Thromb Haemost 1991; 66(03): 295-299
DOI: 10.1055/s-0038-1646410
Review Article
Schattauer GmbH Stuttgart

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[*]

F Jobin
1  The Laboratoire d'Hémostase-Thrombose, Centre d'Hématologie et d'Immunologie Clinique, Hôpital du Saint-Sacrement, Québec, Canada
,
L Vu
1  The Laboratoire d'Hémostase-Thrombose, Centre d'Hématologie et d'Immunologie Clinique, Hôpital du Saint-Sacrement, Québec, Canada
,
M Lessard
2  I'Hôpital Hôtel-Dieu de Gaspé, Québec, Canada
› Author Affiliations
Further Information

Publication History

Received 11 September 1990

Accepted 25 February 1991

Publication Date:
04 September 2018 (online)

Summary

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.

*This paper is the complete report of an abstract submitted to the XIIth Congress of the International Society on Thrombosis and Haemostasis, Tokyo 1989, and presented at Poster Presentations. Abstract No. 1214.