Glanzmann Thrombasthenia : A rare case or recurrent epistaxis in a young boy

Glanzmann thrombasthenia is a rare autosomal recessive bleeding disorder of platelet

function caused by a qualitative or quantitative defect of platelet membrane glycoprotein
GP2b/3a required for platelet aggregation. Bleed in GT are variables and can be
unpredictable & severe. Some patients have only minimal bleeding while others have
frequent, severe and potentially fatal hemorrhages. In most cases bleeding occurs in a form of
epistaxis, ecchymosis, purpura, gingival bleeds and menorrhagia. Rarely GI bleeding &
hematuria May occurs. Most of cases present with bleeding symptoms soon after birth, but
some cases present at later life as well. Diagnosis should be suspected in a patient with
mucocutaneous bleeding with absent platelet aggregation in response to all physiological
stimuli and normal platelet count and morphology. Diagnosis is confirmed by flow
cytometry. We are here reporting a case of five-year-old Muslim male, born of
consanguineous marriage present to our OPD with history of repeated episodes of epistaxis
for past two years. On detailed history taking mother, reported mild moderate bruising over
extremities after minor trauma. Amongst the investigations CBC showed a normal platelet
count and peripheral smear showed normal and platelet size and morphology. PT INR, APTT
were normal. However, bleeding time was prolonged Flow cytometric revaluation of child’s
sample showed lack of GP2b/3a receptor confirming diagnosis of Glanzmann
thrombasthenia. Child was given RDP and antifibrinolytics (Tranexamic acid) was started to
which the child responded. Use of recombinant factors VIIA is increasingly used alternative
GT can be a severe hemorrhagic disease, however prognosis is excellent with carefully
supportive care.