, Paepe AD. [https://link.springer.com/chapter/10.1007/978-94-007-7893-1_9 The ehlers-danlos syndrome. Progress in heritable soft connective tissue diseases.] 2014:129-43.</ref>.  
The pathophysiology of most Ehlers Danlos syndrome subtypes involves heritable mutations in collagen synthesis and/or processing.  
* The inheritance pattern of these mutations is variable, including autosomal dominant and recessive inheritance involving different mutations; there are reports of spontaneous mutations causing identical genotypes and phenotypes.  
* The inheritance pattern of these mutations is variable, including autosomal dominant and recessive inheritance involving different mutations; there are reports of spontaneous mutations causing identical genotypes and phenotypes.  
* The collagen affected by these mutations is integral to every body system, from the skin to the integrity of the vasculature, and as such, the symptoms of the disease can be variable and widespread.
* The collagen affected by these mutations is integral to every body system, from the skin to the integrity of the vasculature, and as such, the symptoms of the disease can be variable and widespread.
Image 2: These 3 pictures depict 4 hypermobility traits: the ability to put hands in the "prayer" position behind the back, W sitting (sitting with knees bent and the legs splayed on either side), a double-jointed little finger, and the ability to touch the thumb to the wrist of the same hand.
== Characteristics/Clinical Presentation  ==
== Characteristics/Clinical Presentation  ==
[[Image:EDS2.jpg|right|frameless]]Patient presentations vary widely based on the respective underlying subtype. Ehlers-Danlos Syndrome contains at least six discernible phenotypes that are individually recognized.&nbsp; Each type contains characteristics similar to the others.&nbsp;Each specific&nbsp;type&nbsp;presents with the same general&nbsp;clinical characteristics that are&nbsp;a result of faulty or reduced amounts of&nbsp;Type III collagen in the body:<ref name="eMed" /><ref name="Gene Classic" /><ref name="Gene Hyper" /><ref name="Gene Kypho" /><ref name="Gene Vascular" /><ref name="Voermans et al">Voermans N, Knoop H, van de Kamp N, Hamel B, Bleijenberg G, van Engelen B. Fatigue Is a Frequent and Clinically Relevant Problem in Ehlers-Danlos Syndrome. 2010;30(3):267-274</ref> (Skin hyperextensibility and hyperflexible joints are two of the most common presenting signs of EDS).
[[Image:EDS2.jpg|alt=|thumb|Hyperextension from the PIPJs]]Patient presentations vary widely based on the respective underlying subtype.  
* [[Image:EDS3.jpg|thumb|right]]Cutaneous manifestations are the hallmark of Ehlers-Danlos syndrome: include hyperextensibility, smooth and velvet-like texture, fragility, delayed wound healing, and thin atrophic scars after wound healing.
* Common musculoskeletal manifestations include hypermobility leading to repeated subluxation and dislocation, which can lead to early osteoarthritis and chronic pain. This hypermobility may manifest as early as peripartum with hip dislocations in the newly delivered infant. Recurrent fractures may also be present.
* Other tissues are subject to friability due to the underlying collagen dysfunction, including both hollow and solid internal organs. They can be subject to both spontaneous and traumatic rupture or perforation. Additionally, hernias and rectal prolapse are common features.
* [[Image:EDS1.jpg|thumb]]Classic facies include down slanting palpebral fissures, epicanthal folds, blue sclera, the appearance of premature aging, and micrognathia.
* Neurological manifestations include hypotonia, which may manifest in the developing child as delayed motor milestones such as walking. Generalized pain, insomnia, and chronic fatigue are also prevalent.
* Cardiovascular manifestations include mitral valve prolapse and, less commonly, tricuspid valve prolapse. Aortic root dilation is also a common feature that can lead to rupture without or without trauma. Other vessels, such as intracranial arteries, may be aneurysmal, predisposing them to rupture. Capillary fragility may manifest as easy bruising and bleeding without underlying bleeding diathesis<ref name=":0" />.
* [http://www.physiospot.com/research/chronic-pain-in-patients-with-the-hypermobility-type-of-ehlers-danlos-syndrome/ Chronic Pain may be present in patients with the Hypermobility Type of Ehlers-Danlos].<ref name="Rombaut">Rombaut L, Scheper M, De Wandele I, De Vries J, Meeus M, Malfait F, Engelbert R, Calders P. Chronic pain in patients with the hypermobility type ofEhlers-Danlos syndrome: evidence for generalized hyperalgesia. Clin Rheumatol.fckLR2014 Feb 4</ref><sub></sub>
== Associated Co-morbidities  ==


Many different medical conditions/disease states occur in individuals with EDS.&nbsp; Examples of co-morbidities include:<ref name="Gene Hyper" /><ref name="eMed" /><ref name="Woinarosky et al">Woinarosky N et al. The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2017;175(1):158-167.</ref>  
Ehlers-Danlos Syndrome contains at least six discernible phenotypes that are individually recognised.&nbsp; Each type contain characteristics similar to the others.&nbsp;Each specific&nbsp;type&nbsp;presents with the same general&nbsp;clinical characteristics that are&nbsp;a result of faulty or reduced amounts of&nbsp;Type III collagen in the body:<ref name="eMed" /><ref>De Paepe A, Malfait F. [https://onlinelibrary.wiley.com/doi/full/10.1111/j.1399-0004.2012.01858.x?casa_token=6s9BajNjEpUAAAAA%3A0VlhhYqjW9FZ2Te1cw_OeHT3f_tf8vpoFyTkrare2n94QIjBX7kPN9fFMg2i4rdJRVTIVtm4uXbx4w The Ehlers–Danlos syndrome, a disorder with many faces.] Clinical genetics. 2012 Jul;82(1):1-1.</ref><ref name="Gene Classic" /><ref name="Gene Hyper" /><ref name="Gene Kypho" /><ref name="Gene Vascular" /><ref name="Voermans et al">Voermans N, Knoop H, van de Kamp N, Hamel B, Bleijenberg G, van Engelen B. Fatigue Is a Frequent and Clinically Relevant Problem in Ehlers-Danlos Syndrome. 2010;30(3):267-274</ref>  
 
