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

• Hwang ET
• Kang WS
• Park JW
• Lee JH
• Han HJ
• Shin SY
• Kim HJ
• Choi JS

• KMID: 2164422
• DOI: http://doi.org/10.4166/kjg.2014.64.2.110

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.

Keyword

Protein S deficiency; Venous thrombosis; Blood coagulation disorders

MeSH Terms

Adult
Anticoagulants/therapeutic use
Base Sequence
Blood Proteins/*genetics
Codon, Terminator
Exons
Humans
Male
Mesenteric Veins/radiography
Polymorphism, Restriction Fragment Length
Portal Vein/radiography
Protein S Deficiency/complications/*diagnosis
Sequence Analysis, DNA
Splenic Vein/radiography
Tomography, X-Ray Computed
Venous Thrombosis/*diagnosis/drug therapy/etiology
Anticoagulants
Blood Proteins
Codon, Terminator

Figure

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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.

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  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.

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  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).

Reference

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