New understanding of monogenic IBD may lead to effective management
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Monogenic inflammatory bowel disease, while rare, has varied extra-intestinal comorbidities and limited treatments, according to a study published in Clinical Gastroenterology and Hepatology.
“In recent years, the number of novel genes causing monogenic IBD has been increasing, but in parallel with these discoveries, there is an urgent need to better understand this group of diseases to enable prompt diagnosis, improve prognosis, predict the clinical course and to establish new treatment strategies,” Ryusuke Nambu, MD, from the SickKids Inflammatory Bowel Disease Centre, the Hospital for Sick Children in Toronto, Canada, and colleagues wrote. “From this systematic review, we now have an improved understanding of the underlying genetic basis of these diseases, especially those with relatively high frequencies, paving the way for prognostication and effective management.”
Nambu and colleagues used MEDLINE to conduct a systematic review of the literature and identified 303 eligible articles comprising a total of 750 individual monogenic IBD cases.
The monogenic IBD genes reported most often in the review included IL10RA/B, XIAP, CYBB, LRBA and TTC7A.
“In total, 63.4% of patients developed IBD before 6 years of age, 17.4% between ages 10 and 17.9 years, and 10.9% after 18 years of age,” Nambu and colleagues wrote.
The difference between these age groups and underlying monogenic disorders was substantial, according to investigators. Extra-intestinal comorbidity was seen in 31.7% of cases prior to IBD onset; however, 76% developed at least one extra-intestinal comorbidity during clinical course. Atypical infection (44.7%), dermatologic abnormality (38.4%), and autoimmunity (21.9%) were among the most common extra-intestinal comorbidities. Bowel surgery was performed in 27.1% of patients, biologic therapy in 32.9% and hematopoietic stem cell transplantation in 23/1%.
“Overall, monogenic IBD diagnosis and management is a challenging clinical problem across many age groups,” the researchers wrote. “The [extra-intestinal comorbidities] of monogenic IBD are highly diverse, and the management of monogenic IBD is difficult. Many monogenic IBD genes have only a few reported cases and therefore generalizations about clinical course must be limited.”
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