Noonan Syndrome: Assessment of Bleeding Disorders

TROIANO M; GOTTLIEB S; REY RA; VASQUEZ A; SCHWALB G; AVERSA L; JORGE A; KESELMAN A

Cartagena

Congreso; 22º Reunion Anual de la Sociedad Latino-Americana de Endocrinología Pediátrica (SLEP); 2011

Sociedad Latino-Americana de Endocrinología Pediátrica (SLEP)

Introduction: Noonan syndrome (NS) is an autosomal dominant disease characterized by facial dysmorphism, short stature, pubertal delay, cardiac defects, cryptorchidism and bleeding disorders. However, the prevalence of hematologic abnormalities varies from 20 to 74%. Since NS patients are frequently submitted to surgical procedures for co-morbidities, it is essential to assess hemostatic function. Aim: To describe and characterize hemostatic disorders in NS patients. Methods: We studied 13 patients (9 female, 9.7 yr) with Van der Burg criteria (6 with PTPN11 mutations). History of bleeding disorders was assessed with a questionnaire. Hematologic laboratory assessment included: protrombine time (PT), partial thromboplastin time (PTT), clot retraction, platelet count and function, bleeding time and factors levels. Results: Hematologic assessment was normal in 12 of 13 patients, despite a history of frequent hematoma (46%), epistaxis (15%) and gingival bleeding (39%). One patient had a platelet function disorder (storage pool disease). None of the patients submitted to surgery presented hematologic complications.Noonan syndrome (NS) is an autosomal dominant disease characterized by facial dysmorphism, short stature, pubertal delay, cardiac defects, cryptorchidism and bleeding disorders. However, the prevalence of hematologic abnormalities varies from 20 to 74%. Since NS patients are frequently submitted to surgical procedures for co-morbidities, it is essential to assess hemostatic function. Aim: To describe and characterize hemostatic disorders in NS patients. Methods: We studied 13 patients (9 female, 9.7 yr) with Van der Burg criteria (6 with PTPN11 mutations). History of bleeding disorders was assessed with a questionnaire. Hematologic laboratory assessment included: protrombine time (PT), partial thromboplastin time (PTT), clot retraction, platelet count and function, bleeding time and factors levels. Results: Hematologic assessment was normal in 12 of 13 patients, despite a history of frequent hematoma (46%), epistaxis (15%) and gingival bleeding (39%). One patient had a platelet function disorder (storage pool disease). None of the patients submitted to surgery presented hematologic complications.Aim: To describe and characterize hemostatic disorders in NS patients. Methods: We studied 13 patients (9 female, 9.7 yr) with Van der Burg criteria (6 with PTPN11 mutations). History of bleeding disorders was assessed with a questionnaire. Hematologic laboratory assessment included: protrombine time (PT), partial thromboplastin time (PTT), clot retraction, platelet count and function, bleeding time and factors levels. Results: Hematologic assessment was normal in 12 of 13 patients, despite a history of frequent hematoma (46%), epistaxis (15%) and gingival bleeding (39%). One patient had a platelet function disorder (storage pool disease). None of the patients submitted to surgery presented hematologic complications.Methods: We studied 13 patients (9 female, 9.7 yr) with Van der Burg criteria (6 with PTPN11 mutations). History of bleeding disorders was assessed with a questionnaire. Hematologic laboratory assessment included: protrombine time (PT), partial thromboplastin time (PTT), clot retraction, platelet count and function, bleeding time and factors levels. Results: Hematologic assessment was normal in 12 of 13 patients, despite a history of frequent hematoma (46%), epistaxis (15%) and gingival bleeding (39%). One patient had a platelet function disorder (storage pool disease). None of the patients submitted to surgery presented hematologic complications.Results: Hematologic assessment was normal in 12 of 13 patients, despite a history of frequent hematoma (46%), epistaxis (15%) and gingival bleeding (39%). One patient had a platelet function disorder (storage pool disease). None of the patients submitted to surgery presented hematologic complications. Conclusion: Bleeding signs do not seem to be due to coagulation disorders in the NS patients reported in this study.Bleeding signs do not seem to be due to coagulation disorders in the NS patients reported in this study.