以出血为首发症状的原发性系统性淀粉样变并发凝血因子X缺乏2例报告并文献复习

Primary systemic amyloidosis with acquired factor-X deficiency (2 cases report and literature review)

目的:探讨原发性系统性淀粉样变性并发凝血因子X缺乏的临床特征、发病机制及治疗方法。方法:对2例出血素质的患者进行了病史采集、体格检查、物理检查、凝血因子检查和组织活检,并结合文献就其发病机制和治疗方法进行讨论。结果:发现2例患者都有自发性肌肉血肿,心脏、肝脏、肾脏增大,血沉快,尿蛋白阳性,凝血酶原时间(PT)、活化部分凝血激酶时间(APTT)延长等特点。凝血因子检查X因子活性均明显降低,组织活检均证实为淀粉样变性。结论:目前认为原发性系统性淀粉样变性并发凝血因子X缺乏的机制是淀粉样纤维与X因子特异性结合沉积在组织中形成的。本病无特殊有效治疗,预后差。

Objective:To investigate the clinical feature, pathogenesis, and therapy of Primary systemic amyloidosis with acquired factor-X deficiency.Method:Two cases of acquired severe bleeding diathesis were reported. Various kinds of clinical examination for the patients including coagulation study and tissue biopsy had done. The related articles were reviewed.Result:Physical Examination revealed spontaneous muscular hematoma, hepatomegaly, cardiomegaly and nephromegaly both in two patients. They also had increased erythrocyte sedimentation rate (ESR) and proteinuria. The initial coagulant test showed prolonged prothrombin time (PT) and activated partial thromboplastin time (APTT). Deficiency of factor-X was confirmed by coagulation studied. Finally, the diagnosis of primary systemic amyloidosis was established by tissue biopsy.Conclusion:The mechanism of factor-X deficiency with primary amyloidosis was known as that the factor-X directly bind to amyloid fibrils and deposit in tissue. There is no efficient therapy for this disease and the patient had poor prognosis.