title: Two cases of inherited triple deficiency in a large kindred with thrombotic diathesis and deficiencies of antithrombin III, heparin cofactor II, protein C and protein S.
abstract: Thirty-three subjects, belonging to a large family with functional antithrombin III (ATIII) deficiency (type IIa) and recurrent thromboembolism, were investigated for ATIII, heparin cofactor II (HCII), protein C (PC) and protein S (PS). We report the exceptional finding of two cases of triple deficiency: ATIII combined with HCII and PC in the first case aged 15 and ATIII combined with HCII and PS in the second case aged 27. Interestingly, both are asymptomatic thus far. Twenty-five other deficient members were found, among which seven are affected with a double deficiency. Totally, the results of our study show 38 deficiencies of four distinct antithrombotic protein: ATIII (n = 9), HCII (n = 9), PC (n = 7) or PS (n = 13). Two types of HCII deficiency were observed and type I PC deficiency was found. Functional PS deficiency was characterized by reduced levels of cofactor activity for activated PC. Our report demonstrates that combined deficiencies should be sought in a family already known to be deficient in one antithrombotic protein.
authors.affiliation: Centre d'Hématologie et d'Immunologie Clinique, Hôpital du Saint-Sacrement, Québec, Canada.
authors.forename: F
authors.initials: F
authors.lastname: Jobin
authors.forename: L
authors.initials: L
authors.lastname: Vu
authors.forename: M
authors.initials: M
authors.lastname: Lessard
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D020152:Antithrombin III Deficiency; D001798:Blood Proteins / Q000172:deficiency* / Q000235:genetics; D002648:Child; D004198:Disease Susceptibility / Q000097:blood*; D005260:Female; D006023:Glycoproteins / Q000172:deficiency; D015844:Heparin Cofactor II / Q000172:deficiency; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D020151:Protein C Deficiency; D017293:Protein S; D013927:Thrombosis / Q000097:blood* / Q000235:genetics
chemical_list: D001798:Blood Proteins; D006023:Glycoproteins; D017293:Protein S; D015844:Heparin Cofactor II