For a study, researchers looked at gastrointestinal problems in a large group of people with a certain chromosome problem. This included people 17 years old or older with documentation of the chromosomal problem in that area. They summarized these people’s gastrointestinal problems during childhood, adolescence, and adulthood. Investigators also looked at whether there was a statistical association between particular symptoms and other patient characteristics. About 206 patients in the study (46% female, with a mean age of 27) were similar to the overall cohort in terms of their clinical characteristics. The genetic distribution was also similar, with 96% of patients having deletions, including the critical LCR22A-LCR22B segment. Most patients experienced chronic gastrointestinal symptoms throughout their lives (91%), but congenital gastrointestinal malformations (3.5%) and gastrointestinal autoimmune diseases (1.5%) were uncommon. Chronic symptoms without anatomic or pathologic abnormalities represented these patients’ vast burden of illness. People with chronic symptoms in adulthood are more likely to have other chronic gastrointestinal problems and psychiatric conditions  (P<0.01) but not with deletion size or physiologic comorbidities (P>0.05). One exception was increased nausea/vomiting in hypothyroidism (P=0.002). This was found in a study of over 1,000 people. However, the study showed that having the 22q11.2 deletion did not increase the chances of having other health conditions, such as congenital heart disease or palatal abnormalities. FGIDs (functional gastrointestinal disorders) were common in people with 22q11.2DS. Providers should consider screening for the deletion in patients with FGIDs and associated comorbidities such as neuropsychiatric illness.

 Source: journals.lww.com/jpgn/Abstract/2022/08000/Gastrointestinal_Features_of_22q11_2_Deletion.9.aspx