A Case of Portal Vein Thrombosis in a Patient With Methylenetetrahydrofolate Reductase A1298C Polymorphism

Abstract

Portal vein thrombosis (PVT) is a prothrombotic state caused by blood flow stasis, vascular injury, and/or hypercoagulability, resulting in partial or complete occlusion of the portal vein. PVT is a rare diagnosis, particularly among those without liver disease. Typical risk factors for PVT include cirrhosis, hepatocellular carcinoma, myeloproliferative neoplasms, other malignancies, oral contraceptive use, bowel infections, and inherited hypercoagulable disorders. The goal of this study is to analyze a case of PVT in a patient in which no clear etiology could be identified and to evaluate whether the patient's methylenetetrahydrofolate reductase (MTHFR) polymorphism may have been a risk factor. This is a case of a 44-year-old female with a history of irritable bowel syndrome, hypertension, hyperlipidemia, sleep apnea, gastric bypass surgery, and MTHFR polymorphism who presented to a walk-in clinic with five days of severe abdominal pain associated with diarrhea, nausea, and anorexia. Hypertension and tenderness over the right lower quadrant prompted a referral to the emergency department for evaluation of possible appendicitis. A contrasted computerized tomography (CT) scan of the abdomen and pelvis revealed a normal appendix and acute portal vein thrombosis. She was then admitted for treatment with intravenous (IV) heparin, fluids, and pain management. After an uneventful three-day hospital course, the patient was discharged on rivaroxaban with a plan to continue anticoagulation therapy for six months and follow up with a hematologist, who later confirmed the patient did not have any inherited hypercoagulable disorders.It is unclear whether the patient's MTHFR polymorphism prompted her PVT as existing data on MTHFR's effects are limited and conflicting. One cannot conclude that MTHFR caused a state of hyperhomocysteinemia to prompt hypercoagulability, as this has not been consistently proven in current literature, and the patient's homocysteine levels were not measured at the time of diagnosis. This case illustrates that further research on the various MTHFR polymorphisms and their effects on coagulation, potentially via homocysteinemia, is warranted. Further research on the MTHFR polymorphisms may help determine whether providers should test for MTHFR in the evaluation of thrombotic risk factors and may help optimize the treatment of thrombotic events for affected individuals.

Intestinal obstruction induced by portal vein thrombosis in a female undergoing oral contraceptive therapy: a case report with comprehensive review

“…A 2010 multicenter study suggested an incidence of 0.7 per 100 000 and a prevalence of 3.7 per 100 000 in developed countries, notably rising with cirrhosis or pro-thrombotic disorders. Cases involving individuals without cirrhosis are scarce, underscoring the significance of instances like the one presented 1 , 16 .…”

“…Variceal eradication before anticoagulation is considered. Thrombolytic therapy and surgical interventions are considered in select cases when anticoagulation fails 1 , 2 , 9 .…”

“…Portal vein thrombosis (PVT) is a medical condition marked by the partial or complete obstruction of blood flow in the portal vein, responsible for supplying 75% of the blood flow to the liver due to the presence of a thrombus 1 , 2 . While rare in the general population, its prevalence among cirrhotic patients is significantly higher, ranging from 4.4 to 15.8%, contributing to 5–10% of overall cases of portal hypertension in developed countries and up to one-third in developing countries, where a higher occurrence of infectious complications predisposes individuals to PVT 3 – 5 .…”