* '''Cutaneous manifestations''' are the hallmark of Ehlers-Danlos syndrome: include hyperextensibility, smooth and velvet-like texture, fragility, delayed wound healing, and thin atrophic scars after wound healing.
*Gastroesophageal reflux
* '''Common musculoskeletal''' manifestations:
*Gastritis
** Subluxation
*[[Irritable Bowel Syndrome|Irritable Bowel Sydrome]]  
** Dislocations
*Autonomic Dysfunction (neurally mediated hypotension, postural orthostatic tachycardia syndrome, paroxysmal supraventricular tachycardia)  
** [[Osteoarthritis in Young People|Early osteoarthritis]]
*Aortic root dilatation
** [[Chronic Pain and the Brain|Persistent pain]]<ref name="Rombaut">Rombaut L, Scheper M, De Wandele I, De Vries J, Meeus M, Malfait F, Engelbert R, Calders P. [https://pubmed.ncbi.nlm.nih.gov/24487572/ Chronic pain in patients with the hypermobility type of Ehlers–Danlos syndrome: evidence for generalized hyperalgesia.] Clinical rheumatology. 2015 Jun;34(6):1121-9.</ref>
*Mitral valve prolapse
** Recurrent fractures
*Periodontal disease (friability, gum disease, gum recession)
** Hypermobility may manifest as early as peripartum with [[Hip Dislocation|hip dislocation]]<nowiki/>s in the newly delivered inf<nowiki/>ant.
*[[TMJ Anatomy|Temporomandibular Joint dysfunction]]  
* '''Other tissues''' are subject to f<nowiki/>riability due t<nowiki/>o the underlying <nowiki/>collagen dysfunction:
*[[Depression|Depression]]  
**<nowiki/> Hollow and solid int<nowiki/>ernal organ spontaneous<nowiki/> rupture
*Developmental coordination disorder (in children)
** Traumatic rupture or perforation
** [[Hernia]]
** rectal prolapse


* '''Neurological''' manife<nowiki/>stations include:
** Hypotonia
** [[Developmental Disabilities in Early and Middle Childhood|Developmental delay]]
** [https://www.physiospot.com/research/chronic-pain-in-patients-with-the-hypermobility-type-of-ehlers-danlos-syndrome/ Generalized pain]<ref name="Rombaut" />
** Insomni<nowiki/>a
** Chronic fatigue
* '''Cardiovascular''' manifestations<nowiki/> include:
** Mitral valve prolapse
** Less commonly, tricuspid valve prolapse.
**[[Aortic Aneurysm|Aortic root dilation]] - can lead to rupture without or without trauma.
** Intracranial arteries, may be aneurysmal, predisposing them to rupture.
** Capillary fragility may manifest as easy bruising and bleeding without underlying bleeding diathesis<ref name=":0" />
<sub></sub>
== Diagnostic Criteria  ==
== Diagnostic Criteria  ==


Clinical Examination and a detailed family history have proven to be the most effective means of accurately diagnosing EDS.&nbsp;&nbsp;  
Clinical examination and a detailed family history have proven to be the most effective means of accurately diagnosing EDS.&nbsp;&nbsp;  


Major&nbsp;diagnostic criteria&nbsp;typically includes:<ref name="eMed" /><ref name="Gene Hyper" /><ref name="Woinarosky et al" />  
Major&nbsp;diagnostic criteria&nbsp;typically includes:<ref name="eMed" /><ref name="Gene Hyper" /><ref name="Woinarosky et al">Engelbert RH, Juul‐Kristensen B, Pacey V, De Wandele I, Smeenk S, Woinarosky N, Sabo S, Scheper MC, Russek L, Simmonds JV. [https://pubmed.ncbi.nlm.nih.gov/28306230/ The evidence‐based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome.] InAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics 2017 Mar (Vol. 175, No. 1, pp. 158-167).</ref>  


*Joint hypermobility as indicated by a score of greater than or equal to 6/9 on the Beighton scale (Gold standard)  
*Joint hypermobility as indicated by a score of greater than or equal to 6/9 on the [[Beighton score|Beighton]] scale (Gold standard)  
*Soft skin or skin hyperextensibility as defined by &gt;1.5 cm on volar surface of forearm  
*Soft skin or skin hyperextensibility as defined by &gt;1.5 cm on volar surface of forearm  
*Fragile skin or significant skin/soft tissue abnormalities (easy bruising, delayed wound healing, atrophic scarring, easy tendon, ligament, vessel rupture)
*Fragile skin or significant skin/soft tissue abnormalities (easy bruising, delayed wound healing, atrophic scarring, easy tendon, ligament, vessel rupture)


Minor&nbsp;diagnostic criteria typically includes:<ref name="eMed" /><ref name="Gene Hyper" />
*Positive family history
*Recurring joint subluxations/dislocations
*Chronic&nbsp;joint, limb, or back pain
*Altered blood pressure responses (neurally mediated hypotension or postural orthostatic tachycardia)
*Functional bowel disorders
*High, narrow palate
*Dental crowding&nbsp;
== Laboratory Tests/Laboratory Values  ==
Laboratory studies can be utilized as supporting evidence to confirm the diagnosis of a specific subtype of EDS.&nbsp; <br>
Biochemical Studies can be used to analyze the make-up of collagen molecules in cultured skin fibroblasts and detect alterations to support a diagnosis of EDS:<ref name="eMed" /><ref name="Gene Hyper" />
*Type IV EDS - Vascular
*Type VIIA and VIIB EDS- Arthrochalasia
*Type VIIC - Dermatosparaxis<br>
Molecular testing utilizing DNA analysis can be used in diagnosis of EDS:<ref name="eMed" /><ref name="Gene Hyper" />
*Type IV - Vascular
*Type VII - Arthrochalasia/Dermatosparaxis<br>
Urinary Analyte Assay can be used in diagnosis of EDS:<ref name="eMed" /><ref name="Gene Hyper" />
*Type VI - Kyphoscoliotic
== Diagnostic Tests  ==
CT scanning, MRI scanning, ultrasonography, electrocardiograms, and angiography are useful in diagnosing Type IV (Vascular) EDS with reports suggesting the presence of arterial aneurysms, arterial dissections, arterial ectasias, and arterial occlusions.<ref name="eMed" /><ref name="Gene Hyper" /><br>
Ultrastructural examination of collagen fibrils has been utilized as an assistive tool for diagnosis of Type I/II (Classical) EDS and Type&nbsp;VIIA/Type VIIB&nbsp;(&nbsp;Arthrochalasia) EDS.<ref name="eMed" /><ref name="Gene Hyper" /><br>
Skin Biopsy using histopathologic analysis has yet to&nbsp;be proven as beneficial in the diagnostic process of EDS.<ref name="eMed" /><ref name="Gene Hyper" />
== Causes  ==


