Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality

Clinical Features

Arneson et al. (1980) observed mild EDS in 4 of 6 sibs, together with a defect in platelet aggregation in response to collagen. The defect was partially corrected by normal plasma or cryoprecipitate. Plasma of affected sibs failed to support aggregation. The addition of affinity-purified normal human fibronectin restored aggregation. These workers suggested a functionally abnormal fibronectin (135600) inasmuch as FN is an important connective tissue adhesive glycoprotein and is the putative collagen receptor of platelets. Hammerschmidt et al. (1982) reported that during pregnancy in the proposita, the ability of her plasma to support collagen-induced aggregation of normal platelets improved. Hemostasis and wound healing associated with delivery were normal and the infant was apparently normal. This form has striae distensae which are usually absent in other forms of EDS. Petechiae occur because of the platelet defect.