Emori Y, Sakugawa M, Niiya K, Kiguchi T, Kojima K, Takenaka K, Shinagawa K, Ishimaru F, Ikeda K, Tanimoto M, Yamasaki R, Ohara N, Harada M
Second Department of Medicine, Okayama University Medical School, Japan.
Blood Coagul Fibrinolysis. 2002 Sep;13(6):555-9. doi: 10.1097/00001721-200209000-00011.
Acquired factor X deficiency has been described in patients with amyloidosis but acquired factor V deficiency is quite rare. We report here a case of life-threatening bleeding and acquired factor V deficiency associated with primary amyloidosis. A 50-year-old man who had no previous hemorrhagic diathesis was referred to our hospital because of recurrent epistaxis, gingival bleeding and hemospermia. The laboratory examination revealed that both the prothrombin time (PT) and the activated partial thromboplastin time (aPTT) were significantly prolonged, and factor V activities were markedly decreased to 14-39% of the normal value. Other coagulation factors such as fibrinogen, prothrombin, factor VII, factor VIII, factor IX and factor X were subnormal and normal. Transaminases were slightly elevated but serological tests of hepatitis B and hepatitis C were negative. Mild hepatosplenomegaly was noted without sign of liver cirrhosis. The PT and aPTT obtained 8 years ago when he received a cholecystectomy due to cholecystitis were both normal. Specific assays for the detection of factor V inhibitor were repeatedly performed but no factor V inhibitor was found. Furthermore, a significant recovery of the infused factor V was noted shortly after an intravenous administration of 5-10 U fresh frozen plasma, but it did not last more than 6 h. Melena, bleedings into the left shoulder and buttock, and finally mortal retroperitoneal hemorrhage developed despite repeated infusions of large amounts of fresh frozen plasma. Acquired factor V deficiency associated with primary amyloidosis was suspected but histological diagnosis was not obtained because of the severe bleeding tendency. Autopsy revealed hepatosplenomegaly and massive deposits of AL amyloid in the liver, spleen, heart and other parenchymal organs. Perivascular amyloid deposition and factor V deficiency are both thought to be the cause of the severe hemorrhagic tendency seen in this patient.
获得性因子X缺乏症在淀粉样变性患者中已有报道，但获得性因子V缺乏症相当罕见。我们在此报告一例与原发性淀粉样变性相关的危及生命的出血和获得性因子V缺乏症病例。一名既往无出血素质的50岁男性因反复鼻出血、牙龈出血和血精症被转诊至我院。实验室检查显示，凝血酶原时间（PT）和活化部分凝血活酶时间（aPTT）均显著延长，因子V活性明显降低至正常值的14% - 39%。其他凝血因子如纤维蛋白原、凝血酶原、因子VII、因子VIII、因子IX和因子X均低于正常或正常。转氨酶轻度升高，但乙肝和丙肝血清学检测均为阴性。发现轻度肝脾肿大，但无肝硬化迹象。8年前他因胆囊炎接受胆囊切除术时测得的PT和aPTT均正常。多次进行检测因子V抑制剂的特异性试验，但未发现因子V抑制剂。此外，静脉输注5 - 10 U新鲜冰冻血浆后不久，输注的因子V有显著恢复，但持续时间不超过6小时。尽管反复输注大量新鲜冰冻血浆，仍出现黑便、左肩和臀部出血，最终发生致命的腹膜后出血。怀疑与原发性淀粉样变性相关的获得性因子V缺乏症，但由于严重的出血倾向未获得组织学诊断。尸检显示肝脾肿大，肝脏、脾脏、心脏和其他实质器官有大量AL淀粉样蛋白沉积。血管周围淀粉样蛋白沉积和因子V缺乏均被认为是该患者出现严重出血倾向的原因。
