Bile Acid Synthesis Disorders

Bile Acid Synthesis Disorders

Bile acid is a steroid acid that is found in the bile and synthesized in the liver. When combined with glycine or taurine, they form bile salts produced in the liver, which it stores in gall bladder. When you eat, your gallbladder releases these acids, and 95 percent of them are then used in the terminal ileum or absorbed back into the liver and used again later. They are important for digestion and absorption of fats in small intestine, but research indicates they can also have various hormonal effects throughout the body.

Excessive bile acid production and malabsorption has been linked to several gut related problems and gastrointestinal disease, including Chron's disease, irritable bowel syndrome with diarrhea, radiation enteropathy, chronic pancreatitis and Celiac disease. It can also occur after an ileal resection, cholecystectomy and vagotomy. More bile than is needed for digestion enters the intestine, which stimulates the release of water and boosts colon motility, leading to chronic diarrhea and other symptoms. The problem is often under-recognized.

Bile acid synthesis disorders can be related to single enzyme defects, Zellweger spectrum disorder and other rare metabolic conditions. Symptoms may include fatty stool, nutrient malabsorption and liver disease. Although rare, these disorders can lead to life-threatening complications. Those who have them may not have the enzymes their bodies need to synthesize bile acids, which can lead to excess bile in the liver, a condition known as cholestasis, as well as reduced bile flow and nutritional malabsorption.

Without proper treatment, the small intestinal bacterial growth can become imbalanced. This could lead to nutritional deficiencies, osteoporosis and unintentional weight loss. Treatments generally involve bile acid sequestrates and can include cholestyramine and colestipol. These treatments work by binding with the bile acids so that they can be more easily eliminated in the stool. They can also help lower LDL cholesterol levels in some patients.

Because this condition is commonly under-recognized and under-diagnosed, you should talk to your doctor if you have any symptoms, including chronic or frequent diarrhea.
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