脾梗塞をおこした先天性Antithrombin Ⅲ(AT Ⅲ)欠乏症Type Ⅰの一家系

Abstract

A family with inherited antithrombin Ⅲ (AT Ⅲ) deficiency is reported. The propositus was a 28-year-old male who first suffered from abdominal pain without any trigger at the age of 27. He was admitted to the hospital because of splenomegaly and splenic infarction and diagnosed as having splenic vein thrombosis. At the age of 28, he suffered a recurrence of abdominal pain accompanied by multiple pulmonary infarction. Most physical findings were normal. Laboratory blood count and blood chemistry examination revealed no significant abnormality. A detailed coagulation study revealed that both the activity and antigen of plasma ATⅢ were lower than those of normal adults. The ATⅢ levels of his mother, sisters, brother and niece were also decreased. The results of other coagulation tests such as those for heparin cofactor Ⅱ, Protein C, Protein S, and α₁-antitrypsin were essentially normal. The mobility of the patient's ATⅢ in the heparinized agarose gel on two dimensional crossed immunoelectrophoresis was identical to that of normal controls. These findings indicate that the family members possessed the Type Ⅰ ATⅢ deficiency described by Nagy.