Systematic Review Reveals Importance of Early Detection of Monogenic IBD

Research reveals early diagnosis and further research are both key for effective management and treatment of monogenic inflammatory bowel disease (IBD).

Generally, cases and data on monogenic IBD are rare, and only limited treatment options such as transplant and surgery are available. With improved understanding of the disease, researchers stated in an article recently published in Clinical Gastroenterology and Hepatology, believe this can change.

In studying effective management of monogenic IBD, the investigators conducted a systematic review of 303 eligible Medline articles published between January 2000 and December 2020 on individual monogenic IBD cases. The research focused on varied clinical features, previous treatment strategies, and genetic profiles of patients with monogenic IBD.

According to the authors, the most frequently reported monogenic IBD genes were IL10RA/B, XIAP, CYBB, LRBA and TTC7A. Determining patient profiling, they found 63.4% of patients were recorded to have developed IBD before 6 years of age; 17.4% between the ages of 10 and 17.9 years; and 10.9% after 18 years of age.

The investigation revealed significant differences between these age groups and the monogenic disorders. Extraintestinal (EIC) comorbidity was present in 31.7% of the patients before the onset of IBD, while 76% developed at least one EIC after diagnosis. Atypical infection was the most common EIC, affecting 44.7% of patients, while, 38.4% developed dermatologic abnormality and 21.9% manifested autoimmune conditions.

“Bowel surgery, biologic therapy, and hematopoietic stem cell transplantation (HSCT) were performed in 27.1%, 32.9%, and 23.1% of patients, respectively,” the authors reported.

Early identification and improved understanding of the characteristics of the genes and underlying disease processes in monogenic IBD is important for effective management,” they concluded.


--Angelique Platas



Nambu R, Warner N, Mulder D, et al. A systematic review of monogenic inflammatory bowel disease. Clin Gastroenterol Hepatol Published online March 18, 2021.