Inherited platelet function disorders in children – A diagnostic conundrum solved by multimodality testing

Abstract

Inherited platelet function disorders (IPFDs) are an extremely rare cause of bleeding in hematological practice. These disorders have varied clinical presentations and heterogeneous underlying pathologies. The IPFDs remain largely undiagnosed or misdiagnosed due to lack of clinical suspicion, masquerading as other acquired causes of bleeding and unavailability of specialized tests in resource constraint settings. Glanzmann thrombasthenia (GT) and Bernard–Soulier syndrome (BSS) are rare autosomal recessive platelet surface receptor disorders of glycoprotein (GP)IIb/IIIa and GPIb/IX/V, respectively, with an estimated prevalence of 1/1,000,000 individuals. Six children presenting with profuse bleeding were evaluated. Complete clinical details of bleeding history along with family history and history were taken. A complete hemogram and peripheral smear examination were done. Coagulation studies, light transmission aggregometry coupled with flow cytometry (FCM) for platelet GP expression, were done to determine the cause of bleeding. In the present series, five young children were diagnosed as GT from two different families, and one case was diagnosed as BSS in a young female child, which was misdiagnosed as immune thrombocytopenia at presentation. Careful re-evaluation coupled with clinical history and FCM analysis leads to a confirmed diagnosis. The complex and heterogeneous pathogenesis of rare IPFDs continues to challenge clinicians and the diagnostic laboratories that assess patients for potential bleeding disorders. A high index of suspicion coupled with utilizing multi diagnostic modalities in these rare disorders can clinch the correct diagnosis and help in timely management.