1Department of Haematology, The Emek Medical Centre, Afula, Israel.
Clin Appl Thromb Hemost. 2014 Apr;20(3):296-303. doi: 10.1177/1076029613495309. Epub 2013 Jul 19.
A family with a novel c.717_del frameshift and a c.3655C > T missense mutation of a disintegrin 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.
一个家族携带 novel c.717_del frameshift 及 disintegrin and metalloproteinase with thrombospondin type I motif, member 13 protein (ADAMTS13) 的 c.3655C > T missense 突变。该家族已被观察了 44 年。两名双重杂合子具有严重的早发性 Upshaw-Schulman 综合征，需要预防性血浆输注。分析表明，每周两次的血浆输注不足以预防实验室证据表明的血栓性血小板减少性紫癜（TTP）发作。这两名双重杂合子也存在杂合子因子 V Leiden G1291A 突变。其中一人接受了脾切除术，但并未降低 TTP 发作的频率，反而导致复发性肺栓塞，需要终身抗凝治疗。另一名患者患有轻度慢性肾衰竭，曾发生心房颤动和脑梗死。在家族的 3 名杂合子中，有 1 名发生过轻度血小板减少症。
