Chronic nonspecific multiple ulcer of the small intestine segregates in offspring from consanguinity

Background and aims: Chronic nonspecific multiple ulcer of the small intestine is a recently proposed enteropathy characterized by persistent blood and protein loss from the small-bowel. We examined possible segregation of the disease in family pedigrees.

Methods: All cases of the disease diagnosed at our institution were reviewed with respect to particular focuses on the presence of close consanguinity in the families, the enteroscopic findings and the long-term clinical course. The diagnosis was based on persistent occult gastrointestinal bleeding and hypoproteinemia for more than 5 years, and irregularly shaped shallow ulcers in the ileum.

Results: During a 45-year-period, 13 patients were diagnosed as having the disease. There were 11 females and 2 males, with ages ranging from 8 to 37 years at the time of the initial presentation and with those from 13 to 38 years at the diagnosis. Enteroscopy performed in 11 patients with a time duration ranging from 0.5 to 44 years after the diagnosis revealed active ileal ulcers in 10 patients. Parents' consanguineous marriage was verified in 6 patients, two of whom also had siblings with the enteropathy. Another patient without consanguinity had a sibling with protein-losing enteropathy.

Conclusion: Chronic nonspecific multiple ulcer of the small intestine seems to segregate in offspring from consanguineous marriage.