Congenital Severe Factor V Deficiency: Two Cases with Different Clinical Presentations

Eker N, Tokus AG, Yılmaz B, Dogru O, Senay E, Tufan B, Aras S, Kos A
2020 Scholars Journal of Medical Case Reports  
Case Report Background: Congenital faktor V (FV) deficiency is a rare bleeding disorder in children. The incidence is approximately 1/1.000.000 in the general population. We aimed to present two patients with congenital FV deficiency who have different clinical presentation and one of them with malignancy. Case report: Case 1 was asymptomatic while Case 2 had intracranial hemorrhage at the time of initial diagnose. Their genetic mutations were different and Case 1 who had a malignancy has
more » ... alignancy has heterozygous mutation c.6304 C>A (p.Arg2102Ser) on 23.exon of F5 which didn't report for FV deficiency before. Conclusion: To the best of our knowledge, there is no report in the literature about the relationship at congenital FV deficiency with malignant diseases. There may be a relationship at this new mutation with malignancy or she might have two diseases coincidentally. In conclusion, we suggest that genotype may play a significant role for severe FV deficiency patients' different clinical presentations.
doi:10.36347/sjmcr.2020.v08i03.046 fatcat:xa4mmscpjrdd7erme65h3wldam