- Commonest group of disorders in the family of genetically determined heritable disorders of connective tissues. There are 6 types, of which the hypermobility type (III) is the most common.
- Many affected people do not develop symptoms, or they develop only minor symptoms during their lifetime. Most hypermobile people are not aware of the fact and assume that everyone is as flexible as they are.
- Apart from joint hypermobility, skin manifestations provide an important clue and include soft, silky skin texture, semi-transparent dermis, and hyperelasticity. Furthermore, patients commonly demonstrate easy bruising, scarring, and poor wound healing.
- In addition to musculoskeletal and skin manifestations, cardiovascular and GI features, autonomic dysfunction, and features of chronic pain syndrome and marfanoid habitus are often present.
- Diagnosis is clinical. There is no genetic test that can confirm or refute the diagnosis of the hypermobility type. However, collagen gene testing for the classic and vascular types is available.
- Recommendations are based on expert opinion. Therapy is tailored to individual need. Multidisciplinary input may be necessary.
- Many patients live healthy, unaffected lives. The vascular type is associated with a shortened lifespan due to susceptibility to arterial or visceral rupture.
Other related conditions
- Marfan's syndrome
- Chronic fatigue syndrome
- Von Willebrand disease
- Thrombotic thrombocytopenic purpura
- Idiopathic thrombocytopenic purpura
- Porphyria cutanea tarda
- Epidermolysis bullosa
- Vitamin C deficiency
- Overview of pregnancy complications
- Orthostatic hypotension
- Chronic pain syndromes
Last updated: Dec 27, 2012