Portal-Splenic-Mesenteric Venous Thrombosis in a Patients with Protein S Deficiency due to Novel PROS1 Gene Mutation

Eui Tae Hwang; Won Sik Kang; Jin Woo Park; Ji Hyun Lee; Hyun Jeong Han; Sang Yong Shin; Hee Jin Kim; Ja Sung Choi

doi:10.4166/kjg.2014.64.2.110

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Hwang, Kang, Park, Lee, Han, Shin, Kim, and Choi: Portal-Splenic-Mesenteric Venous Thrombosis in a Patients with Protein S Deficiency due to Novel PROS1 Gene Mutation

Case Report

Korean J Gastroenterol 2014;64(2):110-114.

Published online: 4 October 2014

DOI: https://doi.org/10.4166/kjg.2014.64.2.110

Portal-Splenic-Mesenteric Venous Thrombosis in a Patients with Protein S Deficiency due to Novel PROS1 Gene Mutation

Eui Tae Hwang, Won Sik Kang, Jin Woo Park, Ji Hyun Lee, Hyun Jeong Han, Sang Yong Shin¹, Hee Jin Kim¹, Ja Sung Choi

Division of Gastroenterology, Department of Internal Medicine, Myongji Hospital, Goyang, Korea

¹Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

Correspondence to: Ja Sung Choi, Division of Gastroenterology, Department of Internal Medicine, Myongji Hospital, 55 Hwasu-ro 14beon-gil, Deogyang-gu, Goyang 412-826, Korea. Tel: +82-31-969-0500, Fax: +82-31-810-5160, E-mail: cjs0123@hanmail.net

Received 16 November 2013 Revised 5 February 2014 Accepted 8 February 2014

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Protein S (PS), a vitamin K-dependent glycoprotein, performs an important role in the anticoagulation cascade as a cofactor of protein C. Because of the presence of a pseudogene and two different forms of PS in the plasma, protein S deficiency (PSD) is one of the most difficult thrombophilias to study and a rare blood disorder associated with an increased risk of thrombosis. We describe a unusual case of previously healthy 37-year-old man diagnosed with portal-splenic-mesenteric vein thrombosis secondary to PSD. The patient was admitted to the hospital due to continuous nonspecific abdominal pain and nausea. Abdominal computed tomography revealed acute venous thrombosis from inferior mesenteric vein to left portal vein via splenic vein, and laboratory test revealed decreased PS antigen level and PS functional activity. Conventional polymerase chain reaction and direct DNA sequencing analysis of the PROS1 gene demonstrated duplication of the 166th base in exon 2 resulting in frame-shift mutation (p.Arg56Lysfs*10) which is the first description of the new PROS1 gene mutation to our knowledge. Results from other studies suggest that the inherited PSD due to a PROS1 gene mutation may cause venous thrombosis in a healthy young man without any known predisposing factor.

Keywords: Protein S deficiency, Venous thrombosis, Blood coagulation disorders

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Fig. 1.

Initial abdominal CT scan. (A, B) Massive thrombus and peripheral wall enhancement are noted at left portal vein, suggestive of recent thrombi. Left hepatic parenchymal attenuation was different from the right one. (C) Splenic and inferior mesenteric vein (arrow) are also filled with thrombus and mild dilated.

Fig. 2.

Direct DNA sequencing analysis of the PROS1 gene. Duplication of the 166th base (A, arrow) in exon 2 resulted in frame-shift mutation (p.Arg56Lysfs*10) which is a novel variation.

Fig. 3.

Abdominal CT scan 1 year after anticoagulation therapy. (A, B) Left hepatic parenchymal atrophy and severely narrow portal vein with residual thrombus (arrow) are seen. (C) Splenic and inferior mesenteric venous thrombosis have disappeared completely (arrow).

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