Inborn Errors Of Primary Bile Acid Synthesis

Question 1

What are inborn errors of primary bile acid synthesis?

Answer 1

a group of diseases in which the liver does not produce enough primary bile acids due to enzyme deficiencies. These acids are the main components of the bile, and include cholic acid and chenodeoxycholic acid.

Question 2

The main components of the bile include ______________ and ________________.

Answer 2

cholic acid

chenodeoxycholic acid

Question 3

Which medications can be used in the treatment of inborn errors of primary bile acid synthesis? (3)

Answer 3

1. Cholinergic acid (replaces some of the missing bile acids, relieving symptoms)
2. Chenodeoxycholic acid
3. Ursodeoxycholic acid (unlicensed); absence of evidence to recommend its use

Question 4

What is cholic acid?

Answer 4

the predominant primary bile acid in humans, which can be used to provide a source of bile acid in patients with inborn deficiencies in bile acid synthesis

Question 5

What are the side effects of cholic acid? (3)

Answer 5

1. Cholelithiasis (long term use)
2. Diarrhea
3. Pruritus

Question 6

Patients taking cholic acid who present with pruritus and/or persistent diarrhoea should be investigated for potential overdose by a ________________ assay.

Answer 6

serum and/or urine bile acid

Question 7

What monitoring requirements are necessary for patients taking cholic acid? (2)

Answer 7

monitor serum and/or urine bile-acid concentrations every 3 months for the first year, then every 6 months for three years, then annually

monitor liver function tests at the same or greater frequency