Congenital protein C deficiency in patients with thromboembolic disease. Study of 4 Spanish families
Sala, N.; Muñiz, E.; Borrell, M.; Félez, J.; Fontcuberta, J.
Medicina Clinica 88(15): 569-573
1987
ISSN/ISBN: 0025-7753 PMID: 3600055 Document Number: 302142
The antigenic and functional activity of protein C (PC) was studied in 105 patients with venous thromboembolism. In four families a congenital PC deficiency was found as the only abnormality associated to thrombotic disease. The number of involved individuals was 12 out of the 25 studied members. Antigen PC (PCAg) was determined by ELISA; its functional activity (PCa) was spectrophotometrically measured after adsorption of the plasma in barium citrate and activation of the eluted PC with the thrombin-thrombomodulin complex. In three families the deficiency was quantitative (type I), with PCAg and PCa values between 33 and 44% of the control plasma. In one family the deficiency was qualitative (type II), with PCAg betwen 73 and 83% and PCa between 41 and 45% of the control plasma. Out of the total number of involved individuals, 7 were clinically asymptomatic. Six of these were younger than 30 years; the remaining patients had venous thromboembolic features, particularly recurrent deep venous thrombosis developing before age 40 in all cases.