Acquired Hemophilia A in a Female: A Case Report

Authors

  • Fahrul Abdul Azis Department of Internal Medicine
  • Tutik Hardjianti Division of Hematology Oncology, Department of Internal Medicine, Faculty of Medicine, Hasanuddin University, Makassar, Indonesia image/svg+xml
  • Andi Fachruddin Benyamin Division of Hematology Oncology, Department of Internal Medicine, Faculty of Medicine, Hasanuddin University, Makassar, Indonesia
  • Sahyuddin Saleh Division of Hematology Oncology, Department of Internal Medicine, Faculty of Medicine, Hasanuddin University, Makassar, Indonesia
  • Rahmawati Minhajat Division of Hematology Oncology, Department of Internal Medicine, Faculty of Medicine, Hasanuddin University, Makassar, Indonesia
  • Dimas Bayu Division of Hematology Oncology, Department of Internal Medicine, Faculty of Medicine, Hasanuddin University, Makassar, Indonesia

DOI:

https://doi.org/10.3889/oamjms.2022.9920

Keywords:

Hemophilia, Coagulation factor deficiencies, Female, Factor VIII

Abstract

INTRODUCTION: Coagulation factor deficit is a very uncommon hemostatic condition in which a single component or numerous factors are lacking. Hereditary coagulation factor defects are autosomal recessive, meaning that they can affect both men and women. However, hemophilia A, caused by lack of clotting factor VIII (FVIII), is an X-linked condition. Acquired hemophilia A (AHA) is a bleeding disorder caused by autoantibodies to FVIII. It should be distinguished from congenital hemophilia, an inherited disorder caused by a mutation in the FVIII gene. Here, we report the first known case in Indonesia, a 24-year-old female diagnosed with AHA.

CASE PRESENTATION: A 24-year-old woman was referred to our facility for prolonged epistaxis. She had no previous history of extended menstrual flow or frequent epistaxis episodes, and there was no history of epistaxis or prolonged bleeding in her family. Bleeding time and prothrombin time were both normal, but time to activate partial thromboplastin was longer. The patient was diagnosed with AHA after von Willebrand disease (VWD) was ruled out.

DISCUSSION: In some rare situations, females can be affected by X-linked illnesses such as hemophilia A and B. This may be due to a carrier mother or affected father, skewed X chromosome inactivation, Turner syndrome, inhibitory antibodies (acquired hemophilia), or a random mutation on the active X chromosome. In such instances, treatment is challenging. The usual treatment of choice is recombinant coagulation factors.

CONCLUSION: Although VWD is the most frequent hereditary bleeding problem in females, other rare disorders such as AHA may be implicated. Clinicians should be aware of this when faced with patients that lack a history of bleeding disorders. Furthermore, AHA should be considered as a differential diagnosis in every female patient suffering from hemorrhage. Therefore, a comprehensive diagnostic approach is needed.

Downloads

Download data is not yet available.

Metrics

Metrics Loading ...

Plum Analytics Artifact Widget Block

References

Shoukat HM, Ghous G, Tarar ZI, Shoukat MM, Ajmal N. Skewed inactivation of X chromosome: A cause of hemophilia manifestation in carrier females. Cureus. 2020;12(10):e11216. https://doi.org/10.7759/cureus.11216. DOI: https://doi.org/10.7759/cureus.11216

Stonebraker JS, Bolton-Maggs PH, Brooker M, Evatt B, Iorio A, Makris M, et al. The world federation of hemophilia annual global survey 1999-2018. Haemophilia. 2020;26:591-600. https://doi.org/10.1111/hae.14012. DOI: https://doi.org/10.1111/hae.14012

World Federation of Hemophilia. Report on the Annual Global Survey 2017. Vol. 6. World Federation of Hemophilia; 2018. p. 3-74. Available from: https://www.wfh.org [Last accessed on 2021 Dec 29].

World Federation of Hemophilia, Report on the Annual Global Survey 2020, World Federation of Hemophilia; 2021. p. 3-17. https://www.wfh.org [Last accessed on 2021 Dec 29].

