FaCD Online Syndrome Fact Sheet

Last updated: 05 Mar 2010

Name: Chronic Inflammatory Bowel Disease

Synonym: incl. Chronic Ulcerative Colitis, Crohn's disease

Mode of Inheritance: multifact?/ AD?

OMIM number: 266600  

Tumor features

colorectal cancer
leukemia, acute myeloid (AML, incl. ANLL)
leukemia, chronic myeloid (CML)
lymphoma, malignant (Non-Hodgkin and/or Hodgkin)
small intestinal cancer

Tumor features (possible)

cervical cancer

Non-tumor features



Nuako et al.[1] compared the colorectal cancer incidence in first-degree relatives of chronic ulcerative colitis (UC) patients with or without a personal history of colorectal cancer. They concluded that colorectal cancer in UC patients represents a risk factor for colorectal cancer in their non-colitic relatives. Also, a family history of colorectal cancer increases colorectal cancer risk in UC patients (relative risk 2.3). Riegler et al.[2] did not observe an increased cancer risk, colorectal or other type, in the first, second and third-degree relatives of ulcerative colitis, or Crohn disease, patients. Eaden et al.[3] calculated an increased risk (RR 5, P<0.04)) for UC patients to develop colorectal cancer if they had a single case of colorectal cancer in their family. However, if limited to first-degree family history only, risk increase was not statistically significant. Interestingly, UC associated cancer risk appears to decline over time in successive generations[4].

In patients with Crohn's disease, the risk of small bowel adenocarcinoma is 20-40 times higher than the general population risk[12]. There may be a therapy-related and possibly therapy unrelated increased risk to develop lymphomas in UC patients[5]. Myeloid leukemia risk appears to be increased[6]. Intestinal lymphomas can arise in the chronically inflamed segments in patients with inflammatory bowel disease[7]. IBD patients treated with thiopurines have an excess risk of nonintestinal lymphomas and these lymphomas show pathological features of lymphomas associated with immunosuppression[7,8]. Women receiving immunosuppressive therapy are at increased risk for developing uterine cervix dysplasia and posssibly for developing cervical cancer[7]. In contrast, another study concluded that women with IBD are not at increased risk of abnormal cervical smears unless they smoke and that the use of immunosuppressant therapy had no impact on rates of cervical dysplasia or cancer[9].


[1] Nuako KW, Ahlquist DA, Mahoney DW, Schaid DJ, Siems DM, Lindor NM. Familial predisposition for colorectal cancer in chronic ulcerative colitis: A case-control study. GASTROENTEROLOGY 115[5], 1079-1083. 1998.
[2] Riegler G, Carratu R, Tartaglione M, Morace F, Manzione R, Arimoli A. Prevalence and relative risk of malignancy in relatives of inflammatory bowel disease patients and control subjects. J Clin Gastroenterol 27[3], 211-214. 1998.
[3] Eaden J, Abrams K, Ekbom A, Jackson E, Mayberry J. Colorectal cancer prevention in ulcerative colitis: a case- control study. Aliment Pharmacol Ther 2000; 14(2):145-153.
[4] Loftus EV. Epidemiology and risk factors for colorectal dysplasia and cancer in ulcerative colitis. Gastroenterology clinics of North America 2006; 35(3):517-31.
[5] Jones JL, Loftus EV. Lymphoma risk in inflammatory bowel disease: is it the disease or its treatment?. Inflammatory bowel diseases 2007; 13(10):1299-307.
[6] Askling J, Brandt L, Lapidus A, Karlén P, Björkholm M, Löfberg R, Ekbom A. Risk of haematopoietic cancer in patients with inflammatory bowel disease. Gut 2005; 54(5):617-22.
[7] Beaugerie L, Sokol H, Seksik P. Noncolorectal malignancies in inflammatory bowel disease: more than meets the eye.Dig Dis. 2009;27(3):375-81.
[8] Beaugerie L, Brousse N, Bouvier AM, Colombel JF, Lémann M, Cosnes J, Hébuterne X, Cortot A, Bouhnik Y, Gendre JP, Simon T, Maynadié M, Hermine O, Faivre J, Carrat F; CESAME Study Group. Lymphoproliferative disorders in patients receiving thiopurines for inflammatory bowel disease: a prospective observational cohort study. Lancet. 2009 Nov 7;374(9701):1617-25.
[9] Lees CW, Critchley J, Chee N, Beez T, Gailer RE, Williams AR, Shand AG, Arnott ID, Satsangi J.Lack of association between cervical dysplasia and IBD: a large case-control study. Inflamm Bowel Dis. 2009 Nov;15(11):1621-9.