Hemophilia A and C in a female: The first case report in literature. (August 2021)

• Record Type: Journal Article
• Authors: Alkarrash, Mohamad Shadi; Badawi, Rayan; Sallah, Hala; Shashaa, Mohammad Nour; Argilo, Jerair; Alkhoury, Rawad
• Is Part Of: Annals of medicine and surgery. Volume 68(2021)
• Publication Date: 2021-08
• Subjects: Hemophilia -- Coagulation factor deficiencies -- Familial multiple coagulation factor deficiencies -- Female -- Factor VIII -- Factor XI; FVIII factor VIII -- FXI factor XI -- FVII factor VII -- FMCFDs familial multiple coagulation factor deficiencies -- ECG electrocardiogram -- WBC white blood cell count -- ALT alanine aminotransferase -- AST aspartate aminotransferase -- ESR Erythrocyte sedimentation rate -- PT prothrombin time -- aPTT activated partial thromboplastin time -- IU international unit; Surgery -- Periodicals; Medicine -- Periodicals; General Surgery -- Periodicals; Education, Medical -- Periodicals; Periodicals; 617
• DOI: 10.1016/j.amsu.2021.102561
• Languages: English
• ISSNs: 2049-0801

Abstract

Abstract: Introduction: 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. Case presentation: 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. Discussion: 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. Conclusion: 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. Highlights: This study is the first case of both Hemophilia A and C in a female. Females can be affected with X-linked disorders such as hemophilia A in rare cases. Treatment of combined Coagulation factors' deficiencies is a challenge.