Homozygous Factor V Leiden presenting as irreversible chronic colon ischemia resulting from inferior mesenteric vein thrombosis
Tóm tắt
A 42-year-old man presented with 6 months of unexplained left lower quadrant abdominal pain and hematochezia accompanied by weight loss despite extensive evaluations. Stool studies for pathogens were unrevealing, but an abdominal contrast-enhanced computed tomography revealed findings of chronic inferior mesenteric vein thrombosis. Colonoscopy demonstrated ulcerated strictures and gangrene confined to the sigmoid and descending colons, and biopsies confirmed changes of chronic irreversible colon ischemia. A homozygous Factor V Leiden mutation was diagnosed. The patient underwent colectomy and was treated with lifelong anticoagulation. While mesenteric venous thrombosis is a well-recognized cause of colon ischemia in hypercoagulable states, thrombosis of the inferior mesenteric vein is uncommon; when chronic it is rarely clinically apparent. Similarly, while Factor V Leiden mutation is a common hereditary thrombophilia, it uncommonly causes mesenteric venous thrombosis, and homozygotes of the mutation typically present earlier in the fourth decade and with non-mesenteric venous thromboembolism. This case is valuable and adds to the existing literature in describing a rare, clinically atypical, and late index presentation of homozygous Factor V Leiden mutation as chronic inferior mesenteric vein thrombosis yielding irreversible colon ischemia.
Tài liệu tham khảo
Cotter TG, Bledsoe AC, Sweetser S. Colon ischemia: an update for clinicians. Mayo Clin Proc. 2016;91:671–7.
Harnik IG, Brandt LJ. Mesenteric venous thrombosis. Vasc Med. 2010;15:407–18.
Bontempo FA, Hassett AC, Faruki H, et al. The factor V Leiden mutation: spectrum of thrombotic events and laboratory evaluation. J Vasc Surg. 1997;25:271–6.
Rosendaal FR, Koster T, Vandenbroucke JP, et al. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood. 1995;85:1504–8.
Brandt LJ, Feuerstadt P, Longstreth GF, et al. ACG clinical guideline: epidemiology, risk factors, patterns of presentation, diagnosis, and management of colon ischemia. Am J Gastroenterol. 2015;110:18–44.
Feuerstadt P, Brandt LJ. Update on colon ischemia: recent insights and advances. Curr Gastroenterol Rep. 2015;17:45.
Alschibaja T, Morson BC. Ischaemic bowel disease. J Clin Pathol Suppl (R Coll Pathol). 1977;11:68–77.
Walker AM, Bohn RL, Cali C, et al. Risk factors for colon ischemia. Am J Gastroenterol. 2004;99:1333–7.
Kumar S, Sarr MG, Kamath PS. Mesenteric venous thrombosis. N Engl J Med. 2001;345:1683–8.
Vietti Violi N, Fournier N, Duran R, et al. Acute mesenteric vein thrombosis: factors associated with evolution to chronic mesenteric vein thrombosis. AJR Am J Roentgenol. 2014;203:54–61.
Koser T, Rosendaal FR, de Ronde H, et al. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet. 1993;342:1503–6.
Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet. 1995;346:1133–4.
Ridker PM, Hennekens CH, Lindpaintner K, et al. Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. N Engl J Med. 1995;332:912–7.
Koutroubakis IE, Sfiridaki A, Theodoropoulou A, et al. Role of acquired and hereditary thrombotic risk factors in colon ischemia of ambulatory patients. Gastroenterology. 2001;121:561–5.
Chin BW, Greenberg D, Wilson RB, et al. A case of ischemic colitis associated with factor V Leiden mutation: successful treatment with anticoagulation. Gastrointest Endosc. 2007;66:416–8.
Heyn J, Buhmann S, Ladurner R, et al. Recurrent ischemic colitis in a patient with Leiden factor V mutation and systemic lupus erythematous with antiphospholipid syndrome. Eur J Med Res. 2008;13:182–4.
Silverman M, Aroniadis OC, Feuerstadt P, et al. Older patients are significantly more likely to have colon ischaemia-associated conditions that are chronic and complex. Aliment Pharmacol Ther. 2019;49:1502–8.