Monogenic inflammatory bowel disease: An unfolding enigma

Area of Science:

• Gastroenterology
• Genetics
• Immunology

Background:

• Inflammatory bowel disease (IBD) encompasses chronic gastrointestinal tract disorders characterized by relapsing inflammation.
• IBD can stem from gene-environment interactions or monogenic conditions due to pathogenic mutations affecting the gut's protective mechanisms.
• Approximately 10%-15% of very early-onset IBD cases may involve an underlying monogenic cause.

Purpose of the Study:

• To comprehensively review monogenic inflammatory bowel disease (IBD).
• To discuss the epidemiology, clinical presentation, and diagnostic approaches for monogenic IBD.
• To explore the therapeutic challenges and recent advancements in managing monogenic IBD.

Main Methods:

• Literature review of monogenic inflammatory bowel disease.
• Analysis of epidemiological data.
• Synthesis of clinical presentation and diagnostic strategies.
• Review of current and emerging therapeutic modalities.

Main Results:

• Monogenic IBD presents distinct molecular underpinnings, age of onset, extraintestinal comorbidities, and treatment responses compared to polygenic IBD.
• Identification of specific genetic mutations is key to understanding disease mechanisms.
• Tailored therapeutic strategies are essential for optimal patient outcomes.

Conclusions:

• Monogenic IBD represents a distinct entity requiring specialized understanding.
• Accurate diagnosis and understanding of genetic basis are vital for prognostication and treatment selection.
• Continued research into monogenic IBD will drive therapeutic innovation and improve patient care.