Volume 28, Issue 150, August 2024

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

Anna Józefiak^1♦, Magdalena Szczepanik², Cezary Bochyński³, Przemysław Hałasiński⁴, Dominika Kropidłowska⁵, Maciej Horbaczewski⁶, Kinga Piela⁷, Jolanta Mazurek⁸, Gabriela Mazurek⁹, Maria Myślicka¹⁰, Patryk Góralski¹¹, Klaudia Włodarczyk¹⁰

¹Department of Internal Diseases and Endocrinology, Gabriel Narutowicz Municipal Specialist Hospital in Cracow, Prądnicka 35-37, 31-202 Cracow, Poland
²Department of Pediatrics, District Hospital in Chrzanów, Topolowa 16, 32-500 Chrzanów, Poland
³Department of Internal Medicine, Railway Hospital. Włodzimierz Roefler, MD, PhD in Pruszków, Warsztatowa 1, 05-800 Pruszków, Poland
⁴Clinical Department of Gastroenterology, Metabolic, Internal Diseases and Dietetics, University Clinical Hospital in Poznań, 49 Przybyszewskiego, 60-355 Poznań, Poland
⁵Polish Red Cross Maritime Hospital in Gdynia, Powstania Styczniowego 1, 81-519 Gdynia, Poland
⁶Hospital Emergency Department, District Health Center Kartuzy, Floriana Ceynowy 7, 83-300 Kartuzy, Poland
⁷Hospital Emergency Department, University Clinical Hospital. Fryderyk Chopin in Rzeszów, Fryderyka Szopena 2, 35-055 Rzeszów, Poland
⁸Primary Health Care, Private health care facility "ALMUS" Jacek Pieniazek, Białoboki 137, 37-207 Gać, Poland
⁹Department of Cardiology and Internal Diseases, Gabriel Narutowicz Municipal Specialist Hospital in Cracow, Prądnicka 35-37, 31-202 Cracow, Poland
¹⁰Wroclaw Medical University, wyb. Ludwika Pasteura 1, 50-367 Wroclaw, Poland
¹¹University Clinical Center in Gdańsk, Dębinki 7, 80-952 Gdańsk, Poland

^♦Corresponding Author
Department of Internal Diseases and Endocrinology, Gabriel Narutowicz Municipal Specialist Hospital in Cracow, Prądnicka 35-37, 31-202 Cracow, Poland

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.

Keywords: Glanzmann’s thrombasthenia, Bleeding, diagnosis, treatment, inherited thrombocytopathy

Medical Science, 2024, 28, e99ms3403

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DOI: https://doi.org/10.54905/disssi.v28i150.e99ms3403

Published: 16 August 2024