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Monogenic IBD

Determining an accurate diagnosis

Monogenic inflammatory bowel disease (IBD) refers to a diverse spectrum of rare genetic disorders that present with intestinal inflammation. The majority of patients with monogenic IBD, unlike those with polygenic IBD, show symptoms before the age of six. Additionally, because monogenic and polygenic IBD can have indistinguishable endoscopic or histologic features, establishing an accurate diagnosis via traditional methods remains a challenge.

When to consider testing

Signs that should raise suspicion of monogenic IBD and prompt testing:

  • Onset at age of 6 or younger
    • The younger the patient, the higher the suspicion of a monogenic disorder
    • Up to 15% of patients with IBD presenting before the age of 6 may have a monogenic disorder2

  • Frequent infections
  • Overt skin manifestations (e.g., eczema, granulomas, cutaneous vasculitis)
  • Dysmorphism
  • Hair abnormalities
  • Refractory disease or does not respond to conventional IBD treatment

Which test should I order?


Early-Onset IBD: Genetic Testing and Clinical Applications

Identification of early-onset IBD patients may enable tailored treatment and surveillance plans. With over 50 genes implicated in early-onset IBD, genetic testing should be included in the workup of children under the age of six with IBD. Join Mayo Clinic for a discussion of this testing and its clinical application.

Learn more about how to order this evaluation at your institution.