Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Experimental and Therapeutic Medicine
Join Editorial Board Propose a Special Issue
Print ISSN: 1792-0981 Online ISSN: 1792-1015
Journal Cover
December-2022 Volume 24 Issue 6

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
December-2022 Volume 24 Issue 6

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML

  • Supplementary Files
    • Supplementary_Data.pdf
Case Report Open Access

Hereditary protein C deficiency with portal vein thrombosis in a Chinese male: A case report

  • Authors:
    • Chun Zou
    • Tingying Li
    • Liu Long
    • Liu Liu
    • Jian Zhu
  • View Affiliations / Copyright

    Affiliations: Department of Gastroenterology, Guizhou Provincial Orthopedics Hospital, Guiyang, Guizhou 550014, P.R. China, Department of Pediatrics, Guiyang Second People Hospital, Guiyang, Guizhou 550014, P.R. China, Department of Endocrinology, Guizhou Provincial Orthopedics Hospital, Guiyang, Guizhou 550014, P.R. China
    Copyright: © Zou et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 751
    |
    Published online on: November 8, 2022
       https://doi.org/10.3892/etm.2022.11688
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

Hereditary protein C deficiency (PCD) is caused by mutation in the PC gene (PROC). The homozygous mutation form of PCD is rare. Furthermore, in Asia, cases of noncirrhotic patients with portal vein thrombosis (PVT) secondary to PCD have been rarely reported. The present study reported the case of a patient with PVT due to hereditary PCD. Of note, the mutation of PROCc.152G>A was observed in the patient of the present study. According to the current literature, there has been no previous report regarding the mutation of this gene in China. The patient suffered abdominal pain for 20 days, which was accompanied by vomiting for 2 days. Multiple ulcers and diverticula in the sigmoid colon, as well as erosive small ulcers throughout the colon, were discovered during a colonoscopy. Abdominal angiography indicated thrombosis of the portal vein and its branches. Furthermore, laboratory parameters indicated a hypercoagulable state with normal PC antigen values but decreased PC activity. The discovery of blood coagulation‑related genes suggested that homozygous mutation in PC resulted in an amino acid missense mutation. Anticoagulants were prescribed after a diagnosis of type II hereditary PCD with PVT was made. After 15 days, the blood coagulation function of the patient was restored to normal and the symptoms were substantially alleviated. Hence, the present study expanded the mutation spectrum of PROC in China and reaffirmed the value of anticoagulant therapy in PCD.
View Figures

Figure 1

Figure 2

View References

1 

Dinarvand P and Moser KA: Protein C deficiency. Arch Pathol Lab Med. 143:1281–1285. 2019.PubMed/NCBI View Article : Google Scholar

2 

Dahlbäck B: The protein C anticoagulant system: Inherited defects as basis for venous thrombosis. Thromb Res. 77:1–43. 1995.PubMed/NCBI View Article : Google Scholar

3 

Kottke-Marchant K and Comp P: Laboratory issues in diagnosing abnormalities of protein C, thrombomodulin, and endothelial cell protein C receptor. Arch Pathol Lab Med. 126:1337–1348. 2002.PubMed/NCBI View Article : Google Scholar

4 

Pescatore SL: Clinical management of protein C deficiency. Expert Opin Pharmacother. 2:431–439. 2001.PubMed/NCBI View Article : Google Scholar

5 

Goldenberg NA and Manco-Johnson MJ: Protein C deficiency. Haemophilia. 14:1214–1221. 2008.PubMed/NCBI View Article : Google Scholar

6 

Gandrille S, Greengard JS, Alhenc-Gelas M, Juhan-Vague I, Abgrall JF, Jude B, Griffin JH and Aiach M: Incidence of activated protein C resistance caused by the ARG 506 GLN mutation in factor V in 113 unrelated symptomatic protein C-deficient patients. The French network on the behalf of INSERM. Blood. 86:219–224. 1995.PubMed/NCBI

7 

Miyata T, Sakata T, Yasumuro Y, Okamura T, Katsumi A, Saito H, Abe T, Shirahata A, Sakai M and Kato H: Genetic analysis of protein C deficiency in nineteen Japanese families: Five recurrent defects can explain half of the deficiencies. Thromb Res. 92:181–187. 1998.PubMed/NCBI View Article : Google Scholar

