SCOTT SYNDROME, CHARACTERIZED BY IMPAIRED TRANSMEMBRANE MIGRATION OF PROCOAGULANT PHOSPHATIDYLSERINE AND HEMORRHAGIC COMPLICATIONS, IS AN INHERITED DISORDER

An as yet single family with a bleeding history is shown to present th e characteristic lack of membrane expression of procoagulant phospholi pids observed in Scott syndrome. Low prothrombin consumption in the se rum of the propositus, a 71-year-old woman, and two of her children wa s the sole abnormal hemostasis parameter. The degree of exposure of pr ocoagulant phospholipids, chiefly phosphatidylserine, was reduced in s timulated platelets, erythrocytes and Epstein-Barr virus-infected B ly mphocytes. The data are compatible with homozygous status of the propo situs and heterozygous status of her children. Scott syndrome appears to be transmitted as an autosomal recessive trait reflecting the delet ion or mutation of a putative outward phosphatidylserine translocase. The detailed knowledge of this transporter could have an impact in mem brane physiology. (C) 1996 by The American Society of Hematology.