Factor VII deficiency: a rare genetic bleeding disorder in a 7-year-old child: a case report.
Bleeding
Case report
Factor VII (FVII) deficiency
Rare
Journal
Journal of medical case reports
ISSN: 1752-1947
Titre abrégé: J Med Case Rep
Pays: England
ID NLM: 101293382
Informations de publication
Date de publication:
14 Apr 2023
14 Apr 2023
Historique:
received:
06
08
2022
accepted:
10
03
2023
medline:
17
4
2023
entrez:
13
4
2023
pubmed:
14
4
2023
Statut:
epublish
Résumé
Factor VII deficiency is a rare inherited bleeding disorder that has similar clinical presentation to hemophilia. 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. 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.
Sections du résumé
BACKGROUND
BACKGROUND
Factor VII deficiency is a rare inherited bleeding disorder that has similar clinical presentation to hemophilia.
CASE REPORT
METHODS
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
CONCLUSIONS
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.
Identifiants
pubmed: 37055867
doi: 10.1186/s13256-023-03884-3
pii: 10.1186/s13256-023-03884-3
pmc: PMC10103398
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
138Informations de copyright
© 2023. The Author(s).
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