先天性出血性疾病108例临床特征分析

目的提高对先天性出血性疾病的诊治水平，减少临床误诊、漏诊。方法分析2008年1月-2013年11月河北联合大学附属医院血液科门诊和住院登记的108例先天性出血性疾病患者的临床特征，包括性别、年龄分布、家族史、疾病谱分布、临床症状以及并发症等情况，进行回顾性分析。结果108例患者中男96例，女12例，男：女=8：1，最小年龄6个月，最大82岁，中位年龄25岁。其中血友病A（凝血因子Ⅷ缺乏）78例，血友病B（凝血因子Ⅸ缺乏）16例，凝血因子Ⅶ缺乏症2例（均为女性），凝血因子Ⅺ缺乏症3例（其中女性2例），凝血因子V缺乏症1例（女性），先天性纤维蛋白原缺乏症3例（其中女性2例），凝血因子Ⅻ缺乏症2例（均为女性），遗传性毛细血管扩张症3例（均为女性）。有阳性家族史者占26．8％。血友病A／B重型患者均自幼反复自发性出血，以关节、肌肉和皮肤黏膜出血为主；中型患者多为损伤后出血，以皮肤黏膜、关节出血为主；轻型患者以皮肤黏膜损伤后出血为主。结论先天性出血性疾病以血友病最为常见，大部分患者无明确家族史。其他先天性出血性疾病男女均可发病。凝血因子缺乏症以关节肌肉出血为主，遗传性毛细血管扩张症以皮肤黏膜出血和慢性失血为主要表现，凝血因子Ⅻ缺乏症均无出血倾向。

CLINICAL FEATURES OF 108 CASES OF CONGENITAL BLEEDING DISORDERS

Objective To improve the levels of diagnosis and treatment for congenital bleeding disorders, and reduce clinical misdiagnosis. Methods The clinical characteristics of 108 cases with congenital bleeding disorders in the department of hematology, Hebei United University Affiliated Hospital from January 2008 to November 2013 were retrospectively analyzed, including gender, age distribution, family history, dis- ease distribution, clinical symptoms and complications. Results 96 cases were male, 12 cases were female, the ratio was 8：1, the minimum age was 6 months, the maximum was 82 years, with a median age of 25 years. There were 78 cases of hemophilia A （factor ~ deficiency）, 16 cases of hemophilia B （factor IX de- ficiency）, 2 cases （all female） of clotting factor ~ deficiency, 3 cases （of Which women 2 cases） of coagu- lation factor X deficiency, one case （female） of coagulation factor V deficiency, 3 cases （of which 2 fe- males） of congenital fibrinogen deficiency, 2 cases （all female） of coagulation factor ~ deficiency, 3 cases （all female） of hereditary telangiectasia. Positive family history accounted for 26.8%. Hemophilia A / B patients had severe recurrent spontaneous bleeding since childhood to joints, muscles, skin and mucous bleeding dominated; moderate or mild patients were with bleeding after injury or surgury. Conclusions He- mophilia is the most common congenital bleeding disorder, the majority of hemophilia patients without a clear family history. Other congenital bleeding disorders are onset in both men and women. Coagulation factor deficiency is mainly to joint and muscle bleeding, chronic mucocutaneous bleeding and blood loss are the main performance in hereditary telangiectasia, no bleeding tendency is found in coagulation factor XII deficiency.