Glanzmann thrombasthenia—A not so rare platelet function disorder in Pakistan

Abstract

ObjectivesTo determine the prevalence, clinical manifestations and laboratory findings of Pakistani Glanzmann Thrombasthenia patients and to assess the treatment received by these patients. Materials and MethodThis cross-sectional study examined 2542 patients over a period of 10 years who were referred with a suspicion of a platelet function disorder. Clinical details, laboratory parameters and treatment received were noted. ResultsGlanzmann thrombasthenia constituted 80.15% of the platelet function disorders. Of these, males were 112 (34.25%) while females were 215 (65.75%). Median age at diagnosis was 9 yrs 2 months (range of 8 months to 26 years) and at first presentation was 4 years 3 months (range of 3 months to 12 years). Consanguinity was observed in 85.32% of the patients. Common clinical features were easy bruisability (85%), epistaxis (78.6%) and gum bleed (56.3%). Mean haemoglobin was 8.6+2.46 g/dl and mean bleeding time was > 15 min. All patients showed no aggregation with collagen, ADP and epinephrine and a normal response to ristocetin on light transmission aggregometry. ConclusionWe have reported a large number of patients of Glanzmann thrombasthenia, a disorder which is not so rare in our population, emphasizing the importance of early diagnosis and appropriate management.