Experiences in a Family With the Upshaw-Schulman Syndrome Over a 44-Year Period. (April 2014)

• Record Type: Journal Article
• Authors: Bennett, Michael; Chubar, Yevgeni; Gavish, Israel; Aviv, Ariel; Stemer, Galia; Chap-Marshak, Dafna
• Is Part Of: Clinical and applied thrombosis/hemostasis. Volume 20:Number 3(2014:Apr.)
• Page Start: 296
• Page End: 303
• Publication Date: 2014-04
• Subjects: purpura -- thrombotic thrombocytopenic -- splenectomy -- thrombotic thrombocytopenic purpura -- congenital -- Upshaw-Schulman syndrome -- therapy; Hemostasis -- Periodicals; Thrombosis -- Periodicals; 616.13
• DOI: 10.1177/1076029613495309
• Languages: English
• ISSNs: 1076-0296

Abstract

A family with a novel c.717_del frameshift and a c.3655C > T missense mutation of a d isintegrin a nd m etalloproteinase with t hrombo s pondin type I motif, member 13 protein (ADAMTS13) is described. Family members have been under observation for 44 years. Two double heterozygotes have severe early-onset Upshaw-Schulman syndrome and require prophylactic plasma infusions. Analysis reveals that 2 weekly plasma infusions are not sufficient in preventing laboratory evidence of a thrombotic thrombocytopenic purpura (TTP) attack. Both the double heterozygotes also have a heterozygous factor V Leiden G1291A mutation. One underwent splenectomy, which did not reduce the frequency of TTP episodes but resulted in a recurrent pulmonary embolism and has necessitated lifelong anticoagulant therapy. The other has mild chronic renal failure and has had episodes of atrial fibrillation and cerebral infarction. Of the 3 heterozygotes in the family, 1 has had episodes of mild thrombocytopenia.