Thromboxane A2 Deficit Diagnosis in a Patient with Suspicion of Von Willebrand Disease

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Author Info

Esteban Echeverri-Fernandez Maria Juliana Varela Francisco Jaramillo

Corresponding Author

Francisco Jaramillo
Department of Internal Medicine, Hematology Service, Fundación Valle del Lili, Cali, Colombia

A B S T R A C T

Thromboxane A2 receptor deficiency is a qualitative platelet disorder that partially impedes adequate platelet signaling and aggregation. Generally, these patients have mild hemorrhagic manifestations in basal conditions, but may show severe bleeding when faced with a hemostatic challenge. We present the case of a 30-year-old female patient that arrives at the Hematology service with an undiagnosed bleeding disorder. She presented hemorrhagic complications during an augmentation mammoplasty and during an exodontia procedure, yet, during a C-section she presented none. At the first consultation she had normal coagulation factor levels by coagulometry, and normal platelet aggregation test for ADP, ristocetin, collagen and epinephrine. A platelet aggregation test for arachidonic acid confirmed thromboxane A2 deficit disorder. Thromboxane A2 deficit disorder is a rare qualitative platelet disorder that requires an extensive knowledge of coagulation and platelet function and tests, and a high level of clinical suspicion. These tests are especially difficult to interpret during pregnancy due to normal modifications to bodily function during this process.

Article Info

Article Type

Case Report

Publication history

Received: Fri 29, Jan 2021
Accepted: Tue 09, Feb 2021
Published: Fri 26, Feb 2021

Copyright

© 2023 Francisco Jaramillo. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Hosting by Science Repository.
DOI: 10.31487/j.TCR.2021.01.01