钟淑萍　侯丽君　何志国　徐景勃　曾林涓　王德文

【摘要】 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。

【关键词】 凝血因子Ⅶ缺乏；自发性出血；淀粉样变性

Primary amyloidosis with acquired factor Ⅶ deficiency

ZHONG Shu-ping，HOU Li-jun，HE Zhi-guo，et al.Department of Hematology and Rheumatology,The Fifth Hospital Of Sunsatsan University,Guangdong 519000,China

【Abstract】 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 Ⅶdeficiency 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,gastrointestinal 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 amyloidosis was established by tissue biopsy.Conclusion Primary amyloidosis with acquired factor Ⅶ deficiency is rare desease and hasnt 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.

【Key words】 Acquired factorⅦ deficiency;Bleeding diathesis; Amyloidosis

原发性淀粉样变是少见疾病，临床表现为疲乏、体质量减轻、紫癜、心力衰竭、蛋白尿、肾功能衰竭、胃肠道功能紊乱、神经系统病变和依赖于受累器官的其他病变。出血是淀粉样变的严重表现，临床上时有报道淀粉样变并发凝血因子Ⅹ缺乏,并发凝血因子Ⅶ缺乏则罕见，本院收治1例淀粉样变并发凝血因子Ⅶ缺乏，报告如下。

1 病例资料

1．1 病史 患者男性，59岁，因反复出现关节肿胀、疼痛伴血尿、牙龈出血1年余于2005年5月2日入院。患者2004年初运动后在右侧腹股沟区出现一肿物，质软，为暗紫色，考虑为肌肉内血肿，查PT、APTT延长，给予止血药物治疗，肿物缩小。……