Ehlers-Danlos Syndrome
Original Editors - Corey Vogt from Bellarmine University's Pathophysiology of Complex Patient Problems project.
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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]
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Medical Management (current best evidence)[edit | edit source]
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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]
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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]
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Resources
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Recent Related Research (from Pubmed)[edit | edit source]
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References[edit | edit source]
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