Common Genetic Variants in the Bile Acid Synthesis Enzyme CYP7A1 Are Associated With Severe Primary Bile Acid Diarrhea

Abstract

Bile acid diarrhea (BAD) is increasingly recognized as a common cause of chronic bowel disorders including increased stool frequency, urgency, and incontinence, overlapping with irritable bowel syndrome with diarrhea and functional diarrhea.1 BAD can be diagnosed by measurement of fecal bile acids (BAs), the 75-selenium homocholic acid taurine (SeHCAT) retention nuclear medicine test and biomarkers where available, or by therapeutic response.1 Idiopathic, primary BAD occurs in 25%–33% of patients presenting with chronic diarrhea, giving a population prevalence estimate of approximately 1%.