How Do Bile Acid Replacements Work?

Bile acid replacements are a class of drugs used to treat infants, children, and adults who have a rare condition called bile acid synthesis disorders (BASDs) due to single enzyme defects and adjunctive treatment of peroxisomal disorders including Zellweger spectrum disorders (a group of autosomal recessive genetic disorders) in patients who exhibit manifestations of liver disease, steatorrhea (an increase in fat excretion in the stools), or complications from decreased fat-soluble vitamin absorption. In several cases, symptoms are present at birth or during the newborn period. If untreated, the more severe forms of these disorders can eventually progress to cause life-threatening complications such as scarring of the liver (cirrhosis) and liver failure.

BASD is characterized by signs and symptoms such as:

• Jaundice that lasts more than two weeks
• Poor growth
• Vitamin deficiencies (lack of vitamins A, D, K, or E)
• Pale, foul-smelling stools
• Dark urine
• Enlarged liver or spleen
• Liver disease from an unknown cause

The recommended dose is 10 to 15 mg/kg administered orally once daily in pediatric and adult patients.

Bile acid replacements work in the following ways:

• BASDs are a group of rare metabolic disorders characterized by defects in the synthesis of bile acids.
• Bile acids are chemical compounds found in the liver which have several roles in the body such as promoting the flow and excretion of bile and assisting in the intestinal absorption of fat and fat-soluble vitamins.
• Bile acids are formed from cholesterol, and therefore, bile acid synthesis serves as the main pathway in breaking down and eliminating cholesterol from the body (cholesterol degradation).
• The failure to produce functional bile acids results in the accumulation of abnormal bile acids and other substances (intermediary metabolites).
• The resulting accumulation of abnormal bile acids, intermediary metabolites, and cholesterol in the body can damage certain organs.
• These disorders can be successfully treated by replacing the missing bile acids (bile acid replacement therapy). 

Bile acid replacement therapy is used to treat conditions such as:

• Bile acid synthesis disorders
• Peroxisomal disorders
  • Zellweger spectrum disorders

Common side effects include:

• Diarrhea
• Malaise (a sense of unease or a lack of well-being)
• Nausea
• Abdominal pain
• Reflux esophagitis
• Tiredness
• Yellowing of the eyes or skin
• Loss of appetite

Other rare side effects include:

• Intestinal polyps (growths on the lining of the colon or large intestine)
• Urinary tract infections
• Skin lesions
• Peripheral neuropathy (caused by damage to the nerves outside the brain and spinal cord (peripheral nerves)

Information contained herein is not intended to cover all possible side effects, precautions, warnings, drug interactions, allergic reactions, or adverse effects. Check with your doctor or pharmacist to make sure these drugs do not cause any harm when you take them along with other medicines. Never stop taking your medication and never change your dose or frequency without consulting your doctor.

Drug names include:

• Cholbam
• Cholic acid