Coagulation-factor deficiencies and abnormal bleeding in Noonan's syndrome

Autor: Sharland, M., Patton, M.A., Talbot, S., Chitolie, A., Bevan, D.H.
Zdroj: The Lancet; January 1992, Vol. 339 Issue: 8784 p19-21, 3p
Abstrakt: Noonan's syndrome is characterised by a dysmorphic facies, congenital heart disease, and short stature, and is inherited as an autosomal dominant trait. Because abnormal bleeding has also been reported, we investigated a group of patients for coagulation-factor deficits. Of the 72 individuals studied (37 male, 35 female, mean age 11·4 years), 47 (65%) had a history of abnormal bruising or bleeding. 29 patients (40%) had a prolonged activated partial thromboplastin time. Specific abnormalities in the intrinsic pathway of coagulation (partial factor XI:C, XII:C, and VIII:C deficiencies) were found in 36 patients (50%). Multiple abnormalities among these 36 patients included combined factor XI:C and XII:C deficiencies (4 patients) and factor XI:C and VIII:C deficiencies (4), and 1 patient had combined factor VIII:C, XI:C, and XII:C deficiency. There was poor correlation between a history of abnormal bleeding and coagulation-factor deficit. In five families, similar coagulation-factor deficiencies were present in first-degree relatives with the syndrome. The pattern of inherited bleeding abnormalties seen in Noonan's syndrome suggests autosomal regulation of the intrinsic coagulation pathway.
Databáze: Supplemental Index
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