Heterozygous protein-S deficiency: a study of a large kindred.
Another family with protein-S deficiency is described here. The defect is characterized by a reduced level of total protein-S antigen; in addition, a markedly reduced level of free protein-S antigen was found. We have studied 20 family members. Ten of them showed reduced levels of protein-S antigen. Five of the affected patients manifested 'thrombophilia'. All the symptomatic patients developed the first thrombotic event at a young age. Heparin and oral anticoagulants were useful for the treatment of the acute phase of the thrombotic events, and in 1 symptomatic patient, the life-long oral anticoagulation treatment was effective in preventing relapses. On the other hand, all the symptomatic but untreated family members developed several recurrent thrombotic episodes.
Girolami
A
A
Second Chair of Medicine, University of Padua, Italy.
Simioni
P
P
Lazzaro
A R
AR
Pontara
E
E
Ruzza
G
G
D000328:Adult; D000368:Aged; D002352:Carrier Proteins / Q000032:analysis; D002648:Child; D003169:Complement Inactivator Proteins; D005260:Female; D005799:Genes, Dominant; D006023:Glycoproteins / Q000172:deficiency* / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017293:Protein S; D013927:Thrombosis / Q000235:genetics*
D002352:Carrier Proteins; D003169:Complement Inactivator Proteins; D006023:Glycoproteins; D017293:Protein S