EDS is classified as an inherited connective tissue disease.&nbsp;These patients’ tissues have greater amount of procollagen than normal and have a defect in the conversion of procollagen to collagen.<ref name="Byers and Murray">P.H. Byers, M.L. Murray. Heritable collagen disorders: the paradigm of the Ehlers-Danlos syndrome. J Invest Dermatol, 2012;132(3): E6–E11</ref> Three patterns of inheritance have been linked with the various subtypes of EDS: autosomal dominant, autosomal recessive, and X-linked (rarest form).&nbsp;&nbsp;The exact source of genetic mutation responsible for the condition is unknown.&nbsp; However, mutations in&nbsp;ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, and TNXB genes have been linked to causation of EDS.<ref name="eMed" /><ref name="Gene Hyper" />&nbsp;<br>


*COL1A1, COL1A2, COL3A1, COL5A1, COL5A2 encode the manufacture of proteins that&nbsp;are responsible for&nbsp;multiple types of collagen
For a detailed overview of the diagnostic criteria for specific types of Ehlers Danlos Syndrome,  
*ADAMTS2, PLOD1, and TNXB encode&nbsp;the manufacture of&nbsp;proteins that interact with or process collagen<br>


Patients who have the vascular type EDS also lack type III collagen. Type III collagen is fibrillation forming collagen of 3 alpha-1 chains and is the most abundant type of collagen in the human body. In adults, it makes up the majority of the extracellular matrix in internal organs, especially the cardiovascular system and skin, resulting in arterial and vein complications. Sudden death has been reported in some cases.<ref name="Liu et al">Liu X, Wu H, Byrne M, Krane S, Jaenisch R. Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development. Proceedings of the National Academy of Sciences.1997;94(5):1852-1856.</ref>  
The definite diagnosis of all Ehlers Danlos Syndrome subtypes, except for except for the hypermobile type, relies on the identification of causative genetic variants<ref name=":1">Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M. [https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.31552 The 2017 international classification of the Ehlers–Danlos syndromes]. InAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics 2017 Mar (Vol. 175, No. 1, pp. 8-26).</ref>. A clinical criteria for hypermobile Ehlers Danlos Syndrome has been developed, in order to allow for a better distinction from other joint hypermobility disorders (see reference<ref name=":1" />).


== Systemic Involvement<ref name="eMed" /><ref name="Gene Hyper" /><ref name="Castori et al">Castori M, Morlino S, Celletti C, Celli M, Morrone A, Colombi M, Camerota F, Grammatico P. Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers–Danlos syndrome, hypermobility type): Principles and proposal for a multidisciplinary approach. Am J Med Genet Part A, 2012;158A(8):2055–2070.</ref><ref name="Woinarosky et al" />  ==
== Systemic Involvement ==
The prognosis depends on the type of EDS and the individual. Life expectancy can be shortened for those with the Vascular Ehlers-Danlos syndrome due to the possibility of organ and vessel rupture. Life expectancy is usually not affected in the other types.<ref>EDS society [https://www.ehlers-danlos.com/what-is-eds/ WHAT ARE THE EHLERS-DANLOS SYNDROMES?] Available from:https://www.ehlers-danlos.com/what-is-eds/ (accessed 22.2.2021)</ref>


<u>Musculoskeletal</u>  
<u>Musculoskeletal</u>  


*Joint laxity manifesting&nbsp;as recurrent joint subluxations/dislocations due to minimal trauma and/or spontaneous onset.&nbsp; Joints involved&nbsp;typically include the vertrebral column, costo-vertebral, costo-sternal articulations,&nbsp;temporomandibular and joints of the extremities.&nbsp;
*Joint laxity manifesting&nbsp;as recurrent joint subluxations/dislocations due to minimal trauma and/or spontaneous onset.&nbsp;  
*Augmented biomechanics which results in less effective muscle contraction.
*Osteoarthritis resulting in early onset of degenerative joint disease.
*Osteoarthritis resulting in early onset of degenerative joint disease. Early onset&nbsp;OA associated with&nbsp;increased mechanical stress placed on joints resulting from&nbsp;extreme ligamentous and articular laxity.
*[[Osteoporosis|Osteoporosis]]&nbsp;due to reduction in general bone density up to 0.9 standard deviations lower than the average, healthy adult
*[[Osteopenia|Osteopenia]] due to reduction in general bone density.&nbsp; Precursor and predisposition to early onset of osteoporosis due to abnormally low bone density.
*[[Scoliosis|Scoliosis]], [[Thoracic Hyperkyphosis|Kyphosis]]  
*[[Osteoporosis|Osteoporosis]]&nbsp;due to reduction in general bone bone density up to 0.9 standard deviations lowering than the average, healthy adult  
*[[Scoliosis|Scoliosis]]  
*[[Thoracic Hyperkyphosis|Kyphosis]]  
*Chronic joint, ligament, tendon, or&nbsp;muscle pain due to myofascial and/or neuropathic source  
*Chronic joint, ligament, tendon, or&nbsp;muscle pain due to myofascial and/or neuropathic source  
*Headaches related to muscle tension in cervical spine and TMJ dysfunction<br>
*Headaches related to muscle tension in cervical spine and TMJ dysfunction
 


<u>Neuromuscular</u>  
<u>Neuromuscular</u>  


*Low muscle tone (hypotonia)&nbsp;  
*Low muscle tone (hypotonia)&nbsp;  
*Generalized muscle weakness-- more likely due to a muscle dysfunction than atrophy and muscle loss
*Generalized muscle weakness  
*Decreased reflexes in the knee extensors and flexors seen in adolescents&nbsp;
*Decreased reflexes in the knee extensors and flexors seen in adolescents&nbsp;


<u></u><u>Neurological</u>  
 
<u>Neurological</u>  


*<u></u>Fatigue, pain and anxiety are often due to exhaustion of the CNS's reserves  
*<u></u>Fatigue, pain and anxiety are often due to exhaustion of the CNS's reserves  
*Migraines often disabling  
*Migraines often disabling, Chronic pain
*Chronic pain results from the tight link of peripheral biomechanic dysfunctions and CNS fatigue. This often leads to fear of movement that is aggravated with activity, ultimately leading to muscular deconditioning.
*Hyperalgesia is commonly seen in children and adults with hypermobility EDS due their central nervous system being highly sensitized
*Hyperalgesia is commonly seen in children and adults with hypermobility EDS due their central nervous system being highly sensitized


