Glanzmann Thrombasthenia

Description

  • Impaired platelet aggregation from genetic deficiency of GpIIb/IIIa

Etiology

  • Autosomal recessive inheritance

Mechanism

  • ↓ GpIIb/IIIa (a platelet integrin) → Defect in platelet plug formation

Symptoms and Signs

  • Bleeding from mucous membranes
  • Epistaxis, petechiae/purpura

Laboratory

  • ↑ Bleeding time
  • Normal PT/PTT
  • Normal platelet count and morphology

Treatment

  • Platelet transfusions with HLA-matched and leukocyte depleted blood products
  • Supportive care (iron and folate supplementation)

Differential Diagnosis

  • Bernard-Soulier (↓ platelet count, ↑ bleeding time, and ↓ GpIb)
  • ITP (↓ platelet count, ↑ bleeding time, and anti-GpIIb/IIIa antibodies)
  • TTP (↓ platelet count, ↑ bleeding time, and defet/deficient ADAMTS 13)