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Hemostatic abnormalities in Noonan syndrome.
Andrea Artoni1, Angelo Selicorni2, Serena M Passamonti1
1Department of Internal Medicine and Medical Specialties, A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy;
Pediatrics
|April 23, 2014
Summary
Noonan syndrome frequently causes bleeding diathesis, often linked to coagulation and platelet function abnormalities. Investigating these factors is crucial for managing bleeding risks and procedures in affected individuals.
Area of Science:
- Hematology
- Genetics
- Pediatrics
Background:
- Noonan syndrome is frequently associated with a bleeding diathesis.
- Coagulation abnormalities are known, but platelet function remains understudied.
Purpose of the Study:
- To evaluate the bleeding diathesis in Noonan syndrome patients.
- To investigate coagulation and platelet function in this cohort.
Main Methods:
- Utilized a validated bleeding score to assess bleeding diathesis.
- Performed coagulation and platelet function tests.
- Measured clotting factor activity when prothrombin time/activated partial thromboplastin time were prolonged.
Main Results:
- 38.5% of patients had moderate and 17.9% had severe bleeding diathesis.
- Abnormal coagulation/platelet tests were present in over 90% of patients with bleeding diathesis.
- Reduced platelet aggregation and secretion were observed in 82.9% of patients.
Conclusions:
- Nearly 40% of Noonan syndrome patients exhibit bleeding diathesis.
- Over 90% of these patients have platelet function and/or coagulation abnormalities.
- Coagulation and platelet function testing are vital for managing Noonan syndrome patients.
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