title: Treatment with stanozolol of type I protein C deficiency in an Italian family.
abstract: Functional and immunological assays specific for protein C were employed in the study of a family with congenital protein C deficiency associated with venous thromboembolism. By both assays, four members of the family belonging to two generations had half-normal PC levels. These findings, as well as the normal mobility of the protein in crossed immunoelectrophoresis, suggest that PC deficiency in this family is due to the decreased synthesis of a functionally normal protein. In one member of the family oral administration of the anabolic steroid stanozolol increased PC levels until normal values, suggesting that the defect can be overcome by pharmacological stimulation of protein synthesis.
mesh_terms: D000328:Adult; D001778:Blood Coagulation Disorders / Q000188:drug therapy* / Q000235:genetics; D001779:Blood Coagulation Factors / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D007123:Immunoelectrophoresis, Two-Dimensional; D008297:Male; D010375:Pedigree; D011486:Protein C; D013197:Stanozolol / Q000627:therapeutic use*; D013923:Thromboembolism / Q000188:drug therapy* / Q000235:genetics
chemical_list: D001779:Blood Coagulation Factors; D006023:Glycoproteins; D011486:Protein C; D013197:Stanozolol