原发性淀粉样变并发凝血因子Ⅶ缺乏

目的探讨原发性淀粉样变并发凝血因子Ⅶ缺乏的临床特征、发病机制及治疗方法。方法对1例原发性淀粉样变并发凝血因子Ⅶ缺乏的患者进行病史采集、体格检查和实验室检查，并行组织学活检，结合文献分析其发病机制，探讨治疗方法。结果该患者有自发性肌肉出血、皮肤黏膜出血、上消化道出血，肝脾肿大，凝血酶原时间（PT）、活化部分凝血酶原时间（APTT）延长，凝血因子检查Ⅶ因子活性明显降低，组织活检证实为淀粉样变性。结论淀粉样变并发凝血因子Ⅶ缺乏临床上少见，国内外罕见报道，目前认为原发性淀粉样变性并发凝血因子缺乏的机制是凝血因子与淀粉样变纤维结合，沉积在组织中。本病以化疗为主，远期疗效差。有严重出血或需行手术患者可予输注凝血因子治疗。

Primary amyloidosis with acquired factor Ⅶ deficiency

Objective To investigate the clinical feature,mechanism and therapy of primary amyloidosis with acquired factor Ⅶ deficiency. Methods One case of primary amyloidosis with acquired factor Ⅶ deficiency was reported. History,physical examination and various kinds of laboratory studies for the patient including coagulation study and tissue biopsy had done. The related articles were reviewed. Results Physical examination revealed spontaneous muscular hematoma, bleeding in multiple sites including mucous membranes, gastro- intestinal tract,and hepatosplenomegany. The initial coagulat test showed prolonged PT and APTT. Deficiency of factor Ⅶ was confired by coagulation study. The diagnosis of systemic amyloldosis was established by tissue biopsy. Conclusion Primary amyloidosis with acquired factor Ⅶ deficiency is rare desease and hash＇ t been reported yet. The mechanism of factor deficiency in primary amyloidosis was known as that the factor directly bind to amyloid fibrils and deposit in tissues. The efficient treatment for the disease is chematherapy. The long time pronosis is bad. FFP,PCCs and other blood products should be used in patients with severe bleeding diathesis or as preoperative management.