Protein C Gene Mutation in an Older Adult Patient with Clostridium perfringens Septicemia-Related Visceral Vein ThrombosisFunding None.
A 78-year-old Japanese male with Clostridium perfringens septicemia and cholecystitis was found to have thrombosis in the left branch of intrahepatic portal vein as well as superior mesenteric vein. Visceral vein thrombosis (VVT) in this case was associated with protein C deficiency, due to a heterozygous mutation, p. Arg185Met. Our experience emphasizes that VVT, or other thromboembolic events, may occur in later life, triggered by environmental thrombosis risk factors, together with underlying hereditary protein C gene mutation.
Keywordsvisceral vein thrombosis - protein C deficiency - Clostridium perfringens - septicemia - older adult
Policy and Ethics
The work was performed in accordance with the Declaration of Helsinki with approval by the Institutional Ethics Committee.
Eingereicht: 20. Januar 2021
Angenommen: 23. Februar 2021
26. Mai 2021 (online)
© 2021. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)
Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany
- 1 Dinarvand P, Moser KA. Protein C deficiency. Arch Pathol Lab Med 2019; 143 (10) 1281-1285
- 2 Makoto I, Usui M, Wada H. et al. Congenital thrombophilia in patients with superior mesenteric venous thrombosis or portal vein thrombosis. Clin Appl Thromb Hemost 2018; 24 (07) 1117-1121
- 3 Millar DS, Johansen B, Berntorp E. et al. Molecular genetic analysis of severe protein C deficiency. Hum Genet 2000; 106 (06) 646-653
- 4 Faccia M, Ainora ME, Ponziani FR. et al. Portal vein thrombosis in cirrhosis: why a well-known complication is still matter of debate. World J Gastroenterol 2019; 25 (31) 4437-4451
- 5 Rodríguez-Leal GA, Morán S, Corona-Cedillo R, Brom-Valladares R. Portal vein thrombosis with protein C-S deficiency in a non-cirrhotic patient. World J Hepatol 2014; 6 (07) 532-537
- 6 Schweigart JH, Klotsas A, Schelenz S, Dhatariya K. Portal vein thrombosis despite anticoagulation in a person with diabetes. J R Soc Med 2005; 98 (04) 161-163
- 7 Shin DH, Park JH, Yoon KW, Shin JH, Kim SJ. Clostridium perfringens septicemia with thrombophlebitis of the portal vein. J Infect 2003; 46 (04) 253-255
- 8 Reitsma PH, Bernardi F, Doig RG. et al. Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH. Thromb Haemost 1995; 73 (05) 876-889
- 9 Miyata T, Kato H, Sakata T. et al. Congenital thrombophilia caused by protein C deficiency [in Japanese]. Rinsho Byori 2000; 48 (04) 285-292
- 10 Inoue H, Terachi SI, Uchiumi T. et al. The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene. Pediatr Blood Cancer 2017; 64 (07) e26404
- 11 Miyata T, Sakata T, Yasumuro Y. et al. Genetic analysis of protein C deficiency in nineteen Japanese families: five recurrent defects can explain half of the deficiencies. Thromb Res 1998; 92 (04) 181-187
- 12 Ueda K, Morishita E, Shiraki H, Matsuoka S, Imashuku S. Aortic mural thrombus associated with congenital protein C deficiency in an elderly patient. J Atheroscler Thromb 2020; 27 (01) 100-103