Acquired Glanzmann thrombasthenia: a rare disorder
- PDF / 1,080,024 Bytes
- 6 Pages / 595.276 x 790.866 pts Page_size
- 86 Downloads / 191 Views
CASE REPORT
Acquired Glanzmann thrombasthenia: a rare disorder Balkrishna Padate 1 & Dia Mansukhani 2 & Farah Jijina 3 & Shanaz Khodaiji 4 Received: 6 December 2019 / Accepted: 11 October 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Qualitative platelet function defects may be congenital, e.g., Glanzmann thrombasthenia, or acquired. Acquired platelet function disorders are more common than reported. Glanzmann thrombasthenia, an inherited platelet function disorder, is caused by mutations in the ITGA2B and ITGB3 genes encoding the αIIbβ3 integrin. An acquired form of GT is also seen, which is caused by antibodies to platelet integrin αIIbβ3. This affects fibrinogen binding and blocks platelet aggregation. These patients have low platelet count with a moderate-to-severe bleeding tendency, while some patients may have normal platelet counts. It is commonly found in association with autoimmune disorders, hematological malignancies, and infections. Glanzmann thrombasthenia-like state can also be seen in immune thrombocytopenic purpura (ITP) due to presence of antibodies to αIIbβ3. These patients present with severe bleeding even with mild thrombocytopenia. We describe a patient of ITP with borderline low platelet count and severe bleeding, who posed a diagnostic challenge. However, an accurate diagnosis and suitable management helped to avoid catastrophic bleeding. Keywords Acquired Glanzmann thrombasthenia . Glanzmann thrombasthenia . Immune thrombocytopenic purpura . Platelet aggregation . Platelet integrin αIIbβ3
Introduction Inherited Glanzmann thrombasthenia (GT) is an autosomal recessive bleeding disorder with absent or dysfunctional platelet integrin alphaIIbbeta3 (αIIbβ3), previously known as GPIIb/IIIa, causing failure of platelets to bind to fibrinogen resulting in blocking of platelet aggregation. It is caused by mutations encoding the integrin αIIbβ3 [1]. Clinical manifestations range from easy bruising to severe life-threatening
hemorrhages [2]. In contrast to this, acquired GT (aGT) is a rare hemorrhagic disorder caused by autoantibodies, alloantibodies, or paraproteins directed against platelet αIIbβ3 [3]. It is usually associated with autoimmune conditions, pregnancy, various hematological malignancies, previous platelet transfusions, and some drugs; e.g., quinidine and quinine are known to form antibodies to αIIbβ3 [3, 4]. Abciximab, eptifibatide, and tirofiban act by blocking αIIbβ3 function [5]. Acquired GT is usually accompanied by thrombocytopenia [6]. Patients
The work has been carried out at the P.D. Hinduja Hospital and Medical Research Centre, Mumbai, India, by the Departments of Clinical Hematology and Laboratory Medicine, Hematology Section * Shanaz Khodaiji [email protected]
1
Balkrishna Padate [email protected]
Department of Hematology, Hemato-oncology and BMT, P. D. Hinduja Hospital & Medical Research Centre, Mumbai 400016, India
2
Department of Hematopathology, Laboratory Medicine, P. D. Hinduja Hospital & Medical Research Centre, Mumbai
Data Loading...
