A retrospective clinicopathological study of inherited bleeding disorders in a tertiary care centre of Uttar Pradesh

Abstract

BACKGROUND: Inherited Bleeding Disorders (IBD) include various disease that reflect abnormalities of primary and secondary hemostasis. The pathophysiology of these disorders can be explained on the basis of vessel wall abnormalities, platelet disorders and coagulation factor defects. To further elaborate and enhance our understanding on these disorders, a 6-year retrospective study (2014-2020) was conducted on the patients referred to the coagulation section of the Hematology Department (Department of Pathology, IMS BHU). These included the ones who had suffered from bleeding tendencies at one or more sites with other relevant clinical history. AIM: - This study was aimed to assess the prevalence, clinical spectrum, and haematological profile of inherited bleeding disorder among patients of Eastern UP and Bihar. It also focussed on various epidemiological factors including age, sex, family inheritance and consanguinity. MATERIALS AND METHODS: Three hundred and two patients matched our criteria. The age of these patients ranged from neonate to 50. A detailed relevant clinical history was taken for all the patients. These categories of patients were screened with routine tests like platelet count, Prothrombin Time (PT), Active Partial Thromboplastin Time (APTT), Breathing Time (BT), Clotting Time (CT) and a Complete Blood Cell Count (CBC). A factor assay was performed if indicated by the results of the screening assays. RESULTS: Out of 302 patients, 280patients (92.70%) were diagnosed with factor VIII deficiency. This category further comprised of 63.57% Hemophilia A cases (n=192), and 12.58%hemophilia B cases (n=38). Another cluster of 16.55% were diagnosed as Von Willebrand Disease (n=50). Also, a subset of the total patient population (7.30%) was diagnosed with an entity called Rare Inherited Coagulation Deficiency (RICD) which was further designated on the basis of specific factor assays. Most common clinical feature encountered was hematoma followed by ecchymosis, hemarthrosis, gum bleeding and epistaxis. CONCLUSION: The most common IBD was Hemophilia A in this subcategory of patients. Children under 5 year age were most affected making it the most vulnerable age group amounting to 38.73% of all recorded cases. Male population was more affected forming majority of the patients. Sporadic cases were more common than the inherited ones.