<u>Cardiopulmonary</u>  
<u>Cardiopulmonary</u>  


*Dysautonomia or Autonomic Dysfunction resulting in abnormal chest pain, palpitations at rest or with exertion, or abnormal blood pressure responses. Condition can be manifested as premature atrial complexes, paroxysmal supraventricular tachycardia, neurally mediated hypotension (NMH), or postural orthostatic tachycardia syndrome (POTS).&nbsp; Occurs in 33-50% of individuals with EDS, especially hypermobility and classic subtypes
*Dysautonomia or Autonomic Dysfunction resulting in abnormal chest pain, palpitations at rest or with exertion, or abnormal blood pressure responses.
*Aortic Root Dilation resulting in predisposition to arterial fragility or rupture.&nbsp; Typically occurs in a mild form in 25-33% of individuals with hypermobility and classic subtypes of EDS.&nbsp; Appears to be less severe than found in Marfan's Syndrome displaying no increased risk of dissection unless a prominent dilatation is present.&nbsp; Places individual at an increased risk for development of an abdominal aortic aneurysm (AAA).&nbsp;
*Aortic Root Dilation resulting in predisposition to arterial fragility or rupture.&nbsp; Mitral Valve Prolapse with increased risk of developing infective endocarditis  
*Mitral Valve Prolapse with increased risk of developing infective endocarditis
 


<u>Gastrointestinal</u>  
<u>Gastrointestinal</u>  


*Functional Bowel Disorders (gastritis, [[Irritable Bowel Syndrome|irritable bowel syndrome]], gastroesophageal reflux) occur in up to 50% of individuals with EDS  
*Functional Bowel Disorders (gastritis, [[Irritable Bowel Syndrome|irritable bowel syndrome]], gastroesophageal reflux) occur in up to 50% of individuals with EDS
*High prevalence of GI reflux&nbsp;abdominal pain, constipation and diarrhea in adolescents with hypermobility EDS<br>
*High prevalence of GI reflux&nbsp;abdominal pain, constipation and diarrhoea in adolescents with hypermobility EDS


<u>Integumentary</u>  
<u>[[Integumentary System|Integumentary]]</u>  
 
[[Image:Skin extensibility EDS.jpg|thumb|right|200px|Skin Extensibility with EDS]]


*Hyperextensibility of skin  
*Hyperextensibility of skin  
*Fragility of soft tissue resulting in increased likelihood of rupture or tearing of internal organs
*Fragility of soft tissue resulting in increased likelihood of rupture or tearing of internal organs


<u>Genitourinary</u>  
<u>Genitourinary</u>  
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*Premature rupture of fetal membranes during pregnancy  
*Premature rupture of fetal membranes during pregnancy  
*[[Pelvic Organ Prolapse|Pelvic prolapse]]  
*[[Pelvic Organ Prolapse|Pelvic prolapse]]  
*Dyspareunia
 
*Urinary incontinence often seen in adolescents with Type III


<u>Oral/Dental</u>  
<u>Oral/Dental</u>  


*Periodontal disease resulting in friability, gingivitis, and gum recession  
*Periodontal disease resulting in friability, gingivitis, and gum recession, Presence of a high, narrow palate combined with dental crowding  
*Presence of a high, narrow palate combined with dental crowding
 


<u>Hematologic</u>  
<u>[[Hematological Disorders|Hematologic]]</u>  
 
*Easy bruising, Prolonged bleeding times, epistaxis, and menometrorrhagia


*Easy bruising
*Prolonged bleeding times, epistaxis, and menometrorrhagia


<u>Psychiatric</u>  
<u>Psychiatric</u>  


*Depression
*Depression<ref name="eMed" /><ref name="Gene Hyper" /><ref name="Castori et al">Castori M, Morlino S, Celletti C, Celli M, Morrone A, Colombi M, Camerota F, Grammatico P. Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers–Danlos syndrome, hypermobility type): Principles and proposal for a multidisciplinary approach. Am J Med Genet Part A, 2012;158A(8):2055–2070.</ref><ref name="Woinarosky et al" />


== Management  ==
== Management  ==
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*Meticulous skin care  
*Meticulous skin care  
*Meticulous dental care  
*Meticulous dental care  
*Frequent medical check-ups for vascular&nbsp;dysfunction associated with&nbsp;Vascular EDS, bone density (DEXA scans), or&nbsp;orthopaedic&nbsp;dysfunctions&nbsp;associated with&nbsp;increased joint laxity and low muscle tone&nbsp;
*Frequent medical check-ups for vascular&nbsp;dysfunction associated with&nbsp;Vascular EDS, bone density (DEXA scans), or&nbsp;orthopaedic&nbsp;dysfunctions&nbsp;associated with&nbsp;increased joint laxity and low muscle tone&nbsp;  


Occupational Therapy  
Occupational Therapy  
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Surgical and/or other invasive procedures are not necessarily recommended in patients with EDS as a means of primary treatment due to the impaired wound healing,&nbsp;increased likelihood of scarring, and increased likelihood of blood vessel rupture associated with EDS.&nbsp; However, certain subtypes of EDS, most notably the classic and vascular subtypes of EDS possess an increased predisposition to surgical complications compared to the others.  
Surgical and/or other invasive procedures are not necessarily recommended in patients with EDS as a means of primary treatment due to the impaired wound healing,&nbsp;increased likelihood of scarring, and increased likelihood of blood vessel rupture associated with EDS.&nbsp; However, certain subtypes of EDS, most notably the classic and vascular subtypes of EDS possess an increased predisposition to surgical complications compared to the others.  


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| {{#ev:youtube|6iC7s3sMujc|250}} <ref>caringmedical. Prolotherapy for Hypermobility and Ehlers-Danlos. Available from: http://www.youtube.com/watch?v=6iC7s3sMujc [last accessed 27/09/13]</ref>
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<ref name="eMed" /><ref name="Gene Hyper" /><ref name="Bathen et al">Bathen T, Hångmann AB, Hoff M, Andersen LØ, Rand-Hendriksen S. 2013. Multidisciplinary treatment of disability in Ehlers–Danlos syndrome hypermobility type/hypermobility syndrome: A pilot study using a combination of physical and cognitive-behavioral therapy on 12 women. Am J Med Genet Part A. 2013; 161A(12):3005–3011.</ref>
<ref name="eMed" /><ref name="Gene Hyper" /><ref name="Bathen et al">Bathen T, Hångmann AB, Hoff M, Andersen LØ, Rand-Hendriksen S. 2013. Multidisciplinary treatment of disability in Ehlers–Danlos syndrome hypermobility type/hypermobility syndrome: A pilot study using a combination of physical and cognitive-behavioral therapy on 12 women. Am J Med Genet Part A. 2013; 161A(12):3005–3011.</ref>


