Rare coagulation factor deficiencies: a five-year experience from a single tertiary care center in South India.

Abstract

Objective: Rare coagulation factor deficiencies (RCFD) comprise a heterogeneous class of coagulation disorders due to deficiencies/abnormalities in coagulation factors other than factors VIII, IX and von Willebrand factor (VWF). Due to its rarity and varying geographic prevalence, bleeding characteristics and behaviour pattern are not known. Our aim was to study the frequency and clinical profile of RCFD, assess the severity of deficiency, evaluate blood component requirements and surgical outcomes.

Methods: This is a retrospective cohort study done at Advanced Coagulation Laboratory, Amrita Hospital, Kerala from September 2018 to October 2023. Clinical characteristics including bleeding phenotype were noted. The patients were diagnosed based on their complete coagulation workup.

Results: Total of 1019 patients were evaluated, 93 (9.1%) patients had RCFD. Males and females were 60 (64.5%) and 33 (35.5%), respectively (M : F ratio 2 : 1). Median age at diagnosis was 26 years (range: 2 months-74 years). Half the patients (47) had bleeding episodes, 23 (25%) patients were detected incidentally and 23 (25%) patients as a part of preoperative evaluation. Mucocutaneous bleeding was the commonest symptom. The most common RCFD was factor VII deficiency (40%). Transfusion/hemostatic support was required for 29 (31.2%) patients during their life time. No adverse outcome was noted in 27 (29%) patients who underwent surgeries.

Conclusion: Factor VII deficiency was the commonest RCFD. Only half of the patients with RCFD were symptomatic. RCFDs generally have a favorable surgical/ pregnancy outcome. Data from resource limited settings are lacking; more studies are required to formulate management guidelines.