1. A rare case of glanzmann thrombasthenia with concomitant factor VII deficiency.
- Author
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Zohair M, Qayoom A, Luqman M, Ahmed M, and Khan MT
- Subjects
- Humans, Female, Tranexamic Acid therapeutic use, Platelet Transfusion, Adult, Consanguinity, Factor VIIa therapeutic use, Menorrhagia etiology, Thrombasthenia complications, Thrombasthenia diagnosis, Thrombasthenia genetics, Factor VII Deficiency complications, Factor VII Deficiency diagnosis
- Abstract
Glanzmann thrombasthenia and clotting factor VII deficiency are rare autosomal recessive bleeding disorders. But the occurrence of both in the same person is an extremely rare phenomenon. Here, we present the case of a young female from Sindh, Pakistan that got diagnosed with Glanzmann thrombasthenia and concomitant moderate factor VII deficiency, a combination not previously reported in the country. The patient exhibited typical clinical manifestations including menorrhagia, nasal bleeds, and prolonged bleeding after minor injuries, compounded by a positive family history and consanguinity. Laboratory investigations revealed marked anemia, prolonged bleeding time, and abnormal platelet aggregation studies consistent with Glanzmann thrombasthenia. The identification of this rare combination relied on comprehensive clinical evaluation, emphasizing the importance of family history in suspected cases. Management involved platelet transfusions, tranexamic acid, and Factor VII replacement, resulting in clinical improvement., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
- Published
- 2024
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