Ehlers-Danlos Syndrome: Difference between revisions
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<div class="noeditbox">Welcome to [[Pathophysiology of Complex Patient Problems|PT 635 Pathophysiology of Complex Patient Problems]] This is a wiki created by and for the students in the School of Physical Therapy at Bellarmine University in Louisville KY. Please do not edit unless you are involved in this project, but please come back in the near future to check out new information!!</div> <div class="editorbox"> | [[Category:Bellarmine Student Project]]<div class="noeditbox">Welcome to [[Pathophysiology of Complex Patient Problems|PT 635 Pathophysiology of Complex Patient Problems]] This is a wiki created by and for the students in the School of Physical Therapy at Bellarmine University in Louisville KY. Please do not edit unless you are involved in this project, but please come back in the near future to check out new information!!</div> <div class="editorbox"> | ||
'''Original Editors '''- [[Pathophysiology of Complex Patient Problems|Students from Bellarmine University's Pathophysiology of Complex Patient Problems project.]] | '''Original Editors '''- [[Pathophysiology of Complex Patient Problems|Students from Bellarmine University's Pathophysiology of Complex Patient Problems project.]] | ||
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== Definition/Description == | == Definition/Description == | ||
Ehlers-Danlos syndrome is a hereditary collagen disorder characterized by articular hypermobility, dermal hyperelasticity, and widespread tissue fragility (The Merck Manual). | Ehlers-Danlos syndrome is a hereditary collagen disorder characterized by articular hypermobility, dermal hyperelasticity, and widespread tissue fragility (The Merck Manual). | ||
== Prevalence == | == Prevalence == | ||
Combined prevalence of all subtypes of EDS is about 1 per 5,000. Hypermobility and classic subtypes are the most common with prevalencs 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 (Ehlers Danlos National Foundation, Steiner RD - emedicine, Levy HP - Gene Reviews, U.S. National Library of Medicine). | Combined prevalence of all subtypes of EDS is about 1 per 5,000. Hypermobility and classic subtypes are the most common with prevalencs 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 (Ehlers Danlos National Foundation, Steiner RD - emedicine, Levy HP - Gene Reviews, U.S. National Library of Medicine). | ||
== Characteristics/Clinical Presentation == | == Characteristics/Clinical Presentation == | ||
<br> | <br> | ||
<br> | <br> | ||
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{{#ev:youtube|PunQu-bId1M}} | {{#ev:youtube|PunQu-bId1M}} | ||
== Associated Co-morbidities == | == Associated Co-morbidities == | ||
Many different medical conditions/disease states occur in individuals with EDS. Examples of co-morbidities include: | Many different medical conditions/disease states occur in individuals with EDS. Examples of co-morbidities include: | ||
*Gastroesophageal reflux | *Gastroesophageal reflux | ||
*Gastritis | *Gastritis | ||
*Irritable Bowel Sydrome | *Irritable Bowel Sydrome | ||
*Autonomic Dysfunction (neurally mediated hypotension, postural orthostatic tachycardia syndrome, paroxysmal supraventricular tachycardia) | *Autonomic Dysfunction (neurally mediated hypotension, postural orthostatic tachycardia syndrome, paroxysmal supraventricular tachycardia) | ||
*Aortic root dilatation | *Aortic root dilatation | ||
*Mitral valve prolapse | *Mitral valve prolapse | ||
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Muscle relaxants | Muscle relaxants | ||
Glucosamine and Chondroitin | Glucosamine and Chondroitin | ||
== Diagnostic Tests/Lab Tests/Lab Values == | == Diagnostic Tests/Lab Tests/Lab Values == | ||
Clinical Examination and a detailed family history have proven to be the most effective means of accurately diagnosing EDS | Clinical Examination and a detailed family history have proven to be the most effective means of accurately diagnosing EDS | ||
<br> | |||
Laboratory studies can be utilized as supporting evidence to confirm the diagnosis of specific subtypes of EDS. <br> | |||
Laboratory studies can be utilized as supporting evidence to confirm the diagnosis of specific subtypes of EDS. <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: | 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: | ||
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*Type VIIC - Dermatosparaxis | *Type VIIC - Dermatosparaxis | ||
<br> | <br> | ||
Molecular testing utilizing DNA analysis can be used in diagnosis of EDS: | Molecular testing utilizing DNA analysis can be used in diagnosis of EDS: | ||
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*Type VII - Arthrochalasia/Dermatosparaxis | *Type VII - Arthrochalasia/Dermatosparaxis | ||
