Homozygous protein C deficiency with moderately severe clinical symptoms.
We report a large family with two members homozygotes for protein C deficiency, with activity levels of 5% and 9%. Thirteen additional members were heterozygotes, with protein C activity ranging from 36-66% and equally low levels of protein C antigen. The homozygotes presented with recurrent deep-vein thromboses and pulmonary emboli, but have reached the ages of 26 and 37 years. Hence, protein C levels of 5% appear sufficient to avoid life-threatening clinical symptoms in the neonatal period.
D000293:Adolescent; D000328:Adult; D000368:Aged; D001778:Blood Coagulation Disorders / Q000235:genetics*; D002648:Child; D005260:Female; D006023:Glycoproteins / Q000172:deficiency* / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011486:Protein C; D011655:Pulmonary Embolism / Q000097:blood / Q000150:complications / Q000235:genetics*; D013924:Thrombophlebitis / Q000097:blood / Q000150:complications / Q000235:genetics*
D006023:Glycoproteins; D011486:Protein C