Very early onset IBD: novel genetic aetiologies

Area of Science:

• Gastroenterology
• Genetics
• Immunology

Background:

• Inflammatory bowel disease (IBD) arises from complex genetic, environmental, immune, and microbial interactions.
• While over 230 IBD risk loci exist, their individual contributions are often small.
• Very early onset IBD (VEO-IBD) presents more severely with poorer prognosis and treatment resistance.

Purpose of the Study:

• To review current knowledge on the genetic causes of VEO-IBD.
• To highlight recent advancements in understanding VEO-IBD pathogenesis.
• To discuss therapeutic challenges and strategies.

Main Methods:

• Review of recent scientific literature on VEO-IBD genetics.
• Analysis of genetic variants and diagnoses in VEO-IBD patients.
• Exploration of overlapping conditions like primary immunodeficiencies.

Main Results:

• Strong evidence supports a major genetic role in VEO-IBD onset.
• Several high-penetrance monogenic diseases presenting with IBD-like symptoms have been identified.
• These genetic findings offer insights into disease mechanisms and potential therapeutic targets.

Conclusions:

• Understanding monogenic causes of VEO-IBD enhances knowledge of disease pathobiology.
• Personalized medicine approaches can be developed based on specific genetic findings.
• Improved understanding can lead to better patient care and quality of life.