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Published on: September 9, 2012
Factor VII deficiency: a rare genetic bleeding disorder in a 7-year-old child: a case report
Hajaj Mohamed Salum1, Joyce Lukumay2, Kandi Muze3
1Department of Paediatrics and Child Health, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania. hmsbahajaj@gmail.com.
Insights
Factor VII deficiency, a rare bleeding disorder, can mimic hemophilia. Early diagnosis and appropriate treatment are crucial for managing this condition.
Area of Science:
- Hematology
- Rare inherited disorders
Background:
- Factor VII deficiency is a rare inherited bleeding disorder.
- It presents with symptoms similar to hemophilia, often leading to misdiagnosis.
Observation:
- A 7-year-old African male experienced recurrent epistaxis and joint swelling.
- He was initially managed for hemophilia despite multiple transfusions.
Findings:
- Abnormal prothrombin and normal activated partial thromboplastin time were noted.
- Factor VII (FVII) activity was less than 1%, confirming FVII deficiency.
- Treatment included fresh frozen plasma, vitamin K, and tranexamic acid.
Implications:
- This case underscores the importance of considering Factor VII deficiency in bleeding disorder evaluations.
- Accurate diagnosis is essential for effective management of rare bleeding disorders.
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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