ABSTRACT
Hereditary protein C deficiency is associated with a predisposition to venous thrombosis.
We identified 43 patients with protein C deficiency by screening approximately 26,800
patients admitted to the National Cardiovascular Center Hospital. The observed prevalence
of protein C deficiency was 1 per 620. We performed genetic analyses of 57 Japanese
families with protein C deficiency. Combined with the results of the other studies
in 10 families, the 67 Japanese families with protein C deficiency have been examined
and 39 different gene defects have been identified. Some changes were solely identified
in Japanese subjects, whereas others showed no such ethnic bias. The recurrent defects
of Phe139Val, Arg169Trp, Val297Met, and Met364Ile substitutions and a G8857 deletion
were found in 33 Japanese families, accounting for 49% of Japanese families with protein
C deficiency, Finally, we examined the relevance of protein C deficiency to the onset
of arterial occlusive diseases. In the examination of whether protein C deficiency
hastens arterial occlusion, we found a significant difference (p = 0.02) in the age at onset of acute myocardial infarction between the patients with
protein C deficiency (n = 10: 49.4 ± 14.8 years) and a group of patients with normal protein C levels (n = 42: 60.5 ± 10.6 years). At the onset of atherothrombotic cerebral infarction, the
patients with protein C deficiency were significantly (p = 0.022) younger (n = 11:57.4 ± 12.8 years) than those with normal protein C levels (n = 48: 64.6 ± 10.1 years). Thus, we conclude that congenital protein C deficiency
hastens the onset of arterial occlusive diseases, especially acute myocardial infarction,
in Japanese subjects.
KEYWORD
Protein C deficiency - prevalence - genetic analysis - arterial occlusion - acute
myocardial infarction
