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EDS - Cornish
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Ehlers Danlos Syndrome
Caitlyn Cornish
Introduction
- Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues.
- Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.
Molecular Mechanisms
- COL5A1 & COL5A2: classical
- COL1A1: classical & vascular
- TNXB: classical & hypermobile
- COL1A2: cardiac-valvular & anthrochalasia
- COL3A1: vascular
- ADAMTS2: dermatosparaxis
- PLOD1 & FKBP14: kyphoscoliotic
Diagnostic Technology
- Collagen typing (performed on a skin biopsy sample)
- Collagen gene mutation testing
- Echocardiogram
- Lysyl hydroxylase or oxidase activity (to check collagen formation)
Prognosis &
Therapy
Prognosis & Therapy
- There is no cure. Generally have a normal lifespan. Except, vascular types are at risk of rupturing a major blood vessel or organ.
- Treatment involves managing symptoms, often with medicines and physical therapy. It also includes learning how to protect your joints and prevent injuries.
Sources
- https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome/
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