Familial and sporadic inflammatory bowel disease: comparison of clinical features and serological markers in a genetically homogeneous population

Scand J Gastroenterol. 2002 Jun;37(6):692-8. doi: 10.1080/00365520212511.


Background: The familial occurrence of inflammatory bowel disease (IBD) and the clinical features of familial and sporadic IBD in the genetically homogeneous Finnish population are evaluated.

Methods: 257 patients with Crohn disease (CD) and 436 with ulcerative colitis (UC) participated in the study. They were asked whether IBD was present (familial IBD) or absent (sporadic IBD) in their first-degree relatives. Data on the clinical course of the disease were collected from the patient records. Antibodies to Saccharomyces cerevisiae (ASCA) and anti-neutrophil cytoplasmic antibodies (ANCA) were determined from serum samples.

Results: Affected first-degree relatives were found in 15.6% of patients with CD and in 13.8% of patients with UC. In familial cases CD was more often located in the ileum (38% versus 21%) and less often in the ileocolon (35% versus 50%) (P< 0.05) than in sporadic cases. A greater percentage of CD patients than UC patients were smokers (47% versus 13%; P < 0.01). An elevated level of IgA and/or IgG antibodies for ASCA was found more often in CD patients than in UC patients (59% versus 14%; P < 0.01), while pANCA were found more often in UC than in CD patients (48% versus 12%; P < 0.01). The combination of pANCA-ASCA+ yielded a sensitivity, specificity and positive predictive value of 48%, 92% and 90%, respectively, for CD, and the combination of pANCA + ASCA- of 55%, 94% and 90%, respectively, for UC.

Conclusions: The percentage of familial IBD cases in Finland is comparable to that reported elsewhere in Europe. No important clinical differences between patients with familial and sporadic forms of the disease were found. ASCA is associated with both familial and sporadic CD and pANCA with UC, but low sensitivity diminishes their value as a serological marker of IBD or as a differential diagnostic test between CD and UC.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age Distribution
  • Aged
  • Antibodies, Antineutrophil Cytoplasmic / analysis*
  • Biomarkers / analysis
  • Child
  • Cohort Studies
  • Colitis, Ulcerative / diagnosis
  • Colitis, Ulcerative / epidemiology
  • Colitis, Ulcerative / genetics
  • Crohn Disease / diagnosis
  • Crohn Disease / epidemiology
  • Crohn Disease / genetics
  • Enzyme-Linked Immunosorbent Assay
  • Female
  • Finland / epidemiology
  • Humans
  • Incidence
  • Inflammatory Bowel Diseases / diagnosis
  • Inflammatory Bowel Diseases / epidemiology*
  • Inflammatory Bowel Diseases / genetics*
  • Male
  • Middle Aged
  • Predictive Value of Tests
  • Probability
  • Prognosis
  • Risk Assessment
  • Sex Distribution


  • Antibodies, Antineutrophil Cytoplasmic
  • Biomarkers