<br> | <br> | ||
Urinary Analyte Assay can be used in diagnosis of EDS: | Urinary Analyte Assay can be used in diagnosis of EDS: | ||
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*Type VI - Kyphoscoliotic | *Type VI - Kyphoscoliotic | ||
<br> | <br> | ||
CT scanning, MRI scanning, ultrasonography, 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. | CT scanning, MRI scanning, ultrasonography, 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. | ||
<br> | <br> | ||
Ultrastructural examination of collagen fibrils has been utilized as an assistive tool for diagnosis of Type I/II (Classical) EDS and Type VIIA/Type VIIB ( Arthrochalasia) EDS. | Ultrastructural examination of collagen fibrils has been utilized as an assistive tool for diagnosis of Type I/II (Classical) EDS and Type VIIA/Type VIIB ( Arthrochalasia) EDS. | ||
<br> | <br> | ||
Skin Biopsy using histopathologic analysis has yet to be proven as beneficial in the diagnostic process of EDS. | Skin Biopsy using histopathologic analysis has yet to be proven as beneficial in the diagnostic process of EDS. | ||
== Causes == | == Causes == | ||
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EDS is classified as an inherited connective tissue disease. Three patterns of inheritance have been linked with the various subtypes of EDS: autosomal dominant, autosomal recessive, and X-linked, the rarest form. The exact source of genetic mutation responsible for the disease state is unknown. However, mutations in ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, and TNXB genes have been linked to causation of EDS. | EDS is classified as an inherited connective tissue disease. Three patterns of inheritance have been linked with the various subtypes of EDS: autosomal dominant, autosomal recessive, and X-linked, the rarest form. The exact source of genetic mutation responsible for the disease state is unknown. However, mutations in ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, and TNXB genes have been linked to causation of EDS. | ||
COL1A1, COL1A2, COL3A1, COL5A1, COL5A2 encode the manufacture of proteins that are responsible for multiple types of collagen | COL1A1, COL1A2, COL3A1, COL5A1, COL5A2 encode the manufacture of proteins that are responsible for multiple types of collagen | ||
ADAMTS2, PLOD1, and TNXB encode the manufacture of proteins that interact with or process collagen | ADAMTS2, PLOD1, and TNXB encode the manufacture of proteins that interact with or process collagen | ||
| | ||
EDS presents with 100% penetrance, but expression varies greatly amongst the many types | EDS presents with 100% penetrance, but expression varies greatly amongst the many types | ||
== Systemic Involvement == | == Systemic Involvement == | ||
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== Physical Therapy Management (current best evidence) == | == Physical Therapy Management (current best evidence) == | ||
Resistance training | Resistance training | ||
*low resistance | *low resistance | ||
*high repetitions | *high repetitions | ||
Myofascial release | Myofascial release | ||
*pain relief | *pain relief | ||
*muscle spasms | *muscle spasms | ||
Modalties | Modalties | ||
*hot/cold pack | *hot/cold pack | ||
*massage | *massage | ||
*ultrasound | *ultrasound | ||
*electrical stimulation | *electrical stimulation | ||
*acupunture | *acupunture | ||
*acupressure | *acupressure | ||
* | * | ||
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== Differential Diagnosis == | == Differential Diagnosis == | ||
Marfans Syndrome | Marfans Syndrome | ||
Loeys-Dietz Syndrome | Loeys-Dietz Syndrome | ||
Stickler Syndrome | Stickler Syndrome | ||
Williams Syndrome | Williams Syndrome | ||
Aarskog-Scott Syndrome | Aarskog-Scott Syndrome | ||
Fragile X Syndrome | Fragile X Syndrome | ||
Achondroplasia/hypochondroplasia | Achondroplasia/hypochondroplasia | ||
Osteogenesis Imperfecta | Osteogenesis Imperfecta | ||
Aneuploidies | Aneuploidies | ||
*Down Syndrome | *Down Syndrome | ||
*Turner Syndrome | *Turner Syndrome | ||
*Klinefelter Syndrome | *Klinefelter Syndrome | ||
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== Recent Related Research (from [http://www.ncbi.nlm.nih.gov/pubmed/ Pubmed]) == | == Recent Related Research (from [http://www.ncbi.nlm.nih.gov/pubmed/ Pubmed]) == | ||
see tutorial on [[ | see tutorial on [[Adding PubMed Feed|Adding PubMed Feed]] | ||
<div class="researchbox"> | <div class="researchbox"> | ||
<rss>Feed goes here!!|charset=UTF-8|short|max=10</rss> | <rss>Feed goes here!!|charset=UTF-8|short|max=10</rss> | ||
</div> | </div> | ||
== References == | == References == | ||
Revision as of 12:58, 24 February 2010
Original Editors - Students from Bellarmine University's Pathophysiology of Complex Patient Problems project.
