INHERITED RESISTANCE TO ACTIVATED PROTEIN-C IN A BOY WITH MULTIPLE THROMBOSES IN EARLY INFANCY

Resistance to activated protein C is a recently discovered genetic def ect with a high prevalence in adult patients with thromboembolic disea se. It is an autosomal dominant disorder and is ten times more common in these patients than antithrombin III-, protein C- and protein S def iciency together. In spite of this high prevalence among adults with t hromboembolic disease no clinical manifestation in infancy so far has been reported. We describe a 4-year-old boy with a complex cardiac mal formation and inherited resistance to activated protein C, who develop ed multiple thromboses after cardiac catheterization in early infancy. Conclusion Resistance to activated protein C can cause thrombosis in infants and children if additional risk factors for the development of thrombosis are present.