Retrospective analysis of patients diagnosed with factor VII deficiency in the paediatric haematology clinic

Background: Factor VII (FVII) deficiency is the most common inherited rare bleeding disorder. The absence of correlation between clinical severity and the level of factor deficiency is notable. In our study, we investigated the clinical phenotype of 100 patients with Factor VII deficiency in our clinic, and we presented the current management status. Material and Methods: Between 1 January 2009 and 31 December 2021, patients aged 0-18 years at the time of diagnosis with Factor VII deficiency admitted to the Pediatric Haematology Clinic of our hospital were retrospectively reviewed. Demographic characteristics, bleeding phenotypes and laboratory parameters were evaluated together with FVII levels. Preparation for surgical procedures and management of acute bleeding events were recorded. Results: Of the 100 patients, the mean age at diagnosis was 97.3 ± 58.0 months. Sixty-four patients were included in the follow-up parameters and the mean follow-up period of these patients was 22.9 ± 31.9 months. 40 (40%) patients presented with prolonged bleeding, 54 (54%) with abnormal coagulation studies and 6 (6%) with family history. Of the 60 patients who did not present with prolonged bleeding, 30% had a history of bleeding episodes and 72.2% of the bleeding episodes were of mild clinical bleeding severity. They did not require any health institution referral and these 60 patients were diagnosed incidentally with a non-bleeding cause. Most patients were mildly factor deficient, 59%. Of the 100 patients, 41% were asymptomatic at baseline and during the complete follow-up period. Of the 59 patients with bleeding episodes, 46% experienced bleeding of mild clinical bleeding severity. The most common bleeding site was epistaxis. Female patients of menstruating age frequently presented with severe menstrual bleeding. There was no significant difference between the clinical bleeding severity groups in terms of gender, factor VII level and factor deficiency. The data showed that there was a correlation between INR value and factor VII deficiency. Conclusion: Our study is one of the most comprehensive studies in Turkey with 100 patients under 18 years of age from a single centre and highlights that FVII deficiency is not rare. The majority of the group presenting with abnormal investigations and family history described mild bleeding episodes and were diagnosed incidentally with a non-bleeding cause, suggesting that the prevalence is actually higher and there are cases waiting to be identified. Factor VII levels and coagulation parameters do not correlate with the severity of the clinical picture. Detailed questioning of family history and past bleeding episodes is important in the diagnosis and management of the patient. However, data from a larger cohort are needed to determine the factors affecting clinical bleeding severity and to clarify the clinical approach.