Hemostatic abnormalities in Noonan syndrome

Andrea Artoni, Angelo Selicorni, Serena M. Passamonti, Anna Lecchi, Paolo Bucciarelli, Marta Cerutti, Paola Cianci, Francesca Gianniello, Ida Martinelli

Research output: Contribution to journalArticlepeer-review

Abstract

BACKGROUND: A bleeding diathesis is a common feature of Noonan syndrome, and various coagulation abnormalities have been reported. Platelet function has never been carefully investigated. METHODS: The degree of bleeding diathesis in a cohort of patients with Noonan syndrome was evaluated by a validated bleeding score and investigated with coagulation and platelet function tests. If ratios of prothrombin time and/or activated partial thromboplastin time were prolonged, the activity of clotting factors was measured. Individuals with no history of bleeding formed the control group. RESULTS: The study population included 39 patients and 28 controls. Bleeding score was ≥2 (ie, suggestive of a moderate bleeding diathesis) in 15 patients (38.5%) and ≥4 (ie, suggestive of a severe bleeding diathesis) in 7 (17.9%). Abnormal coagulation and/or platelet function tests were found in 14 patients with bleeding score ≥2 (93.3%) but also in 21 (87.5%) of those with bleeding score 90% of them had platelet function and/or coagulation abnormalities. Results of these tests should be taken into account in the management of bleeding or invasive procedures in these patients.

Original languageEnglish
JournalPediatrics
Volume133
Issue number5
DOIs
Publication statusPublished - 2014

Keywords

  • Bleeding score
  • Coagulation
  • Noonan syndrome
  • Platelets

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Arts and Humanities (miscellaneous)
  • Medicine(all)

Fingerprint Dive into the research topics of 'Hemostatic abnormalities in Noonan syndrome'. Together they form a unique fingerprint.

Cite this