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Inflammatory bowel disease 1(IBD1)

MedGen UID:
943107
Concept ID:
CN260071
Disease or Syndrome
Synonyms: IBD1; INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1; Inflammatory bowel disease 1, Crohn disease
 
Genes (locations): IL6 (7p15.3); NOD2 (16q12.1)
 
Monarch Initiative: MONDO:0009960
OMIM®: 266600

Definition

Crohn's disease is a complex, long-lasting (chronic) disorder that primarily affects the digestive system. This condition involves an abnormal immune response that causes excess inflammation. It most often affects the intestinal walls, particularly in the lower part of the small intestine (the ileum) and portions of the large intestine (the colon). However, inflammation can occur in any part of the digestive system, from the mouth to the anus. The inflamed tissues become thick and swollen, and the inner surfaces of the digestive system may develop open sores (ulcers).

Crohn's disease most commonly appears in a person's late teens or twenties, although the disease can begin at any age. Signs and symptoms tend to flare up multiple times throughout life. The most common features of this condition are persistent diarrhea, abdominal pain and cramping, loss of appetite, weight loss, and fever. Some people with Crohn's disease have blood in the stool from inflamed tissues in the intestine; over time, chronic bleeding can lead to a low number of red blood cells (anemia). In some cases, Crohn's disease can also cause inflammation affecting the joints, eyes, or skin.

Intestinal blockage is a common complication of Crohn's disease. Blockages are caused by swelling or a buildup of scar tissue in the intestinal walls. Some affected individuals also develop fistulae, which are abnormal connections between the intestine and other tissues. Fistulae occur when ulcers break through the intestinal wall and passages form between loops of the intestine or between the intestine and nearby structures (such as the bladder, vagina, or skin).

Crohn's disease is one common form of inflammatory bowel disease (IBD). Another type of IBD, ulcerative colitis, also causes chronic inflammation of the intestinal lining. Unlike Crohn's disease, which can affect any part of the digestive system, ulcerative colitis typically causes inflammation only in the colon. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Drug Ther Bull 2016 Sep;54(9):102-5. Epub 2016 Sep 1 doi: 10.1136/dtb.2016.9.0423. PMID: 27585997
Soncini M, Triossi O, Leo P, Magni G, Giglio LA, Mosca PG, Bertelè AM, Pompeo F, Pietrini L, Muratori R, Marone GP, Belfiori V, Sciampa G, Tanzilli A, Azzola E, Ferraris L, Grasso T, Caruso S, Bonecco S, Casanova B, Brambilla G, Frulloni L, D'Offizi V
Digestion 2006;73(1):1-8. Epub 2005 Dec 1 doi: 10.1159/000090036. PMID: 16327269
Bizer LS, Liebling RW, Delany HM, Gliedman ML
Surgery 1981 Apr;89(4):407-13. PMID: 7209787

Recent clinical studies

Etiology

Matsuzawa-Ishimoto Y, Yao X, Koide A, Ueberheide BM, Axelrad JE, Reis BS, Parsa R, Neil JA, Devlin JC, Rudensky E, Dewan MZ, Cammer M, Blumberg RS, Ding Y, Ruggles KV, Mucida D, Koide S, Cadwell K
Nature 2022 Oct;610(7932):547-554. Epub 2022 Oct 5 doi: 10.1038/s41586-022-05259-y. PMID: 36198790Free PMC Article
Thakkar RG, Kanwar A, Singh A, Hawche G, Talbot D, Wilson C, Manas DM, White SA
Exp Clin Transplant 2019 Dec;17(6):792-795. Epub 2019 Oct 1 doi: 10.6002/ect.2019.0186. PMID: 31580234
Singh H, Balouch F, Noble C, Lewindon P
J Pediatr Gastroenterol Nutr 2018 Jul;67(1):80-85. doi: 10.1097/MPG.0000000000001927. PMID: 29470284
Shoughy SS, Kozak I, Tabbara KF
Ophthalmic Epidemiol 2016;23(1):27-31. Epub 2016 Jan 20 doi: 10.3109/09286586.2015.1119286. PMID: 26786193
Baser O, Liu X, Phatak H, Wang L, Mardekian J, Kawabata H, Petersel D, Hamilton M, Ramacciotti E
Am J Ther 2013 Mar-Apr;20(2):132-42. doi: 10.1097/MJT.0b013e31826910dd. PMID: 23466619

Diagnosis

Koller T, Galambosova M, Filakovska S, Kubincova M, Hlavaty T, Toth J, Krajcovicova A, Payer J
World J Gastroenterol 2017 Jun 14;23(22):4102-4111. doi: 10.3748/wjg.v23.i22.4102. PMID: 28652663Free PMC Article
Drug Ther Bull 2016 Sep;54(9):102-5. Epub 2016 Sep 1 doi: 10.1136/dtb.2016.9.0423. PMID: 27585997
Rossen NG, MacDonald JK, de Vries EM, D'Haens GR, de Vos WM, Zoetendal EG, Ponsioen CY
World J Gastroenterol 2015 May 7;21(17):5359-71. doi: 10.3748/wjg.v21.i17.5359. PMID: 25954111Free PMC Article
Soler-Palacín P, Margareto C, Llobet P, Asensio O, Hernández M, Caragol I, Español T
Allergol Immunopathol (Madr) 2007 May-Jun;35(3):83-9. doi: 10.1157/13106774. PMID: 17594870
Moses PL, Moore BR, Ferrentino N, Bensen SP, Vecchio JA
Postgrad Med 1998 May;103(5):77-84. doi: 10.3810/pgm.1998.05.483. PMID: 9590987

