Budd-Chiari Syndrome with Multiple Thrombi due to a Familial Arg42Ser Mutation in the Protein C Gene. (24th October 2013)

• Record Type: Journal Article
• Authors: Muratsu, Jun; Morishima, Atsuyuki; Mizoguchi, Kazuhiro; Ataka, Keiji; Yamamoto, Hiroshi; Fan, Xinping; Miyata, Toshiyuki; Sakaguchi, Katsuhiko
• Other Names: Sugawara Yasuhiko Academic Editor.
• Is Part Of: Case reports in medicine. Volume 2013(2013)
• Publication Date: 2013-10-24
• Subjects: Medicine -- Periodicals; Medicine -- Periodicals; Medicine; Case Reports; Periodicals; 610
• DOI: 10.1155/2013/270419
• Languages: English
• ISSNs: 1687-9627

Abstract

Abstract : A 34-year-old Japanese woman was admitted to our hospital complaining of developing bilateral pedal edema. Imaging studies led to a diagnosis of Budd-Chiari syndrome combined with internal jugular vein thrombus. We investigated the cause of thrombosis and found that the anticoagulant activity of protein C was decreased. Genetic analysis showed the presence of a c.125C>A (Arg42Ser) substitution in the protein C gene ( PROC ) of the proband, which generates an Arg42Ser mutation that replaces the scissile bond Arg42-Ala43 normally cleaved by a furin-like processing protease. Her father and younger brother also carried this mutation, although they had no evidence of thrombosis.