Lead Editors - Your name will be added here if you are a lead editor on this page. Read more.
Definition/Description[edit | edit source]
Ehlers-Danlos syndrome is a hereditary collagen disorder characterized by articular hypermobility, dermal hyperelasticity, and widespread tissue fragility (The Merck Manual).
Prevalence[edit | edit source]
Combined prevalence of all subtypes of EDS is about 1 per 5,000. Hypermobility and classic subtypes are the most common with prevalencs 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 (Ehlers Danlos National Foundation, Steiner RD - emedicine, Levy HP - Gene Reviews, U.S. National Library of Medicine).
Characteristics/Clinical Presentation[edit | edit source]
Associated Co-morbidities[edit | edit source]
Many different medical conditions/disease states occur in individuals with EDS. Examples of co-morbidities include:
- Gastroesophageal reflux
- Gastritis
- Irritable Bowel Sydrome
- Autonomic Dysfunction (neurally mediated hypotension, postural orthostatic tachycardia syndrome, paroxysmal supraventricular tachycardia)
- Aortic root dilatation
- Mitral valve prolapse
Medications[edit | edit source]
Analgesics
- Acetaminophen
- Tramadol
- Lidocaine
- Tricyclic antidepressants
- Opioids
NSAIDS (ibuprofen, naproxen, etc)
- Ibuprofen, naproxen, etc
- Cox-2 Inhibitors
Muscle relaxants
Glucosamine and Chondroitin
Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]
Clinical Examination and a detailed family history have proven to be the most effective means of accurately diagnosing EDS
Laboratory studies can be utilized as supporting evidence to confirm the diagnosis of specific subtypes of EDS.
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:
- Type IV EDS - Vascular
- Type VIIA and VIIB EDS- Arthrochalasia
- Type VIIC - Dermatosparaxis
Molecular testing utilizing DNA analysis can be used in diagnosis of EDS:
- Type IV - Vascular
- Type VII - Arthrochalasia/Dermatosparaxis
Urinary Analyte Assay can be used in diagnosis of EDS:
- Type VI - Kyphoscoliotic
CT scanning, MRI scanning, ultrasonography, 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.
Ultrastructural examination of collagen fibrils has been utilized as an assistive tool for diagnosis of Type I/II (Classical) EDS and Type VIIA/Type VIIB ( Arthrochalasia) EDS.
Skin Biopsy using histopathologic analysis has yet to be proven as beneficial in the diagnostic process of EDS.
Causes[edit | edit source]
EDS is classified as an inherited connective tissue disease. Three patterns of inheritance have been linked with the various subtypes of EDS: autosomal dominant, autosomal recessive, and X-linked, the rarest form. The exact source of genetic mutation responsible for the disease state is unknown. However, mutations in ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, and TNXB genes have been linked to causation of EDS.
COL1A1, COL1A2, COL3A1, COL5A1, COL5A2 encode the manufacture of proteins that are responsible for multiple types of collagen
ADAMTS2, PLOD1, and TNXB encode the manufacture of proteins that interact with or process collagen
EDS presents with 100% penetrance, but expression varies greatly amongst the many types
Systemic Involvement[edit | edit source]
add text here
Medical Management (current best evidence)[edit | edit source]
add text here
Physical Therapy Management (current best evidence)[edit | edit source]
Resistance training
- low resistance
- high repetitions
Myofascial release
- pain relief
- muscle spasms
Modalties
- hot/cold pack
- massage
- ultrasound
- electrical stimulation
- acupunture
- acupressure
Alternative/Holistic Management (current best evidence)[edit | edit source]
add text here
Differential Diagnosis[edit | edit source]
Marfans Syndrome
Loeys-Dietz Syndrome
Stickler Syndrome
Williams Syndrome
Aarskog-Scott Syndrome
Fragile X Syndrome
Achondroplasia/hypochondroplasia
Osteogenesis Imperfecta
Aneuploidies
- Down Syndrome
- Turner Syndrome
- Klinefelter Syndrome
Case Reports[edit | edit source]
add links to case studies here (case studies should be added on new pages using the case study template)
Resources
[edit | edit source]
add appropriate resources here
Recent Related Research (from Pubmed)[edit | edit source]
see tutorial on Adding PubMed Feed
Extension:RSS -- Error: Not a valid URL: Feed goes here!!|charset=UTF-8|short|max=10
References[edit | edit source]
see adding references tutorial.
