A family study of asymptomatic small bowel Crohn's disease

Dig Liver Dis. 2014 Mar;46(3):276-8. doi: 10.1016/j.dld.2013.11.003. Epub 2013 Dec 17.


Background: Discrepancies between severity of lesions and symptoms may be observed in Crohn's disease. We prospectively assessed whether Crohn's disease may be diagnosed among asymptomatic relatives of patients, using Small Bowel Contrast Ultrasonography.

Methods: Diagnosis of asymptomatic Crohn's disease relatives was defined ultrasonographically as: bowel wall thickness >3mm, bowel dilation/stricture, lumen diameter >2.5 cm. Diagnosis was confirmed by ileocolonoscopy. Subjects were also screened for the Leu3020insC mutation.

Results: Consent was given by 35 asymptomatic first-degree relatives of 18 Crohn's disease patients. Ultrasonography indicated increased bowel wall thickness (5mm) compatible with ileal Crohn's disease in 1 relative (2.8%), a 42 year-old male. Ileocolonoscopy, histology, and radiology confirmed the diagnosis of stricturing ileal Crohn's disease. Gallbladder stones were detected in 7/35 (20%) relatives and Leu3020insC mutation in 3/35 (8.5%).

Conclusions: Small Bowel Contrast Ultrasonography may be a useful tool to diagnose asymptomatic small bowel Crohn's disease among first-degree relatives of patients.

Keywords: Asymptomatic CD; Crohn's disease (CD); Family study; Small Intestine Contrast Ultrasonography (SICUS).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Asymptomatic Diseases*
  • Colonoscopy*
  • Contrast Media
  • Crohn Disease / diagnosis*
  • Crohn Disease / diagnostic imaging
  • Crohn Disease / genetics
  • Endoscopy, Gastrointestinal
  • Family*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Ileitis / diagnosis*
  • Ileitis / diagnostic imaging
  • Ileitis / genetics
  • Intestine, Small / diagnostic imaging*
  • Longitudinal Studies
  • Male
  • Middle Aged
  • Nod2 Signaling Adaptor Protein / genetics
  • Prospective Studies
  • Severity of Illness Index
  • Ultrasonography
  • Young Adult


  • Contrast Media
  • NOD2 protein, human
  • Nod2 Signaling Adaptor Protein