8 

Reitsma PH, Poort SR, Allaart CF, Briët E and Bertina RM: The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: Heterogeneity and founder effects. Blood. 78:890–894. 1991.PubMed/NCBI

9 

Shen MC, Lin JS and Tsay W: High prevalence of antithrombin III, protein C and protein S deficiency, but no factor V Leiden mutation in venous thrombophilic Chinese patients in Taiwan. Thromb Res. 87:377–385. 1997.PubMed/NCBI View Article : Google Scholar

10 

Ding Q, Shen W, Ye X, Wu Y, Wang X and Wang H: Clinical and genetic features of protein C deficiency in 23 unrelated Chinese patients. Blood Cells Mol Dis. 50:53–58. 2013.PubMed/NCBI View Article : Google Scholar

11 

Faioni EM, Hermida J, Rovida E, Razzari C, Asti D, Zeinali S and Mannucci PM: Type II protein C deficiency: Identification and molecular modelling of two natural mutants with low anticoagulant and normal amidolytic activity. Br J Haematol. 108:265–271. 2000.PubMed/NCBI View Article : Google Scholar

12 

Intagliata NM, Caldwell SH and Tripodi A: Diagnosis, development, and treatment of portal vein thrombosis in patients with and without cirrhosis. Gastroenterology. 156:1582–1599.e1. 2019.PubMed/NCBI View Article : Google Scholar

13 

Momoi A, Komura Y, Kumon I, Tamai M, Tarumi Y, Matsubara J, Miyauchi K, Yamanouchi J and Hato T: Mesenteric venous thrombosis in hereditary protein C deficiency with the mutation at Arg169 (CGG-TGG). Intern Med. 42:110–116. 2003.PubMed/NCBI View Article : Google Scholar

14 

Rodríguez-Leal GA, Morán S, Corona-Cedillo R and Brom-Valladares R: Portal vein thrombosis with protein C-S deficiency in a non-cirrhotic patient. World J Hepatol. 6:532–537. 2014.PubMed/NCBI View Article : Google Scholar

15 

European Association for the Study of the Liver. Electronic address: simpleeasloffice@easloffice.eu. EASL clinical practice guidelines: Vascular diseases of the liver. J Hepatol. 64:179–202. 2016.PubMed/NCBI View Article : Google Scholar

16 

Li P and Qin C: Recurrent cerebellar infarction associated with hereditary heterozygous protein C deficiency in a 35-year-old woman: A case report and genetic study on the pedigree. Exp Ther Med. 16:2677–2681. 2018.PubMed/NCBI View Article : Google Scholar

17 

Majid Z, Tahir F, Ahmed J, Bin Arif T and Haq A: Protein C deficiency as a risk factor for stroke in young adults: A review. Cureus. 12(e7472)2020.PubMed/NCBI View Article : Google Scholar

18 

Zhu H, Liu H and Liu J: Pathogenic variants of PROC gene caused type II activity deficiency in a Chinese family: A case report. Medicine (Baltimore). 100(e25160)2021.PubMed/NCBI View Article : Google Scholar

19 

Lensen RP, Rosendaal FR, Koster T, Allaart CF, de Ronde H, Vandenbroucke JP, Reitsma PH and Bertina RM: Apparent different thrombotic tendency in patients with factor V Leiden and protein C deficiency due to selection of patients. Blood. 88:4205–4208. 1996.PubMed/NCBI

20 

De Stefano V, Mastrangelo S, Schwarz HP, Pola P, Flore R, Bizzi B and Leone G: Replacement therapy with a purified protein C concentrate during initiation of oral anticoagulation in severe protein C congenital deficiency. Thromb Haemost. 70:247–249. 1993.PubMed/NCBI

21 

McGehee WG, Klotz TA, Epstein DJ and Rapaport SI: Coumarin necrosis associated with hereditary protein C deficiency. Ann Intern Med. 101:59–60. 1984.PubMed/NCBI View Article : Google Scholar

22 

Mitani M, Kuwabara Y, Kawamura H, Sato A, Hattori K and Fujii Y: Mesenteric venous thrombosis associated with protein C deficiency. J Gastroenterol. 34:387–389. 1999.PubMed/NCBI View Article : Google Scholar

