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Ehler Danlos syndrome is one of the inheritable connective tissues disorders along with: Marfan syndrome, pseudoxantoma elasticum, osteogenese imperfecta, chondrodysplasias, epidermolysis bullosa and Alport syndrome. It comprises a group of ten different subtypes. The main clinical manifestations are skin fragility, abnormal scar formation, excessive bruising, joint laxity and sometimes rupture of viscera and arteries.
Etiology
The basic defect is in the synthesis of collagen type I and III, leading to low tensile strength of skin and artery wall.
Clinical manifestations
Type III, the so called familial hypermobility disease account for the majority of cases observed. Clinical manifestations varies among the ten groups.
Type I (Gravis), type II (mitis), type V (X-linked) and type X have similar clinical manifestations, except for the greater gravity of these in type I. They present with marked joint laxity, hyperextensible skin, easy bruising and "cigarette paper scars" in areas of trauma. Major complication are joint dislocation, skin fragility and osteoarthritis of early onset.
Type III (Familial)- There is marked hypermobility but no scarring alteration.
Type IV (Arterial)- Is the most severe form because of risk of arterial rupture. There is also marked bruising, and increased risk of uterine (in pregnant women) and bowel rupture.
Type VI (ocular)- Similar to type II, V and X with ocular findings as keratocornus (cone shaped cornea), fragility of the eye and marfanoid habitues.
Type VI- Congenital rib dislocations detected usually in newborns.
Type VIII- A combination of marked bruising and manifestations of type II, V and X.
Type IX- Skin laxity and skeletal abnormalities.
Diagnosis
Is based on clinical criteria. Laboratorial tests to detect the specific metabolic pathway involved are expensive and of limited clinical utility.
Differential diagnosis
Major differential diagnosis is Marfan syndrome and some forms of osteogenese imperfecta. Bruising can be initially diagnosed as bleeding diathesis.
Treatment
There is no specific treatment. Management is symptomatic and includes prompt surgical assessment in arterial rupture, delayed removal of sutures, surgical repair of frequent articular luxations. Patients with type IV may achieve some improvement with ascorbic acid. Affected families should have genetic counseling.
Cecilīs Textbook of Medicine
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