Журнал клинических случаев

Thinking of Rare Bleeding Disorders in the Emergency Room: A Diagnosis of Glanzmann Thrombasthenia in a Pakistani Child

Abstract

Salma Mainosh, Ayesha Akbar Khalid, Mushtaq Ahmed and Syeda Shaheera Hashmi Riaz

Introduction: Glanzmann thrombasthenia is a rare inherited bleeding disorder, with a global prevalence of about one in one million. It is an autosomal recessive condition characterised by episodes of mucocutaneous bleeding. A defect in the membrane protein results in a defective platelet aggregation.

Case presentation: A fifteen-month-old female child presented to the emergency department with nosebleed for the last two days. The patient had two similar episodes of epistaxis in previous few months which were managed at home. There was an accompanying complaint of easy bruising since birth. After emergency management and anterior nasal packing, extensive blood tests were ordered to determine the cause for recurrent haemorrhages. Platelet aggregation study concluded a diagnosis of Glanzmann thrombasthenia and the patient was treated accordingly. Family members were thoroughly counselled, and safety netting was vigilantly done.

Conclusion: Many public tertiary cares set ups in Pakistan lack the adequate diagnostic and therapeutic facilities for bleeding disorders. This does not only result in delaying appropriate care but also causes patients to remain undetected. Through this report, we aim to encourage emergency physicians to have a high index of suspicion for haematological disorders in patients presenting early in life with recurrent bleeding episodes.