EHLERS-DANLOS-SYNDROME AND TYPE-III COLLAGEN ABNORMALITIES - A VARIABLE CLINICAL SPECTRUM

Ehlers-Danlos syndrome (EDS) comprises ten types. EDS IV is the most s evere type because of its often lethal complications, such as arterial rupture. EDS IV is caused by an abnormality of collagen type III as a result of mutations in the corresponding gene COL3A1. A collagen type III abnormality is also seen in patients with EDS without the classic al severe EDS IV phenotype. We report on Ii patients with type III col lagen abnormality and normal collagen V in whom clinically EDS II, III , and IV were diagnosed. There is no correlation between the type of c ollagen III anomaly and the clinical phenotype. It is concluded that t ype III collagen abnormality may lead to a phenotypic spectrum and tha t it does not predict the severity and course of the disease.