Clinical Management of a Rare Hereditary Bleeding Disorder in an Adult: Glanzmann Thrombasthenia

Cureus. 2024 Oct 25;16(10):e72391. doi: 10.7759/cureus.72391. eCollection 2024 Oct.

Abstract

Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding disorder affecting the megakaryocyte lineage and is associated mainly with mucocutaneous bleeding. We herein report a woman in her early 40s, with no known comorbidities, who presented with severe gingival bleeding and severe fatigue. Past history revealed recurrent gingival bleeding, bruising, and heavy menstrual bleeding. Platelet aggregation studies revealed normal aggregation. Finally, a diagnosis of GT with microcytic hypochromic anemia was established after ruling out all the other differential diagnoses. The patient was transfused with multiple units of packed cells (PCs), random donor platelets (RDPs), and single donor platelets (SDPs) and treated with intravenous (IV) and topical tranexamic acid. Our patient presented with a rare bleeding disorder very late in life. GT can be potentially life-threatening and is difficult to diagnose in the early stages. Therefore, it is imperative to highlight the importance of early diagnosis of this rare condition to provide supportive care for a good prognosis.

Keywords: autosomal recessive inheritance; deficient platelet aggregation; gingival hemorrhage; hereditary hemorrhagic thrombasthesia; mucocutaneous bleeding; platelet abnormality.

Publication types

  • Case Reports