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A homozygous protein C deficiency (Lys 192 del) who developed venous thrombosis for the first time at adulthood

2009; Elsevier BV; Volume: 125; Issue: 1 Linguagem: Inglês

10.1016/j.thromres.2009.09.010

1879-2472

Kenji Iijima, Akiyoshi Nakamura, Hitomi Kurokawa, Sanae Monobe, Mayumi Nakagawa,

Venous Thromboembolism Diagnosis and Management

Protein C is the zymogen of a vitamin K-dependent serine protease, which plays an important role in the regulation of the blood coagulation pathways [ 1 Stenflo J. A new vitamin K-dependent protein: Purification from bovine plasma and preliminary characterization. J Biol Chem. 1976; 251: 355-363 Abstract Full Text PDF PubMed Google Scholar , 2 Griffin J.H. Evatt B. Zimmerman T.S. Kleiss A.J. Wideman C. Deficiency of protein C in congenital thrombotic disease. J Clin Invest. 1981; 68: 1370-1373 Crossref PubMed Scopus (976) Google Scholar ]. Protein C is physiologically activated by thrombin binding to its membrane cofactor protein thrombomodulin and protein C receptor at the endothelial cell surface. Activated protein C proteolytically degrades factors Va and VIIIa in the presence of protein S [ [3] Marlar T.A. Kleiss A.J. Griffin J. Mechanism of action of human activated protein C, a thrombin-dependent anticoagulant enzyme. Blood. 1982; 59: 1067-1072 Crossref PubMed Google Scholar ]. Individuals with mutation in the protein C gene tend to have an increased risk of thromboembolism. A considerable number of heterozygous mutants have been reported in patients who develop deep vein thrombosis in the lower extremities or fatal pulmonary embolism during adulthood [ [4] Human Gene Mutation Database http://www.hgmd.cf.ac.uk/ac/all.php Google Scholar ]. Homozygous or compound heterozygous mutant in patients who develop purpura fulminans in the neonatal period is rare [ 5 Seligsohn U. Berger A. Abend M. Rubin L. Attias D. Zivelin A. Rapaport S.I. Homozygous protein C deficiency manifested by massive venous thrombosis in the newborn. N Engl J Med. 1984; 310: 559-562 Crossref PubMed Scopus (349) Google Scholar , 6 Ido M. Ohiwa M. Hayashi T. Nishioka J. Hatada T. Watanabe Y. A compound heterozygous protein C deficiency with a single nucleotide G deletion encoding Gly-381 and an aminoacid substituton of Lys for Gla-26. Thromb Haemost. 1993; 70: 636-641 PubMed Google Scholar ].