Ehlers-danlos syndrome with platelet dysfunction due to fibronectin abnormality Q79.6

Very rare (so far only described in a few families), autosomal recessive variant of the Ehlers-Danlos syndrome with superficial dysfunction of fibronectin.

Arneson et al (1980) observed mild EDS in 4 out of 6 siblings together with a defect in platelet aggregation in response to collagen. The defect could be partially corrected by normal plasma.

Already in this first study it was assumed that a functionally abnormal fibronectin was present, since fibronectin is an important connective tissue adhesion glycoprotein and is the putative collagen receptor of platelets. Petechiae occur due to the platelet defect.

The autonomy of this EDS variant is now controversial (see classification in EDS)

1. Arneson M A et al (1980) A new form of Ehlers-Danlos syndrome: fibronectin corrects defective platelet function. JAMA 244: 144-147
2. Hammerschmidt DE et al (1982) Maternal Ehlers-Danlos syndrome type X: successful management of pregnancy and parturition.JAMA 248: 2487-2488