Diagnostic and treatment difficulties in a patient with anemia: Review with Glanzmann's Thrombasthenia

Introduction: Glanzmann's thrombasthenia (GT) is a rare disease inherited in an autosomal recessive manner.Qualitative or quantitative defect of the adhesive protein that binds to the platelet receptor in the coagulation process causes this disease.In most cases, symptoms appear in early childhood.The aim: This study aims to present the diagnostic and therapeutic problem in a patient with GT.Case report: A 70-year-old patient hospitalized due to symptomatic anemia.Initially the patient was diagnosed with hemophilia, later the diagnosis was changed to Glanzmann thrombasthenia.The patient's last hospitalization was in 2024, during which gastroscopy and colonoscopy was performed.No pathological changes were detected.Results: Glanzmann thrombasthenia is characterized by an average platelet count and morphology, standard prothrombin time, and standard partial thromboplastin time, accompanied by prolonged bleeding time.The diagnosis is usually based on flow cytometry, which shows the absence of GPIIb or GPIIIa molecules on the platelet surface.Conclusions: Glanzmann thrombasthenia (GT) is a rare genetic disease that causes symptoms of bleeding diathesis.Quick diagnosis and appropriate treatment are crucial for managing this condition.Treatment options include transfusions of platelet concentrate, antifibrinolytic drugs, recombinant factor VIIa, and hematopoietic cell transplantation.

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Publication Details

Journal
Medical Science
Published
2024-08-30
DOI
https://doi.org/10.54905/disssi.v28i150.e99ms3403
Primary Topic
Myeloproliferative Neoplasms: Diagnosis and Treatment
Type
article
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article

Diagnostic and treatment difficulties in a patient with anemia: Review with Glanzmann's Thrombasthenia

Anna Józefiak, Przemysław Hałasiński, Magdalena Szczepanik, Klaudia Włodarczyk et al.
Medical Science
Myeloproliferative Neoplasms: Diagnosis and Treatment
article

Diagnostic and treatment difficulties in a patient with anemia: Review with Glanzmann's Thrombasthenia

Anna Józefiak, Przemysław Hałasiński, Magdalena Szczepanik, Klaudia Włodarczyk, Cezary Bochyński, Maciej Horbaczewski, Dominika Kropidłowska, Maria Myślicka, Kinga Piela, Jolanta Mazurek, Patryk Góralski, Gabriela Mazurek
article en

Abstract

Introduction: Glanzmann's thrombasthenia (GT) is a rare disease inherited in an autosomal recessive manner.Qualitative or quantitative defect of the adhesive protein that binds to the platelet receptor in the coagulation process causes this disease.In most cases, symptoms appear in early childhood.The aim: This study aims to present the diagnostic and therapeutic problem in a patient with GT.Case report: A 70-year-old patient hospitalized due to symptomatic anemia.Initially the patient was diagnosed with hemophilia, later the diagnosis was changed to Glanzmann thrombasthenia.The patient's last hospitalization was in 2024, during which gastroscopy and colonoscopy was performed.No pathological changes were detected.Results: Glanzmann thrombasthenia is characterized by an average platelet count and morphology, standard prothrombin time, and standard partial thromboplastin time, accompanied by prolonged bleeding time.The diagnosis is usually based on flow cytometry, which shows the absence of GPIIb or GPIIIa molecules on the platelet surface.Conclusions: Glanzmann thrombasthenia (GT) is a rare genetic disease that causes symptoms of bleeding diathesis.Quick diagnosis and appropriate treatment are crucial for managing this condition.Treatment options include transfusions of platelet concentrate, antifibrinolytic drugs, recombinant factor VIIa, and hematopoietic cell transplantation.

Medical ScienceVol. 28(150)
Good health and well-being
Openalex Percentile: Top 75%
Myeloproliferative Neoplasms: Diagnosis and Treatment
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