== Physical Therapy Management  ==
== Physical Therapy Management  ==
[[File:Gym equipment.png|right|frameless]]
Physiotherapists play an important role in management through exercise prescription and patient education for many of these conditions.<ref name="Englebert 2017">Engelbert RH, Juul‐Kristensen B, Pacey V, De Wandele I, Smeenk S, Woinarosky N, Sabo S, Scheper MC, Russek L, Simmonds JV. [https://pubmed.ncbi.nlm.nih.gov/28306230/ The evidence‐based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome.] InAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics 2017 Mar (Vol. 175, No. 1, pp. 158-167).</ref>.Each physical therapy plan of care must be specially created for the patient depending upon the subtype of EDS and the signs and symptoms of that patient. <br><br>In general, physical therapy intervention focuses on decreasing the patient’s disability from a multidirectional approach:
*'''Aerobic exercise program:''' consisting of [[Aerobic Exercise|aerobic]]&nbsp;conditioning combined with a low resistance, high repetition resistive training program to promote increased joint stability by increasing general resting muscle tone
*'''Strength exercise program:''' to avoid recurrent joint subluxations/dislocations due to increased muscle tone and to counteract presence of excessive joint, ligament, tendon, and muscle laxity
*'''Assistive devices:''' to provide loading relief to lower extremity joints during ambulation and weight bearing activities
*'''Bracing:''' to promote increased joint stability and decrease likelihood of joint subluxation/dislocation
*'''Pain management techniques:''' to address soft tissue, myofascial, and chronic joint pain associated with EDS
**[[Myofascial Release|Myofascial]] release techniques<ref name="PT journal 1">Russek LN. Examination and Treatment of a Patient with Hypermobility Syndrome. Physical Therapy 2000;80(4):386-398.</ref>
**Pain relief (immediate - several hours)&nbsp;<ref name="null">Russek LN. Hypermobility Syndrome. Physical Therapy 1999;79(6):591-599.</ref><ref name="eMed" /><ref name="Gene Hyper" /><ref name="Castori et al" /><ref name="Yeowell HN, Steinmann B">Yeowell HN, Steinmann B. Ehlers-Danlos syndrome, kyphoscoliotic form. NCBI, 2013. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1462/?report=printable</ref><ref name="Englebert 2017" /><ref name="Ferrell et al">Ferrell W, Tennant N, Sturrock R, Ashton L, Creed G, Brydson G et al. Amelioration of symptoms by enhancement of proprioception in patients with joint hypermobility syndrome. Arthritis &amp; Rheumatism. 2004;50(10):3323-3328.</ref>&nbsp;
== Outcome Measures ==
There is currently not adequate research for specific EDS [[Outcome Measures|outcome]]<nowiki/>s.


PT's "play an important role in management through exercise prescription and patient education for many of these conditions.<ref name="Englebert 2017">Engelbert RH, Juul-Kristensen B, Pacey V, de Wandele I, Smeenk S, Woinarosky N, Sabo S, Scheper MC, Russek L, Simmonds JV. 2017. The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome. Am J Med Genet Part C Semin Med Genet 175C:158–167.</ref>.Each physical therapy plan of care must be specially created for the patient depending upon the subtype of EDS and the signs and symptoms of that patient. <br><br>In general, physical therapy intervention focuses on decreasing the patient’s disability from a multidirectional approach.
These are some of the suggested assessment tools used to measure progress of impairments in this population. It is possible many different measurements could be used that focus on [[balance]], [[gait]] speed, cadence, dual-task activities, [[Quality of Life|quality of life]], and [[Fear of Falling|fear of falling]].
*Exercise program consisting of aerobic&nbsp;conditioning combined with a low resistance, high repetition resistive training program to promote increased joint stability by increasing general resting muscle tone
*[[Falls Efficacy Scale - International (FES-I)|Falls Efficacy Scale]]
*Assistive devices to provide loading relief to lower extremity joints during ambulation and weight bearing activities
*Modified Clinical Test of Sensory Interaction in Balance (mCTSIB)
*Bracing to promote increased joint stability and decrease likelihood of joint subluxation/dislocation
*[[Functional Gait Assessment]] (FGA) / [[Dynamic Gait Index]] (DDI)
*Pain management techniques to address soft tissue, myofascial, and chronic joint pain associated with EDS
*Safe, effective, efficient transfers to avoid excessive weight bearing or loading of lower extremity joints.
More detailed description of interventions below:<u></u>Resistance training<u>:</u> to avoid recurrent joint subluxations/dislocations due to increased muscle tone and to counteract presence of excessive joint, ligament, tendon, and muscle laxity
 
*Low resistance,&nbsp;high repetition activities&nbsp;
*Goal is to improve static and dynamic muscle tone to promote increased joint stability during weightbearing and functional activities
*Incorporate core stabilization exercises early rehab and progress throughout&nbsp;
*Prevent excessive loading through weight bearing joints
*Avoid excessive use of involved joints for heavy lifting
*Strengthening the shoulder girdle is important in patients with kyphoscoliosis.
*Past studies have shown that strengthening the knee in the full hypermobile range rather than just the neutral range is more beneficial to improve strength, pain, and impaired function.
 
<u></u>Proprioceptive Exercises
 
*Closed kinetic chain exercises
*Balance
*Plyometric training
 
Aerobic training
 
*Walking
*Bicycling
*Low-impact aerobics and/or water aerobics
*Swimming
*Goal is to promote increased static and dynamic muscle tone to prevent acute joint subluxations/dislocations by minor trauma or stimulus
*May function as pain relief mechanism for individuals experiencing chronic joint and muscle pain associated with EDS
 
Myofascial release techniques&nbsp;
 
*Pain relief (immediate - several hours)&nbsp;
*Allows pain free participation in resistance training&nbsp;or daily activities
*Goal is to reduce the presence of muscle spasms that result in intense pain in muscles and surrounding ligaments, tendon, and joints
 
Modalities
 
*Hot/cold pack
*Massage
*Goal is to provide pain relief to the patient, who may/may not be experiencing chronic muscle and joint pain from frequent joint&nbsp;subluxations/dislocations, myofascial spasms, and trigger points associated with EDS
 
