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Glanzmann thrombasthenia

Glanzmann thrombasthenia (GT) is a rare inherited blood clotting disorder that is present at birth. It is characterized by the impaired function of specialized blood cells, called platelets, that are essential for proper blood clotting

Prevalence

1 / 1 000 000

200–500

US Estimated

300–800

Europe Estimated

Age of Onset

Infancy

ICD-10

D69.1

Inheritance

Autosomal dominant

Autosomal recessive

Mitochondrial/Multigenic

X-linked dominant

X-linked recessive

5 Facts you should know

FACT

GT is an autosomal recessive bleeding disorder caused by mutations in ITGA2B or ITGB3, resulting in defective or absent platelet integrin αIIbβ3 (glycoprotein IIb/IIIa), crucial for platelet aggregation

FACT

Affected individuals present with mucocutaneous bleeding, including epistaxis, gingival bleeding, easy bruising, and menorrhagia; spontaneous bleeding may be severe in homozygous or compound heterozygous cases

FACT

Platelet count and morphology are normal, but platelet aggregation studies show absent response to all agonists except ristocetin, aiding in diagnosis

FACT

Recombinant activated factor VII (rFVIIa) is commonly used to manage bleeding episodes, especially in patients who have developed antibodies or are refractory to platelet transfusions

FACT

Definitive treatment may include hematopoietic stem cell transplantation (HSCT) in severe, transfusion-dependent cases, though this approach is rare and reserved for select patients

Interest over time

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