title: [Congenital thrombophilia caused by protein C deficiency].
abstract: To clarify the prevalence of protein C deficiency in patients with cardiovascular problems, we identified 54 patients with protein C deficiency by screening approximately 26,800 patients. The observed prevalence of protein C deficiency was 1 in 500. From the results of genetic analysis of 67 Japanese families with protein C deficiency, the recurrent defects of Phe139Val, Arg169Trp, Val297Met, Met364Ile substitutions and a G8857 deletion were accounting 49% of Japanese families with protein C deficiency. The defects including Phe139Val and Met364Ile substitutions and a G8857 deletion were only found in Japanese subjects and seemed to be a founder effect. Protein C deficiency is associated with a predisposition to venous thrombosis. It is not clear whether the deficiency is involved in arterial occlusion. We identified 34 patients with protein C deficiency manifested 45 episodes of arterial occlusive disease. We compared the onset age of arterial occlusive disease between patients with protein C deficiency and a group of patients with normal protein C levels. We found the early onset of acute myocardial infarction and atherothrombotic cerebral infarction in patients with protein C deficiency. Thus, our study suggests that congenital protein C deficiency contributes to earlier onset of arterial occlusive diseases in Japanese subjects.
authors.affiliation: National Cardiovascular Center Research Institute, Osaka.
authors.forename: T
authors.initials: T
authors.lastname: Miyata
authors.forename: H
authors.initials: H
authors.lastname: Kato
authors.forename: T
authors.initials: T
authors.lastname: Sakata
authors.forename: Y
authors.initials: Y
authors.lastname: Katayama
authors.forename: S
authors.initials: S
authors.lastname: Baba
authors.forename: T
authors.initials: T
authors.lastname: Mannami
authors.forename: J
authors.initials: J
authors.lastname: Ogata
mesh_terms: D001157:Arterial Occlusive Diseases / Q000209:etiology; D044466:Asian People; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D006801:Humans; D007564:Japan / Q000453:epidemiology; D009203:Myocardial Infarction / Q000209:etiology; D015995:Prevalence; D011486:Protein C / Q000737:chemistry / Q000502:physiology; D020151:Protein C Deficiency / Q000151:congenital* / Q000453:epidemiology / Q000235:genetics; D019851:Thrombophilia / Q000209:etiology*
chemical_list: D011486:Protein C