Trombastenia Glanzmanna – obraz kliniczny, diagnostyka, postępowanie

Barbara Choińska, *Paweł Łaguna, Michał Matysiak

Summary
Glanzmann thrombasthenia (GT) is a rare autosomal recessive disorder, caused by quantitative or qualitative defect of the membrane integrin αIIbβ3, a platelet receptor binding adhesive proteins in the initial stage of the coagulation process. Incorrect aggregation connected to αIIbβ3 m utation is the cause of severe and challenging bleedings. In most cases bleeding symptoms manifest in early childhood. It comprises bruising, epistaxis, gingival bleedings, menorrhagia, bleeding after injury or surgery, gastrointestinal bleeding or haematuria. GT should be suspected in patients with a normal platelet count and morphology, with absent platelet aggregation and abnormal clot retraction. Diagnosis should be confirmed by flow cytometry or genetic studies. First line treatment of severe bleeding are platelet transfusions or recombinant factor VIIa (rFVIIa) in case of refractoriness to transfusion. This review will discuss the clinical presentation, diagnosis and treatment of thrombocytopathy on the example of Glanzmann thrombastenia.

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