|
|
Br Med J (Clin Res Ed). 1984 November 10; 289(6454): 1285–1287. | PMCID: PMC1443470 |
Congenital protein C deficiency and thrombotic disease in nine French families. M H Horellou, J Conard, R M Bertina, and M Samama Abstract Investigation of 118 patients for protein C deficiency using an immunological and a functional assay, and subsequent investigation of those (nine) found to be deficient, identified 22 patients (14 women, eight men) with protein C deficiency, of whom six were asymptomatic, 15 had histories of venous thromboembolism, and one had a history of arterial thromboembolism. Protein C deficiency was associated in the nine probands with young age at first episode of thromboembolic disease (mean 24.1 (SD 11.9) years), absence of a precipitating condition (five (56%], and a family history of thromboembolic disease (six (66%]. Investigation of the nine families suggested autosomal dominant transmission of the defect. Thromboembolic episodes were seen in patients with protein C antigen concentrations below 0.6 U/ml. Mean (SD) protein C antigen concentrations were 0.48 (0.12) U/ml in 18 patients not receiving oral anticoagulant treatment and 0.28 (0.05) U/ml in four receiving such treatment. One patient with severe protein C deficiency (0.16 U/ml) developed skin necrosis soon after starting oral anticoagulant treatment. Full text Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (648K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References. These references are in PubMed. This may not be the complete list of references from this article. - Bertina RM, Broekmans AW, van der Linden IK, Mertens K. Protein C deficiency in a Dutch family with thrombotic disease. Thromb Haemost. 1982 Aug 24;48(1):1–5. [PubMed]
- Broekmans AW, Veltkamp JJ, Bertina RM. Congenital protein C deficiency and venous thromboembolism. A study of three Dutch families. N Engl J Med. 1983 Aug 11;309(6):340–344. [PubMed]
- Griffin JH, Evatt B, Zimmerman TS, Kleiss AJ, Wideman C. Deficiency of protein C in congenital thrombotic disease. J Clin Invest. 1981 Nov;68(5):1370–1373. [PubMed]
- Horellou MH, Conard J, Bertina RM, Samama M. Thromboses veineuses associées à un déficit constitutionnel en protéine C. 3 observations. Presse Med. 1983 Oct 15;12(36):2259. [PubMed]
- Pabinger-Fasching I, Bertina RM, Lechner K, Niessner H, Korninger C. Protein C deficiency in two Austrian families. Thromb Haemost. 1983 Dec 30;50(4):810–813. [PubMed]
- McCulloch EA. Stem cells in normal and leukemic hemopoiesis (Henry Stratton Lecture, 1982). Blood. 1983 Jul;62(1):1–13. [PubMed]
- Bertina RM, Broekmans AW, Krommenhoek-van Es C, van Wijngaarden A. The use of a functional and immunologic assay for plasma protein C in the study of the heterogeneity of congenital protein C deficiency. Thromb Haemost. 1984 Feb 28;51(1):1–5. [PubMed]
- Conard J, Veuillet-Duval A, Horellou MH, Samama M. Etude de la coagulation et de la fibrinolyse dans 131 cas de thromboses veineuses récidivantes. Nouv Rev Fr Hematol. 1982;24(3):205–209. [PubMed]
- Seligsohn U, Berger A, Abend M, Rubin L, Attias D, Zivelin A, Rapaport SI. Homozygous protein C deficiency manifested by massive venous thrombosis in the newborn. N Engl J Med. 1984 Mar 1;310(9):559–562. [PubMed]
- Branson HE, Katz J, Marble R, Griffin JH. Inherited protein C deficiency and coumarin-responsive chronic relapsing purpura fulminans in a newborn infant. Lancet. 1983 Nov 19;2(8360):1165–1168. [PubMed]
- Broekmans AW, Bertina RM, Loeliger EA, Hofmann V, Klingemann HG. Protein C and the development of skin necrosis during anticoagulant therapy. Thromb Haemost. 1983 Jun 28;49(3):251. [PubMed]
- Samama M, Horellou MH, Soria J, Conard J, Nicolas G. Successful progressive anticoagulation in a severe protein C deficiency and previous skin necrosis at the initiation of oral anticoagulant treatment. Thromb Haemost. 1984 Feb 28;51(1):132–133. [PubMed]
|
This article has been