Table 1.
Characteristics of familial and sporadic Crohn’s disease in patients and healthy relatives
Familial CD | Sporadic CD |
Patients | |
Younger age at presentation | Onset al the classical peak age for IBD |
Predominantly ileal involvement | Predominantly colonic involvement |
Penetrating/stenosing phenotype | Less frequently complicated |
More frequent extraintestinal manifestations | Less frequent extraintestinal manifestations |
More frequent NOD2/CARD15 mutations | NOD2/CARD15 mutations < 50% of patients |
Higher prevalence of anti-glycan antibodies | NOD2/CARD15 mutations associated with an increased sero-reactivity to microbial antigens |
Impaired intestinal permeability associated with NOD2/CARD15 variants | Impaired intestinal permeability in < 50% of patients |
Environmental factors: Smoking | Environmental factors: Smoking, diet? |
Healthy relatives | |
Genetic concordance of IBD4 locus in families with smokers | No reported genetic concordance |
ASCA trait | Increased sero-reactivity to microbial antigens, also correlating with NOD2/CARD15 genotype |
Abnormal intestinal permeability | Abnormal intestinal permeability in < 40% of relatives |
IBD: Inflammatory bowel disease; NOD2/CARD15: Nucleotide oligomerization domain 2/caspase recruitment domain 15; ASCA: Anti-Saccharomyces antibodies; CD: Crohn’s disease.