Esteban Echeverri-Fernandez,Maria Juliana  Varela,Francisco  Jaramillo,
Thromboxane A2 Deficit Diagnosis in a Patient with Suspicion of Von Willebrand Disease
Transplantation Case Reports
2021
2733-2527
http://dx.doi.org/10.31487/j.TCR.2021.01.01
https://www.sciencerepository.org/thromboxane-a2-deficit-diagnosis-in-a-patient-with-suspicion_TCR-2021-1-101 
Abstract: 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.Keywords: Thromboxane A2 Receptor, thromboxane A2 receptor deficiency, thrombocytopathy, blood platelet disorder