Evaluation of bleeding diathesis in patients with Noonan syndrome and comparison with thromboelastography (TEG) test results: A single center experience

Abstract

Objective: Patients with Noonan syndrome (NS), who may need various surgical interventions throughout their lives, need to be evaluated carefully in the preoperative period due to the risk of bleeding diathesis. There is a limited number of studies evaluating bleeding diathesis in patients with NS. In this study, we aimed to determine the frequency of bleeding diathesis in patients with NS and to evaluate the place of thromboelastography (TEG) in determining the risk of bleeding. Method: In our study, bleeding score and coagulation test results obtained from the files of 12 patients with NS were evaluated. Results: The most frequently detected factor deficiency is vWF deficiency (41%), followed by platelet dysfunction (33%). Two cases with a bleeding score of 2 or above were detected, and in one of them, both platelet dysfunction (response to epinephrine in platelet aggregometer, 7%) and vWF deficiency (vWF Ag: 20%), and in the other case, mild Factor VII deficiency (17%) were detected. TEG results of nine patients were normal. TEG abnormality was detected in three patients and 2 of them had bleeding phenotype. Conclusion: As a result, although laboratory examinations in patients with NS often yield values consistent with bleeding diathesis, bleeding event does not occur in most patients. We suggest that with the use of the TEG method, the risk of bleeding can be predicted and unnecessary treatments can be prevented.