Adaptive Equipment
 
*Wheelchair/scooter
*Walker/Crutches/Cane (should be used with caution and discretion due to increased weight bearing through upper extremities with use)
*Modified eating utensils (prevents excessive strain placed on small joints of hands and fingers)
*Modified writing utensils (prevents excessive strain placed on small joints of hands and fingers)
*Modified sleeping surface (air mattress, viscoelastic foam mattress, pillow mattress)
*Goal is to allow daily functioning&nbsp;and promote increased quality of life by&nbsp;decreasing pain or chance of joint subluxation/dislocation.<ref name="PT journal 1">Russek LN. Examination and Treatment of a Patient with Hypermobility Syndrome. Physical Therapy 2000;80(4):386-398.</ref><ref name="null">Russek LN. Hypermobility Syndrome. Physical Therapy 1999;79(6):591-599.</ref><ref name="eMed" /><ref name="Gene Hyper" /><ref name="Castori et al" /><ref name="Yeowell HN, Steinmann B">Yeowell HN, Steinmann B. Ehlers-Danlos syndrome, kyphoscoliotic form. NCBI, 2013. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1462/?report=printable</ref><ref name="Woinarosky et al" /><ref name="Ferrell et al">Ferrell W, Tennant N, Sturrock R, Ashton L, Creed G, Brydson G et al. Amelioration of symptoms by enhancement of proprioception in patients with joint hypermobility syndrome. Arthritis &amp; Rheumatism. 2004;50(10):3323-3328.</ref>&nbsp;
 
== Outcome Measures ==
There is currently not adequate research for specific EDS outcomes. However, these are some of the suggested assessment tools used to measure progress of impairments in this population. It is possible many different measurements could be used that focus on balance, gait speed, cadence, dual-task activities, quality of life, and fear of falling.
*Activities-specific Behavior Confidence
*[[Falls Efficacy Scale - International (FES-I)|Falls Efficacy Scale]]  
*mCTSIB  
*DGI/FGA
*Multidimensional Fatigue Symptom Inventory
*Multidimensional Fatigue Symptom Inventory
== Differential Diagnosis&nbsp;&nbsp; ==
== Differential Diagnosis  ==


Include, not limited to:
Include, not limited to:
Line 280: Line 197:
* Williams Syndrome
* Williams Syndrome
* Aarskog-Scott Syndrome
* Aarskog-Scott Syndrome
* Fragile X Syndrome<ref name="Gene Hyper" />
* [[Fragile X Tremor-Ataxia Syndrome|Fragile X]] Syndrome<ref name="Gene Hyper" />
* Patients with EDS, especially those with EDS hypermobility type, are often misdiagnosed with conditions such as fibromyalgia, chronic fatigue syndrome, or depression, given the overlap of symptoms and the psychosocial impact they have on the patient<ref name=":0" />
EDS is often associated with other persistent pain conditions such as<ref name=":0" />:
 
* [[fibromyalgia]]
* [[Myalgic Encephalomyelitis or Chronic Fatigue Syndrome|chronic fatigue]] syndrome
* [[Mental Health|Mental health problems]]


== Case Study  ==
== Case Study  ==
Line 289: Line 210:
== Resources  ==
== Resources  ==


Ehlers-Danlos National Foundation: [http://www.ednf.org www.ednf.org]
[http://www.ednf.org/ Ehlers-Danlos National Foundation]
 
Ehlers-Danlos Syndrome Network C.A.R.E.S.:&nbsp;http://www.ehlersdanlosnetwork.org/&nbsp;


<br>
[http://www.ehlersdanlosnetwork.org/ Ehlers-Danlos Syndrome Network C.A.R.E.S]


== References  ==
== References  ==
Line 301: Line 220:
[[Category:Bellarmine_Student_Project]]  
[[Category:Bellarmine_Student_Project]]  
[[Category:Musculoskeletal/Orthopaedics]]
[[Category:Musculoskeletal/Orthopaedics]]
[[Category:Genetic Disorders]]

Latest revision as of 14:49, 30 July 2023

Original Editors - Corey Vogt from Bellarmine University's Pathophysiology of Complex Patient Problems project.

Top Contributors - Corey Vogt, Eliza Clark, Megan Kanter, Admin, Lucinda hampton, Elaine Lonnemann, Kim Jackson, Laura Ritchie, Abbey Wright, Rosie Swift, 127.0.0.1, Blessed Denzel Vhudzijena and Wendy Walker - Your name will be added here if you are a lead editor on this page. 

Introduction[edit | edit source]

aHyper-elastic skin in a person with Ehlers-Danlos syndrome.
aHyper-elastic skin in a person with Ehlers-Danlos syndrome.
These 3 pictures depict some hypermobility traits: the ability to put hands in the "prayer" position behind the back, W sitting (sitting with knees bent and the legs splayed on either side), a "double-jointed" little finger, and the ability to touch the thumb to the wrist of the same hand.
These 3 pictures depict some hypermobility traits: the ability to put hands in the "prayer" position behind the back, W sitting (sitting with knees bent and the legs splayed on either side), a "double-jointed" little finger, and the ability to touch the thumb to the wrist of the same hand.

Ehlers Danlos syndrome (EDS) is a group of hereditary connective tissue disorders which manifests clinically with skin hyper-elasticity, hypermobility of joints, atrophic scarring, and fragility of blood vessels.

It is largely diagnosed clinically, although identification of the gene encoding the collagen or proteins interacting with it is necessary to identify the type of EDS. It is important to identify the type of EDS to guide management and counselling[1][2]

Epidemiology[edit | edit source]

The incidence of Ehlers-Danlos syndrome, including all subtypes in the general population, is best estimated to be between 1 in 2500 and 1 in 5000[1]

  • Hypermobility and classic subtypes are the most common with a prevalence of 1 per 10,000-15,000 and 1 per 20,000-40,000 respectively.  
  • EDS demonstrates equal prevalence amongst males and females of all racial and ethnic backgrounds. [2][3][4][5][6]
  • There are other forms of EDS that are very rare. These include the arthrochalasia, kyphoscoliosis, dermatosparaxis, and vascular types. Currently, only 30 cases of the arthrochalasia and 60 cases of kyphoscoliosis have been reported worldwide.
  • The vascular type is the rarest form, affecting about 1 in 250,000 people worldwide. [7]
  • While there is no cure for the Ehlers-Danlos syndromes, there is treatment for symptoms, and there are preventative measures that are helpful for most.

Pathophysiology[edit | edit source]

The pathophysiology of most Ehlers Danlos syndrome subtypes involves heritable mutations in collagen synthesis and/or processing[8].

  • The inheritance pattern of these mutations is variable, including autosomal dominant and recessive inheritance involving different mutations; there are reports of spontaneous mutations causing identical genotypes and phenotypes.
  • The collagen affected by these mutations is integral to every body system, from the skin to the integrity of the vasculature, and as such, the symptoms of the disease can be variable and widespread.

Characteristics/Clinical Presentation[edit | edit source]

Hyperextension from the PIPJs

Patient presentations vary widely based on the respective underlying subtype.

