title: Protein S deficiency with a PROS1 gene mutation in a patient presenting with mesenteric venous thrombosis following total colectomy.
abstract: Protein S deficiency (PSD) is an inherited or acquired disorder associated with an increased risk of thrombosis. We describe the unusual case of a previously healthy 45-year-old man with PSD. The patient was admitted for work-up of hematochezia and was diagnosed with colorectal cancer. Preoperative evaluation was unremarkable, and he subsequently underwent an uneventful laparoscopic total colectomy. The next day, he complained of chest tightness, and a computed tomography enterography revealed acute thrombosis throughout the entire superior mesenteric vein. Further laboratory evaluation revealed decreased free protein S levels. Polymerase chain reaction and direct sequencing of the PROS1 gene revealed a heterozygous transition (NM_000313.3 c.1907A > G), resulting in an amino acid change (p.Tyr636Cys). Although several case reports have described mesenteric venous thrombosis (MVT) in individuals with PSD, most have just reported decreases in the activity or concentration of protein S. We confirmed a nucleotide alteration of PROS1 associated with PSD. This patient, who had hereditary thrombophilia, may have developed MVT after transient exposure to abdominal surgery. We may need to implement more comprehensive coagulation testing prior to surgery considering the prevalence and possible risk of thromboembolic event.
authors.affiliation: Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea.
authors.forename: Misuk
authors.initials: M
authors.lastname: Ji
authors.forename: Sang Nam
authors.initials: SN
authors.lastname: Yoon
authors.forename: Woochang
authors.initials: W
authors.lastname: Lee
authors.forename: Seongsoo
authors.initials: S
authors.lastname: Jang
authors.forename: Seong Ho
authors.initials: SH
authors.lastname: Park
authors.forename: Dae-Yeon
authors.initials: DY
authors.lastname: Kim
authors.forename: Sail
authors.initials: S
authors.lastname: Chun
authors.forename: Won-Ki
authors.initials: WK
authors.lastname: Min
mesh_terms: D000230:Adenocarcinoma / Q000473:pathology / Q000601:surgery*; D001780:Blood Coagulation Tests; D001798:Blood Proteins / Q000235:genetics; D003082:Colectomy / Q000009:adverse effects*; D015179:Colorectal Neoplasms / Q000473:pathology / Q000601:surgery*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008642:Mesenteric Veins / Q000000981:diagnostic imaging / Q000503:physiopathology; D008875:Middle Aged; D017354:Point Mutation; D017293:Protein S / Q000032:analysis*; D018455:Protein S Deficiency / Q000097:blood* / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D011859:Radiography; D019851:Thrombophilia / Q000097:blood* / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D020246:Venous Thrombosis / Q000097:blood* / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics / Q000503:physiopathology
chemical_list: D001798:Blood Proteins; C523390:PROS1 protein, human; D017293:Protein S