An account of congenital rare bleeding disorders: a systematic study from a tertiary care centre in Eastern India

Background: Rarity of rare bleeding disorders (RBDs) is attributed to very low incidence based on ethnicity, distribution and complexity of diagnostic tools. There is scarcity of data on RBDs from Eastern India. This study aims to understand the distribution of RBDs in this region for better patient care. Methods: Retrospective study conducted on patients presented with symptoms/signs of bleeding from January 2018 to December 2019 (two years). Patients having bleeding manifestations from causes other than inherited coagulation disorders, IPDs, and vWD were included. Complete haemogram, peripheral blood smear, coagulation tests, vWD assay and platelet function tests were carried out. Results: Out of 2415 patients, 1570 were included after exclusion of other diseases. Immune Thrombocytopenia (ITP) and Hemophilia being excluded, 40/1570 (2.5%) patients were found to have RBDs. Median age was 11.6 years (range, 1.25-40 years). Most common was IPDs (2.9%, n=19); Glanzmann thrombasthenia was commonest (1.5%, n=10).  vWD was second (1.7%, n=11) in occurrence; vWD type-III was the commonest subtype (0.9%, n=6). ICDs comprised 1.5% (n=10) of all patients; congenital afibrinogenemia (0.6%, n=4) was most common. Other ICDs prevalent in this cohort included FVII, FV, FX and FXIII deficiencies. Most common presentations were ecchymoses or prolonged bleeding from cut injuries or menorrhagia. Conclusions: RBDs may present in varied ways and are often difficult to diagnose correctly. Distribution of RBDs in this patient cohort differs from published literature from Western studies.