Constitutional heparin co-factor II deficiency associated with recurrent thrombosis.
The family of a 36-year-old man with recurrent deep venous thrombosis and heparin co-factor II (HC II) deficiency was investigated for this deficiency. The deficiency was inherited as an autosomal dominant trait. 4 members of the family had low HC II levels but only the proband had a history of thromboses; however, 2 of 4 affected were only 14 and 23 years old. The deficiency did not affect the anticoagulant action of heparin, with which the patient was treated.
Sie
P
P
Dupouy
D
D
Pichon
J
J
Boneu
B
B
D000293:Adolescent; D000328:Adult; D000941:Antigens / Q000032:analysis; D006023:Glycoproteins / Q000032:analysis / Q000172:deficiency* / Q000235:genetics / Q000276:immunology; D015844:Heparin Cofactor II; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011486:Protein C; D017293:Protein S; D012008:Recurrence; D013924:Thrombophlebitis / Q000097:blood / Q000235:genetics*
D000941:Antigens; D006023:Glycoproteins; D011486:Protein C; D017293:Protein S; D015844:Heparin Cofactor II