Mesenteric vein thrombosis in a patient heterozygous for factor V Leiden and G20210A prothrombin genotypes (original) (raw)
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Journal of medical case reports, 2015
Bleeding ectopic small bowel varices pose a clinical dilemma for the physician, given their diagnostic obscurity and the lack of evidence-based medicine to guide therapy. They often occur in the context of portal hypertension, secondary to either liver disease or extrahepatic causes. Rarely is their presence associated with chronic superior mesenteric vein thrombosis and hereditary coagulopathies. A 74-year-old white woman, with a heterozygous Factor V Leiden mutation and no underlying liver disease or portal hypertension, presented over the course of 13 months for recurrent episodes of melena and per rectal bleeding. An initial endoscopy showed a clean-based chronic gastric ulcer, while colonoscopies showed multiple, non-bleeding angioectasias which were treated with argon plasma coagulation. Subsequent video capsule endoscopy and double balloon enteroscopy revealed red wale marks overlying engorged submucosal veins in her distal ileum, consistent with ectopic varices. A chronic su...
Right colonic ischemia due to factor V Leiden mutation: Report of a case
Annals of Gastroenterology
The protein C anticoagulant pathway is an important downregulating mechanism of the blood coagulation cascade. Resistance to activated protein C (APCR) due to factor V Leiden mutation is now recognized as the single most common cause of hereditary thrombophilia. We report a 73-yrold male with right colonic ischemia probably from occlusion of small branches of the superior mesenteric artery. Hemostasis laboratory analysis was normal except for the resistance to activated protein C. Genetic testing revealed that the patient was heterozygous for the factor V Leiden mutation. APCR caused by factor V Leiden mutation should be considered a possible etiological factor of ischemic colitis. In a review of the associated literature, we found only one case of ischemic colitis and two cases of ischemia of the small intestine attributed to factor V Leiden mutation.
Genetics in medicine : official journal of the American College of Medical Genetics, 2011
The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group found adequate evidence to recommend against routine testing for Factor V Leiden (FVL) and/or prothrombin 20210G>A (PT) in the following circumstances: (1) adults with idiopathic venous thromboembolism (VTE). In such cases, longer term secondary prophylaxis to avoid recurrence offers similar benefits to patients with and without one or more of these mutations. (2) Asymptomatic adult family members of patients with VTE and an FVL or PT mutation, for the purpose of considering primary prophylactic anticoagulation. Potential benefits are unlikely to exceed potential harms. The overall certainty of these findings was deemed "moderate." The evidence was insufficient to determine whether FVL/PT testing might have clinical utility in some circumstances, such as for identifying FVL homozygosity among asymptomatic family members of adults with idiopathic VTE or counseling patients about the r...
Factor V Leiden and superior mesenteric artery occlusion: A case study
Journal of Perioperative Nursing, 2020
Factor V Leiden (FVL) is an inherited condition that prolongs the clotting process; this subsequently places individuals at a higher risk of developing a thromboembolism 1. This case study will discuss a 41-year-old female who developed a superior mesenteric artery occlusion with subsequent small bowel ischaemia on a background of FVL. The discussion will illustrate the rarity of an arterial occlusion, the risk factors that are associated with an ischaemic small bowel, the implications of inheriting FVL and some of the associated social aspects of an ileostomy.
British Journal of Haematology, 2000
We determined the prevalence of factor V Leiden and of prothrombin G20210A mutations in a cohort of unselected outpatients (n 748) referred for suspected deep vein thrombosis (DVT) and/or pulmonary embolism (PE) and a pooled analysis of similar studies was also performed. Based on the clinical presentation, the prevalence of factor V Leiden was 15´7% in the 83 patients with DVT and 14´1% in the 99 patients with PE compared with 5´3% in patients without DVT and/or PE (control group). The prevalence of the prothrombin G20210A mutation did not differ among the three groups (3´9% for controls, 4´8% for DVT and 3´9% for PE patients). We then divided the 99 patients with PE by separately analysing those with PE but without DVT (n 57) and those with PE and DVT (n 42). Compared with the control group, the prevalence of factor V Leiden was 10´5%, odds ratio (OR) 2´10 [95% confidence interval (95% CI) 0´68±5´45] in patients with primary PE and 19´1%, OR 4´20 (95% CI 1´54±10´30) in patients with DVT and PE. For the prothrombin G20210A mutation, no statistically significant differences were found between the control group and the three other groups. In conclusion, our data and the pooled analysis indicate that patients with primary PE are less often affected by the factor V Leiden mutation. No statistically significant differences were observed between patients and controls for the prothrombin G20210A mutation.
Croatian medical journal, 2001
AIM To determine the prevalences of factor V Leiden and the G20210A mutation in the prothrombin gene (PT20210A) and the frequency of their association in healthy subjects and in patients with venous thromboembolism (VTE). METHOD We studied 160 Croatian patients with at least one episode of VTE and 155 healthy subjects as a control group. Genomic DNA was extracted according to standard procedures and the presence of factor V Leiden and PT20210A were determined by polymerase chain reaction-restriction fragment length polymorphism method. RESULTS The prevalences of factor V Leiden and PT20210A were in VTE patients 21% and 8% respectively, and 4% in controls for both mutations. Additionally, 4 patients were affected by double heterozygous defects, corresponding to a frequency of 3%, whereas none of the controls were double heterozygotes. The coexistence of the PT20210A in heterozygous carriers of factor V Leiden was 15% in VTE group. The results obtained for different subgroups of VTE p...