Ehlers-Danlos Syndrome contains at least six discernible phenotypes that are individually recognised.  Each type contain characteristics similar to the others. Each specific type presents with the same general clinical characteristics that are a result of faulty or reduced amounts of Type III collagen in the body:[2][9][4][3][5][6][10]

  • Cutaneous manifestations are the hallmark of Ehlers-Danlos syndrome: include hyperextensibility, smooth and velvet-like texture, fragility, delayed wound healing, and thin atrophic scars after wound healing.
  • Common musculoskeletal manifestations:
  • Other tissues are subject to friability due to the underlying collagen dysfunction:
    • Hollow and solid internal organ spontaneous rupture
    • Traumatic rupture or perforation
    • Hernia
    • rectal prolapse
  • Neurological manifestations include:
  • Cardiovascular manifestations include:
    • Mitral valve prolapse
    • Less commonly, tricuspid valve prolapse.
    • Aortic root dilation - can lead to rupture without or without trauma.
    • Intracranial arteries, may be aneurysmal, predisposing them to rupture.
    • Capillary fragility may manifest as easy bruising and bleeding without underlying bleeding diathesis[1]

Diagnostic Criteria[edit | edit source]

Clinical examination and a detailed family history have proven to be the most effective means of accurately diagnosing EDS.  

Major diagnostic criteria typically includes:[2][3][12]

  • Joint hypermobility as indicated by a score of greater than or equal to 6/9 on the Beighton scale (Gold standard)
  • Soft skin or skin hyperextensibility as defined by >1.5 cm on volar surface of forearm
  • Fragile skin or significant skin/soft tissue abnormalities (easy bruising, delayed wound healing, atrophic scarring, easy tendon, ligament, vessel rupture)


For a detailed overview of the diagnostic criteria for specific types of Ehlers Danlos Syndrome,

The definite diagnosis of all Ehlers Danlos Syndrome subtypes, except for except for the hypermobile type, relies on the identification of causative genetic variants[13]. A clinical criteria for hypermobile Ehlers Danlos Syndrome has been developed, in order to allow for a better distinction from other joint hypermobility disorders (see reference[13]).

Systemic Involvement[edit | edit source]

The prognosis depends on the type of EDS and the individual. Life expectancy can be shortened for those with the Vascular Ehlers-Danlos syndrome due to the possibility of organ and vessel rupture. Life expectancy is usually not affected in the other types.[14]

Musculoskeletal

  • Joint laxity manifesting as recurrent joint subluxations/dislocations due to minimal trauma and/or spontaneous onset. 
  • Osteoarthritis resulting in early onset of degenerative joint disease.
  • Osteoporosis due to reduction in general bone density up to 0.9 standard deviations lower than the average, healthy adult
  • Scoliosis, Kyphosis
  • Chronic joint, ligament, tendon, or muscle pain due to myofascial and/or neuropathic source
  • Headaches related to muscle tension in cervical spine and TMJ dysfunction


Neuromuscular

  • Low muscle tone (hypotonia) 
  • Generalized muscle weakness
  • Decreased reflexes in the knee extensors and flexors seen in adolescents 


Neurological

  • Fatigue, pain and anxiety are often due to exhaustion of the CNS's reserves
  • Migraines often disabling, Chronic pain
  • Hyperalgesia is commonly seen in children and adults with hypermobility EDS due their central nervous system being highly sensitized


Cardiopulmonary

  • Dysautonomia or Autonomic Dysfunction resulting in abnormal chest pain, palpitations at rest or with exertion, or abnormal blood pressure responses.
  • Aortic Root Dilation resulting in predisposition to arterial fragility or rupture.  Mitral Valve Prolapse with increased risk of developing infective endocarditis


Gastrointestinal

  • Functional Bowel Disorders (gastritis, irritable bowel syndrome, gastroesophageal reflux) occur in up to 50% of individuals with EDS
  • High prevalence of GI reflux abdominal pain, constipation and diarrhoea in adolescents with hypermobility EDS

Integumentary

  • Hyperextensibility of skin
  • Fragility of soft tissue resulting in increased likelihood of rupture or tearing of internal organs


Genitourinary

  • Uterine Fragility
  • Premature rupture of fetal membranes during pregnancy
  • Pelvic prolapse


Oral/Dental

  • Periodontal disease resulting in friability, gingivitis, and gum recession, Presence of a high, narrow palate combined with dental crowding


Hematologic

  • Easy bruising, Prolonged bleeding times, epistaxis, and menometrorrhagia


Psychiatric

Management[edit | edit source]

Any provider caring for a patient with Ehlers-Danlos syndrome should be aware of the multitude of complications of the disease and potential preventative measures. Treatment and management of patients with EDS should use a multidisciplinary approach that focuses on the prevention of disease progression and subsequent complications as there is no cure for the disease. Specialists generally manage specific care within the field of which the patient has concerning pathology. eg.the monitoring of cardiovascular concerns will be by a cardiologist; likewise, musculoskeletal pathology is monitored and treated by an orthopedist; geneticist or family medicine provider acts as the primary provider referring the patient to these specialists[1]
Treatment of EDS typically consists of management of specific signs and symptoms of the condition as well as lifestyle adjustments to prevent injury/complications. These include:

Education

  • Avoidance of high impact activities that place increased stress on pre-morbid lax joints, such as heavy lifting or resistance training
  • Avoidance of activities that require joint hyperextension, such as excessive stretching or repetitive activities
  • Meticulous skin care
  • Meticulous dental care
  • Frequent medical check-ups for vascular dysfunction associated with Vascular EDS, bone density (DEXA scans), or orthopaedic dysfunctions associated with increased joint laxity and low muscle tone 

Occupational Therapy

[16]
  • Bracing/splinting in combination with orthopaedists, rheumatologists, and physical therapists to promote increased joint stability and decrease likelihood of joint subluxation/dislocation, especially in upper extremity joints and vertebral joints

Ophthalmologist

  • Consultation to screen for myopia, retinal tears, and keratoconus common in individuals with EDS

Dentist

  • Consultation to screen for periodontitis and to emphasize importance of meticulous dental care in individuals with EDS

Surgical/Invasive Procedures

Surgical and/or other invasive procedures are not necessarily recommended in patients with EDS as a means of primary treatment due to the impaired wound healing, increased likelihood of scarring, and increased likelihood of blood vessel rupture associated with EDS.  However, certain subtypes of EDS, most notably the classic and vascular subtypes of EDS possess an increased predisposition to surgical complications compared to the others.

[2][3][17]

Physical Therapy Management[edit | edit source]

Gym equipment.png

Physiotherapists play an important role in management through exercise prescription and patient education for many of these conditions.[18].Each physical therapy plan of care must be specially created for the patient depending upon the subtype of EDS and the signs and symptoms of that patient. 

