Rare Bleeding Disorders: Strategy for Diagnosis and Management- A Tertiary Care Experience from North India

To diagnose rare coagulation factor deficiencies, study the varied clinical presentations along with their management and create a diagnostic algorithm in order to sensitize the treating physicians and diagnosticians for the effective management of patients. From the patients suspected of bleeding disorders, chief complaints and detailed bleeding history were recorded. A diagnostic algorithm was followed starting with first line tests for bleeding disorders which included prothrombin time, activated partial thrombin time, thrombin time, fibrinogen levels, liver function test and complete blood counts including platelet count. Isolated elevated PT or APTT were followed by mixing studies to confirm factor deficiency and inhibitor screen testing to rule out inhibitors. After ruling out common factor deficiencies (Haemophilia A and Haemophilia B), von Willebrand disease and platelet function defects, testing for RBD was done as per the diagnostic algorithm. A total of 66 patients were diagnosed with RBD. Male: female ratio was 1.1:1 with age varying from 1 month to 82 years, including 36 adults and 30 paediatric patients. Factor VII deficiency was most common with 22 cases (33.3%) followed by FX in 15 cases (22.7%), FXI in 12 cases (18.2%), FXIII deficiency in 11 cases (16.6%), FV in 3 cases (4.5%), FII in one case (1.5%) and combined FV + VIII comprised two cases (3%). Mucocutaneous bleeding was the commonest presentation. Moderate to severe bleeding episodes were most commonly observed in patients with FVII and FX deficiency with the mean age of presentation being 25.8 years and 22.9 years respectively. Mild to moderate bleeding episodes were observed in FV and XI deficiencies. The management of RBDs is usually based 'on demand'. The most common therapeutic product used was fresh frozen plasma in most of the cases, cryoprecipitate in patients with factor XIII deficiency mainly as a prophylactic therapy. Tranexamic acid was used in patients presenting with bleeding. Diagnosis and treatment of rare factor deficiencies is difficult. Knowledge of the clinical presentations, family history and availability of factor assay play a role in timely and correct diagnosis by using a diagnostic algorithm. In our study, we have provided the data from a tertiary referral centre of North India, Delhi which adds up to the limited data from our country.