Hemophilia A and C in a female: The first case report in literature
| Autor: | Jerair Argilo, Mohamad Shadi Alkarrash, Rawad Alkhoury, Mohammad Nour Shashaa, Hala Sallah, Rayan Badawi |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities aPTT activated partial thromboplastin time Case Report AST aspartate aminotransferase FVII factor VII WBC white blood cell count Bleeding time hemic and lymphatic diseases ALT alanine aminotransferase PT prothrombin time IU international unit Turner syndrome Von Willebrand disease Medicine Hemophilia Skewed X-inactivation Factor XI Prothrombin time Factor VIII medicine.diagnostic_test business.industry FXI factor XI General Medicine FVIII factor VIII medicine.disease Coagulation Coagulation factor deficiencies Familial multiple coagulation factor deficiencies Surgery Female ECG electrocardiogram FMCFDs familial multiple coagulation factor deficiencies Differential diagnosis business ESR Erythrocyte sedimentation rate Partial thromboplastin time |
| Zdroj: | Annals of Medicine and Surgery |
| ISSN: | 2049-0801 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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