23 

Yates P, Cumber PM, Sanderson S and Harrison BJ: Mesenteric venous thrombosis due to protein C deficiency. Clin Lab Haematol. 13:137–139. 1991.PubMed/NCBI View Article : Google Scholar

24 

Hsu WF, Tsang YM, Teng CJ and Chung CS: Protein C deficiency related obscure gastrointestinal bleeding treated by enteroscopy and anticoagulant therapy. World J Gastroenterol. 21:1024–1027. 2015.PubMed/NCBI View Article : Google Scholar

25 

Matsushita I, Hanai H, Sato Y, Arai H, Iida T, Hosoda Y, Kaneko E, Yasumi K and Sugimura H: Protein-losing enteropathy caused by mesenteric venous thrombosis with protein C deficiency. J Clin Gastroenterol. 30:94–97. 2000.PubMed/NCBI View Article : Google Scholar

26 

Valla D, Denninger MH, Delvigne JM, Rueff B and Benhamou JP: Portal vein thrombosis with ruptured oesophageal varices as presenting manifestation of hereditary protein C deficiency. Gut. 29:856–859. 1988.PubMed/NCBI View Article : Google Scholar

27 

Yang YY, Chan CC, Wang SS, Chiu CF, Hsu HC, Chiang JH, Tasy SH, Chang FY and Lee SD: Case report: Portal vein thrombosis associated with hereditary protein C deficiency: A report of two cases. J Gastroenterol Hepatol. 14:1119–1123. 1999.PubMed/NCBI View Article : Google Scholar

28 

Orozco H, Guraieb E, Takahashi T, Garcia-Tsao G, Hurtado R, Anaya R, Ruiz-Arguelles G, Hernandez-Ortiz J, Casillas MA and Guevara L: Deficiency of protein C in patients with portal vein thrombosis. Hepatology. 8:1110–1111. 1998.PubMed/NCBI View Article : Google Scholar

29 

Choi BK, Yang SH, Suh KH, Hwang JA, Lee MH, Si WK and Kim JH: A case of portal vein thrombosis by protein C and s deficiency completely recanalized by anticoagulation therapy. Chonnam Med J. 47:185–188. 2011.PubMed/NCBI View Article : Google Scholar

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Zou C, Li T, Long L, Liu L and Zhu J: Hereditary protein C deficiency with portal vein thrombosis in a Chinese male: A case report. Exp Ther Med 24: 751, 2022.
APA
Zou, C., Li, T., Long, L., Liu, L., & Zhu, J. (2022). Hereditary protein C deficiency with portal vein thrombosis in a Chinese male: A case report. Experimental and Therapeutic Medicine, 24, 751. https://doi.org/10.3892/etm.2022.11688
MLA
Zou, C., Li, T., Long, L., Liu, L., Zhu, J."Hereditary protein C deficiency with portal vein thrombosis in a Chinese male: A case report". Experimental and Therapeutic Medicine 24.6 (2022): 751.
Chicago
Zou, C., Li, T., Long, L., Liu, L., Zhu, J."Hereditary protein C deficiency with portal vein thrombosis in a Chinese male: A case report". Experimental and Therapeutic Medicine 24, no. 6 (2022): 751. https://doi.org/10.3892/etm.2022.11688
Copy and paste a formatted citation
x
Spandidos Publications style
Zou C, Li T, Long L, Liu L and Zhu J: Hereditary protein C deficiency with portal vein thrombosis in a Chinese male: A case report. Exp Ther Med 24: 751, 2022.
APA
Zou, C., Li, T., Long, L., Liu, L., & Zhu, J. (2022). Hereditary protein C deficiency with portal vein thrombosis in a Chinese male: A case report. Experimental and Therapeutic Medicine, 24, 751. https://doi.org/10.3892/etm.2022.11688
MLA
Zou, C., Li, T., Long, L., Liu, L., Zhu, J."Hereditary protein C deficiency with portal vein thrombosis in a Chinese male: A case report". Experimental and Therapeutic Medicine 24.6 (2022): 751.
Chicago
Zou, C., Li, T., Long, L., Liu, L., Zhu, J."Hereditary protein C deficiency with portal vein thrombosis in a Chinese male: A case report". Experimental and Therapeutic Medicine 24, no. 6 (2022): 751. https://doi.org/10.3892/etm.2022.11688
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team