Ehlers-Danlos syndrome - Connective tissue disorders

Ehlers-Danlos syndrome

Definition

An inherited group of conditions resulting from a weakness in collagen.

Aetiology/pathophysiology

At least 10 variants of this condition have been described inherited in a variety of fashions (autosomal dominant, autosomal recessive and X-linked recessive). The underlying pathology is an abnormality in skin, joint and blood vessel collagen resulting in tissue weakness. Some of the subtypes have been mapped to mutations in the collagen genes.

Clinical features

There is hyperextensible skin with normal elastic recoil, hypermobile joints, and fragility of blood vessels causing bruising and occasionally aortic dissection and rupture. Hypermobility can lead to early osteoarthritic changes and damage to the joints. Genetic counselling should be offered where appropriate.