Abstract
Protein C is the central component of a major anti-thrombotic regulatory system
and individuals with hereditary protein C deficiency (PCD) tend to have an
increased risk of thromboembolism. During the last several years, mutations
causing PCD have been identified in Western countries and in Japanese. In the
present study, we report a case of hereditary PCD with a missense mutation
(C6218T) in a 44 year old female with recurrent pulmonary thromboembolism. The
protein C activity (35%) and antigen (58%) levels in this patient were
decreased. Furthermore, we have identified the same molecular defect and PCD in
other asymptomatic family members including proband's mother and two daughters
and one son. To our knowledge, this is the first case of hereditary PCD with
identified genetic defect in the Korean population, which may be one of hot
spots for mutation in the protein C gene.