Ehlers danlos syndrome(eds)

Ehlers Danlos Syndrome(EDS)

1. EHLERS DANLOS SYNDROME

2. Introduction Ehlers– Danlos syndrome (EDS) comprises a group of autosomal dominant disorders associated with hyper-elasticity and fragility of the skin. More than 10 types of EDS have been described. A common feature of all types, is a defect in collagen, including defects in collagen synthesis, secretion, and post-translational modification.

3. Cont … EDS types I through IV, VII, and X are associated with synthesis of an abnormal collagen protein. EDS types VI and IX are associated with defects in collagen processing enzymes (e.g., lysyl oxidase ). EDS type IV (lack of collagen type III) is associated with the most life-threatening complications.

4. Aetiology and Pathogenesis Ehlers- Danlos disease occurs as a result of mutations in one or more of several genes(e.g. COL1A1, COL3A1, TNXB) that control the assembly of collagen and it’s interaction with other ECM proteins. Defects of these genes thus causes weaknesses in the collagen and it’s laying in tissue thus reducing the structural integrity of connective tissue. Lowered integrity of connective tissue including bones, cartilage, dermis and endothelial basement membranes is what causes the symptoms of EDS.

5. Signs and Symptoms Skin hyper-elasticity and fragility Joint hypermobility (‘‘human pretzel ’’) Diaphragmatic hernias (classical EDS) Dehiscence of surgical incisions Spontaneous rupture of the large arteries(vascular EDS), colon, and gravid uterus (EDS type IV) ocular fragility, with rupture of the cornea and retinal detachment ( Kyphoscoliosis ; EDS type VI) Bladder rupture and skeletal abnormalities (EDS type IX )

6. Diagnosis Extremely loose joints, fragile or stretchy skin and a family history of EDS are often enough to make a diagnosis. Genetic tests on a sample of your blood can confirm the diagnosis.

7. Treatment There’s no cure for EDS but treatment can help you manage your symptoms and prevent further complications. Physiotherapy Analgesics Surgery to repair damaged joints