Therapy

Baraliakos X, Deodhar A, Dougados M, Gensler LS, Molto A, Ramiro S, Kivitz AJ, Poddubnyy D, Oortgiesen M, Vaux T, Fleurinck C, Shepherd-Smith J, de la Loge C, de Peyrecave N, van der Heijde D
Arthritis Rheumatol 2022 Dec;74(12):1943-1958. Epub 2022 Nov 7 doi: 10.1002/art.42282. PMID: 35829672
Thakkar RG, Kanwar A, Singh A, Hawche G, Talbot D, Wilson C, Manas DM, White SA
Exp Clin Transplant 2019 Dec;17(6):792-795. Epub 2019 Oct 1 doi: 10.6002/ect.2019.0186. PMID: 31580234
Koller T, Galambosova M, Filakovska S, Kubincova M, Hlavaty T, Toth J, Krajcovicova A, Payer J
World J Gastroenterol 2017 Jun 14;23(22):4102-4111. doi: 10.3748/wjg.v23.i22.4102. PMID: 28652663Free PMC Article
Rossen NG, MacDonald JK, de Vries EM, D'Haens GR, de Vos WM, Zoetendal EG, Ponsioen CY
World J Gastroenterol 2015 May 7;21(17):5359-71. doi: 10.3748/wjg.v21.i17.5359. PMID: 25954111Free PMC Article
Baser O, Liu X, Phatak H, Wang L, Mardekian J, Kawabata H, Petersel D, Hamilton M, Ramacciotti E
Am J Ther 2013 Mar-Apr;20(2):132-42. doi: 10.1097/MJT.0b013e31826910dd. PMID: 23466619

Prognosis

Samuelsson J, Bertilsson R, Bülow E, Carlsson S, Åkesson S, Eliasson B, Hanas R, Åkesson K
Diabetologia 2024 Apr;67(4):679-689. Epub 2024 Jan 22 doi: 10.1007/s00125-024-06086-8. PMID: 38252314Free PMC Article
Stone H, Pye A, Stockley RA
Respir Med 2014 Feb;108(2):338-43. Epub 2013 Oct 14 doi: 10.1016/j.rmed.2013.10.006. PMID: 24176989
Baser O, Liu X, Phatak H, Wang L, Mardekian J, Kawabata H, Petersel D, Hamilton M, Ramacciotti E
Am J Ther 2013 Mar-Apr;20(2):132-42. doi: 10.1097/MJT.0b013e31826910dd. PMID: 23466619
Soler-Palacín P, Margareto C, Llobet P, Asensio O, Hernández M, Caragol I, Español T
Allergol Immunopathol (Madr) 2007 May-Jun;35(3):83-9. doi: 10.1157/13106774. PMID: 17594870
Moses PL, Moore BR, Ferrentino N, Bensen SP, Vecchio JA
Postgrad Med 1998 May;103(5):77-84. doi: 10.3810/pgm.1998.05.483. PMID: 9590987

Clinical prediction guides

Baraliakos X, Deodhar A, Dougados M, Gensler LS, Molto A, Ramiro S, Kivitz AJ, Poddubnyy D, Oortgiesen M, Vaux T, Fleurinck C, Shepherd-Smith J, de la Loge C, de Peyrecave N, van der Heijde D
Arthritis Rheumatol 2022 Dec;74(12):1943-1958. Epub 2022 Nov 7 doi: 10.1002/art.42282. PMID: 35829672
Hanew K, Tanaka T, Horikawa R, Hasegawa T, Yokoya S
Endocr J 2018 May 28;65(5):509-519. Epub 2018 Mar 7 doi: 10.1507/endocrj.EJ17-0401. PMID: 29515055
Koller T, Galambosova M, Filakovska S, Kubincova M, Hlavaty T, Toth J, Krajcovicova A, Payer J
World J Gastroenterol 2017 Jun 14;23(22):4102-4111. doi: 10.3748/wjg.v23.i22.4102. PMID: 28652663Free PMC Article
Rossen NG, MacDonald JK, de Vries EM, D'Haens GR, de Vos WM, Zoetendal EG, Ponsioen CY
World J Gastroenterol 2015 May 7;21(17):5359-71. doi: 10.3748/wjg.v21.i17.5359. PMID: 25954111Free PMC Article
Stone H, Pye A, Stockley RA
Respir Med 2014 Feb;108(2):338-43. Epub 2013 Oct 14 doi: 10.1016/j.rmed.2013.10.006. PMID: 24176989

Recent systematic reviews

Rossen NG, MacDonald JK, de Vries EM, D'Haens GR, de Vos WM, Zoetendal EG, Ponsioen CY
World J Gastroenterol 2015 May 7;21(17):5359-71. doi: 10.3748/wjg.v21.i17.5359. PMID: 25954111Free PMC Article

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