12. Ehlers Danlos Syndrome

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7 Terms

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Ehlers Danlos Syndrome

Group of hereditary connective tissue disorders

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Triad of Ehlers Danlos Syndrome

1. Joint hypermobility

2. Skin hyperextensibility

3. Skin fragility

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What type of Ehlers Danlos Syndrome is life-threatening?

Vascular — Risk of arterial / organ rupture

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MC clinical type of Ehlers Danlos Syndrome

Hypermobile

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S/S of hypermobile Ehlers Danlos Syndrome

- Hypermobility w/ joint dislocations

- Skin hyper extensibility w/ soft doughy feel

- Chronic MSK pain & joint instability

- Soft, velvety, hyperexensible skin

- Atrophic cigarette paper scarring

- Easy bruising — Abnormal capillary structure

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Diagnostic approach of Ehlers Danlos Syndrome

- Clinical based on major & minor criteria of specific subtype

- Genetic testing — Confirms diagnosis (except hEDS)

**Refer to specialist

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Management of Ehlers Danlos Syndrome

Multidisciplinary — PCP, genetics, PT/OT, rheum, ortho, pain specialist