Journal of Medical Case Reports (Apr 2023)

Factor VII deficiency: a rare genetic bleeding disorder in a 7-year-old child: a case report

  • Hajaj Mohamed Salum,
  • Joyce Lukumay,
  • Kandi Muze,
  • Peter Swai,
  • Christina Kindole,
  • Honesta Kipasika,
  • Monica Apollo,
  • Lulu Chirande,
  • Francis Furia

DOI
https://doi.org/10.1186/s13256-023-03884-3
Journal volume & issue
Vol. 17, no. 1
pp. 1 – 4

Abstract

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Abstract Background Factor VII deficiency is a rare inherited bleeding disorder that has similar clinical presentation to hemophilia. Case report A 7-year-old male child of African origin experienced recurrent nasal bleeding since 3 years of age and recurrent swelling of the joints that was remarkable at the age of 5–6 years. He received multiple blood transfusions and has been managed as a patient with hemophilia until he presented to our facility. Reviewed evaluation of the patient revealed abnormal prothrombin and normal activated partial thromboplastin time, FVII analysis showed activity level of less than 1%, and the diagnosis of FVII deficiency was made. The patient was treated with fresh frozen plasma, vitamin K injection, and tranexamic tablets. Conclusion Even though factor VII deficiency is an extremely rare bleeding disorder, it does occur in our setting. This case highlights the need for clinicians to consider this condition when faced with challenging patients presenting with bleeding disorders.

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