Missed at first Glanz: Glanzmann thrombasthenia initially misdiagnosed as Von Willebrand Disease
Autor: | Dearbhla Doherty, Michelle Lavin, Niamh M O'Connell, Mary Byrne, James S. O’Donnell, Kevin M. Ryan, Evelyn Singleton |
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Rok vydání: | 2019 |
Předmět: |
Adult
medicine.medical_specialty Abnormal platelet aggregation 030204 cardiovascular system & hematology Gastroenterology 03 medical and health sciences 0302 clinical medicine Von willebrand hemic and lymphatic diseases Internal medicine Von Willebrand disease medicine Humans Platelet biology business.industry Hematology medicine.disease von Willebrand Diseases Recombinant factor VIIa Glanzmann thrombasthenia biology.protein Female Antibody business Antibody screening Thrombasthenia 030215 immunology |
Zdroj: | Transfusion and Apheresis Science. 58:58-60 |
ISSN: | 1473-0502 |
DOI: | 10.1016/j.transci.2018.11.008 |
Popis: | Glanzmann thrombasthenia (GT) is an autosomal recessive bleeding disorder caused by a defect in platelet integrin αIIbβ3. Given the rarity of the condition (1/1,000,000), assessment and diagnosis should be undertaken in a specialist centre. We report the case of a 34 year old woman with severe menorrhagia and a childhood diagnosis from another centre of Von Willebrand Disease. She had an extensive bleeding history, with epistaxis, menorrhagia and postoperative bleeding requiring multiple previous transfusions. Repeat haemostatic workup in our centre revealed normal Von Willebrand levels but abnormal platelet aggregation consistent with Glanzmann thrombasthenia. Antibody screening detected both anti-HLA and anti-αIIbβ3 antibodies, complicating subsequent haemostatic management. This case highlights the importance of diagnostic accuracy, the potential negative sequelae of misdiagnosis and subsequent therapeutic interventions. |
Databáze: | OpenAIRE |
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