In general, physical therapy intervention focuses on decreasing the patient’s disability from a multidirectional approach:

  • Aerobic exercise program: consisting of aerobic conditioning combined with a low resistance, high repetition resistive training program to promote increased joint stability by increasing general resting muscle tone
  • Strength exercise program: to avoid recurrent joint subluxations/dislocations due to increased muscle tone and to counteract presence of excessive joint, ligament, tendon, and muscle laxity
  • Assistive devices: to provide loading relief to lower extremity joints during ambulation and weight bearing activities
  • Bracing: to promote increased joint stability and decrease likelihood of joint subluxation/dislocation
  • Pain management techniques: to address soft tissue, myofascial, and chronic joint pain associated with EDS

Outcome Measures[edit | edit source]

There is currently not adequate research for specific EDS outcomes.

These are some of the suggested assessment tools used to measure progress of impairments in this population. It is possible many different measurements could be used that focus on balance, gait speed, cadence, dual-task activities, quality of life, and fear of falling.

Differential Diagnosis[edit | edit source]

Include, not limited to:

EDS is often associated with other persistent pain conditions such as[1]:

Case Study[edit | edit source]

Ehlers-Danlos_Syndrome_Case_Study

Resources[edit | edit source]

Ehlers-Danlos National Foundation

Ehlers-Danlos Syndrome Network C.A.R.E.S

References[edit | edit source]

  1. ↑ 1.0 1.1 1.2 1.3 1.4 Miklovic T, Sieg VC. Ehlers danlos syndrome. InStatPearls [Internet] 2021 Jul 10. StatPearls Publishing.
  2. ↑ 2.0 2.1 2.2 2.3 2.4 2.5 2.6 Steiner RD. Ehlers-Danlos Syndrome. http://emedicine.medscape.com/article/943567-overview (Accessed Feb 15, 2010).
  3. ↑ 3.0 3.1 3.2 3.3 3.4 3.5 3.6 Levy HP. Ehlers-Danlos Syndrome, Hypermobility Type. Gene Reviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=eds3 (Accessed Feb 16, 2010).
  4. ↑ 4.0 4.1 Wenstrup R, Paepe AD. Ehlers-Danlos Syndrome, Classic Type. Gene Reviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=eds (Accessed Mar 3, 2010).
  5. ↑ 5.0 5.1 Yeowell HN, Steinman B. Ehlers-Danlos Syndrome, Kyphoscoliotic Form. Gene Reviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=eds6 (Accessed Mar 3, 2010).
  6. ↑ 6.0 6.1 Pepin MG, Myers PH. Ehlers-Danlos Syndrome, Vascular Type. Gene Reviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=eds4 (Accessed Mar 3, 2010).
  7. ↑ Ehlers-Danlos syndrome. Genetics Home Reference. 2017. Accessed March 2017. Available from: https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome#statisticshttps://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome#statistics
  8. ↑ Malfait F, Paepe AD. The ehlers-danlos syndrome. Progress in heritable soft connective tissue diseases. 2014:129-43.
  9. ↑ De Paepe A, Malfait F. The Ehlers–Danlos syndrome, a disorder with many faces. Clinical genetics. 2012 Jul;82(1):1-1.
  10. ↑ Voermans N, Knoop H, van de Kamp N, Hamel B, Bleijenberg G, van Engelen B. Fatigue Is a Frequent and Clinically Relevant Problem in Ehlers-Danlos Syndrome. 2010;30(3):267-274
  11. ↑ 11.0 11.1 Rombaut L, Scheper M, De Wandele I, De Vries J, Meeus M, Malfait F, Engelbert R, Calders P. Chronic pain in patients with the hypermobility type of Ehlers–Danlos syndrome: evidence for generalized hyperalgesia. Clinical rheumatology. 2015 Jun;34(6):1121-9.
  12. ↑ 12.0 12.1 Engelbert RH, Juul‐Kristensen B, Pacey V, De Wandele I, Smeenk S, Woinarosky N, Sabo S, Scheper MC, Russek L, Simmonds JV. The evidence‐based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome. InAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics 2017 Mar (Vol. 175, No. 1, pp. 158-167).
  13. ↑ 13.0 13.1 Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M. The 2017 international classification of the Ehlers–Danlos syndromes. InAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics 2017 Mar (Vol. 175, No. 1, pp. 8-26).
  14. ↑ EDS society WHAT ARE THE EHLERS-DANLOS SYNDROMES? Available from:https://www.ehlers-danlos.com/what-is-eds/ (accessed 22.2.2021)
  15. ↑ 15.0 15.1 Castori M, Morlino S, Celletti C, Celli M, Morrone A, Colombi M, Camerota F, Grammatico P. Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers–Danlos syndrome, hypermobility type): Principles and proposal for a multidisciplinary approach. Am J Med Genet Part A, 2012;158A(8):2055–2070.
  16. ↑ Bennett Bremner. Spiral Thigh Brace for Ehlers Danlos Syndrome. Available from: http://www.youtube.com/watch?v=LWNiI-YyfE0 [last accessed 27/09/13]
  17. ↑ Bathen T, Hångmann AB, Hoff M, Andersen LØ, Rand-Hendriksen S. 2013. Multidisciplinary treatment of disability in Ehlers–Danlos syndrome hypermobility type/hypermobility syndrome: A pilot study using a combination of physical and cognitive-behavioral therapy on 12 women. Am J Med Genet Part A. 2013; 161A(12):3005–3011.
  18. ↑ 18.0 18.1 Engelbert RH, Juul‐Kristensen B, Pacey V, De Wandele I, Smeenk S, Woinarosky N, Sabo S, Scheper MC, Russek L, Simmonds JV. The evidence‐based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome. InAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics 2017 Mar (Vol. 175, No. 1, pp. 158-167).
  19. ↑ Russek LN. Examination and Treatment of a Patient with Hypermobility Syndrome. Physical Therapy 2000;80(4):386-398.
  20. ↑ Russek LN. Hypermobility Syndrome. Physical Therapy 1999;79(6):591-599.
  21. ↑ Yeowell HN, Steinmann B. Ehlers-Danlos syndrome, kyphoscoliotic form. NCBI, 2013. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1462/?report=printable
  22. ↑ Ferrell W, Tennant N, Sturrock R, Ashton L, Creed G, Brydson G et al. Amelioration of symptoms by enhancement of proprioception in patients with joint hypermobility syndrome. Arthritis & Rheumatism. 2004;50(10):3323-3328.
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