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