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- Title
Experiences in a Family With the Upshaw-Schulman Syndrome Over a 44-Year Period.
- Authors
Bennett, Michael; Chubar, Yevgeni; Gavish, Israel; Aviv, Ariel; Stemer, Galia; Chap-Marshak, Dafna
- Abstract
A family with a novel c.717_del frameshift and a c.3655C > T missense mutation of adisintegrin and metalloproteinase with thrombospondin 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.
- Publication
Clinical & Applied Thrombosis/Hemostasis, 2014, Vol 20, Issue 3, p296
- ISSN
1076-0296
- Publication type
Article
- DOI
10.1177/1076029613495309