Ehlers-Danlos Syndrome: Difference between revisions
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== Diagnostic Tests/Lab Tests/Lab Values == | == Diagnostic Tests/Lab Tests/Lab Values == | ||
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: | |||
*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 == | == Causes == |
Revision as of 23:59, 17 February 2010
Original Editors - Students 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]
add text here
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]
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]
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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]
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Alternative/Holistic Management (current best evidence)[edit | edit source]
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Differential Diagnosis[edit | edit source]
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Case Reports[edit | edit source]
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Resources
[edit | edit source]
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Recent Related Research (from Pubmed)[edit | edit source]
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References[edit | edit source]
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