■一种相对罕见的止血疾病是凝血因子缺乏,单个因素或多个因素可能不足。所有遗传性凝血因子缺乏都是常染色体隐性遗传,所以他们可以在两种性别中表现出来,但是血友病A和B是X连锁疾病.因此,女性很少受到影响。本文报道了首例女性FVIII和FXI同时缺乏凝血因子的病例。
■一名17岁的女性因长时间的鼻出血而来到办公室,有严重月经出血和频繁发作的鼻出血史。在她的家族史上,一个兄弟抱怨鼻出血发作。出血时间和凝血酶原时间正常,但活化部分凝血活酶时间增加。VonWillebrand病被排除在外,她被诊断出患有血友病A和C。
■在一些罕见的情况下,女性可能患有X连锁疾病,如血友病A和B:携带者母亲和受影响的父亲,偏斜X染色体失活,特纳综合征,抑制抗体(获得性血友病),或者是最活跃的X染色体上的零星突变.另一方面,血友病C是一种常染色体隐性疾病。这种情况的治疗是一个挑战,重组凝血因子是首选治疗方法。
尽管VonWillebrand病是女性最常见的遗传性出血性疾病,可能怀疑其他罕见疾病,如血友病。X连锁血友病应记住作为任何女性出血患者的鉴别诊断。
BACKGROUND: One of the relatively rare hemostatic disorders is coagulation factors\' deficiency, where a single factor or multiple factors can be deficient. All hereditary coagulation factors\' deficiencies are autosomal recessive, so they can manifest in both genders, but Hemophilia A and B are X-linked disorders. Therefore, females can rarely be affected. This paper
reports the first
case of simultaneous coagulation factors\' deficiencies of FVIII and FXI in a female.
METHODS: A 17-year-old female came to the office due to prolonged epistaxis, with a history of severe menstrual bleeding and frequent episodes of epistaxis. In her familial history, a brother complained of epistaxis episodes. Bleeding time and prothrombin time were normal but activated partial thromboplastin time was increased. Von Willebrand disease was excluded, and she was diagnosed with hemophilia A and C.
CONCLUSIONS: Females can be affected with X-linked disorders such as hemophilia A and B in some rare cases: a carrier mother and affected father, skewed X chromosome inactivation, Turner syndrome, inhibiting antibodies (acquired hemophilia), or a sporadic mutation on the most activated X chromosome. On the other hand, Hemophilia C is an autosomal recessive disease. Treatment of such cases is a challenge, and the recombinant coagulation factors are the treat-of-choice.
CONCLUSIONS: Although Von Willebrand disease is the most common hereditary bleeding disorder in females, other rare diseases could be suspected such as Hemophilia. X-linked Hemophilia should be kept in mind as a differential diagnosis in any female patient suffering from hemorrhage.