Siddiqi AA, Ebrahim SH, Soucie JM, Parker CS, Atrash HK. Burden of disease resulting from hemophilia in the US. Am J Prev Med. 2010;38(Suppl 4):S482-8. https://doi.org/10.1016/j.amepre.2009.12.016 PMid:20331947 DOI: https://doi.org/10.1016/j.amepre.2009.12.016

Lu Y, Xin Y, Dai J, Wu X, You G, Ding Q, et al. Spectrum and origin of mutations in sporadic cases of haemophilia A in China. Haemophilia. 2018;24(2):291-8. https://doi.org/10.1111/hae.13402 PMid:29381227 DOI: https://doi.org/10.1111/hae.13402

Miller CH. The clinical genetics of hemophilia B (factor IX deficiency). Appl Clin Genet. 2021;14:445-54. https://doi.org/10.2147/TACG.S288256 PMid:34848993 DOI: https://doi.org/10.2147/TACG.S288256

Sborov DW, Rodgers GM. How I manage patients with acquired haemophilia A. Br J Haematol. 2013;161(2):157-65. https://doi.org/10.1111/bjh.12228 PMid:23373521 DOI: https://doi.org/10.1111/bjh.12228

Giangrande P. Treatment of Hemophilia: Acquired Hemophilia. Montreal, Canada: World Federation of Hemophilia; 2012. p. 1-7.

Franchini M, Gandini G, Di Paolantonio T, Mariani G. Acquired hemophilia A: A concise review. Am J Hematol. 2005;80(1):55-63. https://doi.org/10.1002/ajh.20390 PMid:16138334 DOI: https://doi.org/10.1002/ajh.20390

Knoebl P, Marco P, Baudo F, Collins P, Huth-Kühne A, Nemes L, et al. Demographic and clinical data in acquired hemophilia A: Results from the European acquired haemophilia registry (EACH2). J Thromb Haemost. 2012;10:622-31. https://doi.org/10.1111/j.1538-7836.2012.04654.x DOI: https://doi.org/10.1111/j.1538-7836.2012.04654.x

Sborov DW, Rodgers GM. Acquired hemophilia a: A current review of autoantibody disease. Clin Adv Hematol Oncol. 2012;10:19-27. PMid:22398803

Kessler CM, Knöbl P. Acquired haemophilia: An overview for clinical practice. Eur J Haematol. 2015;95(Suppl 81):36-44. https://doi.org/10.1111/ejh.12689 PMid:26679396 DOI: https://doi.org/10.1111/ejh.12689

Bakta IM. Acquired Hemophilia A: An Overview of Diagnosis and Management. WMJ. 2018;2:44. https://doi.org/10.22225/wmj.2.2.230.44-51 DOI: https://doi.org/10.22225/wmj.2.2.230.44-51

Collins P, Baudo F, Huth-Kühne A, Ingerslev J, Kessler CM, Castellano ME, et al. Consensus recommendations for the diagnosis and treatment of acquired hemophilia A. BMC Res Notes. 2010;3:161. https://doi.org/10.1186/1756-0500-3-161 PMid:20529258 DOI: https://doi.org/10.1186/1756-0500-3-161

James PD, Goodeve AC. von Willebrand disease. Genet Med. 2011;13(5):365-376. https://doi.org/10.1097/GIM.0b013e3182035931 DOI: https://doi.org/10.1097/GIM.0b013e3182035931

Awad NI, Cocchio C. Activated prothrombin complex concentrates for the reversal of anticoagulant-associated coagulopathy. P T. 2013;38:696-701. PMid:24391389

Tiede A, Collins P, Knoebl P, Teitel J, Kessler C, Shima M, et al. Giangrande, International recommendations on the diagnosis and treatment of acquired hemophilia A. Haematologica. 2020;105():1791-1801. https://doi.org/10.3324/haematol.2019.230771 PMid:32381574 DOI: https://doi.org/10.3324/haematol.2019.230771

Huth-Kuhne A, Baudo F, Collins P, Ingerslev J, Kessler CM, Levesque H, et al. International recommendations on the diagnosis and treatment of patients with acquired hemophilia A. Haematologica. 2009;94(4):566-575. https://doi.org/10.3324/haematol.2008.001743 PMid:19336751 DOI: https://doi.org/10.3324/haematol.2008.001743

Downloads

Published

2022-08-11

How to Cite

1.
Azis FA, Hardjianti T, Benyamin AF, Saleh S, Minhajat R, Bayu D. Acquired Hemophilia A in a Female: A Case Report. Open Access Maced J Med Sci [Internet]. 2022 Aug. 11 [cited 2024 Mar. 29];10(C):285-9. Available from: https://oamjms.eu/index.php/mjms/article/view/9920

Issue

Section

Case Report in Internal Medicine

Categories

Most read articles by the same author(s)