7 Liver disorders and related
conditions
7.1 Biliary disorders
Cholestasis 01-May-2017
Description of condition
Cholestasis is an impairment of bile formation and/or bile
flow, which may clinically present with fatigue, pruritus,
dark urine, pale stools and, in its most overt form, jaundice
and signs of fat soluble vitamin deficiencies.Treatment
gUrsodeoxycholic acid p. 65 [unlicensed] and
colestyramine p. 129 [unlicensed under 6 years] are used to
relieve cholestatic pruritus in children, even if evidence to
support their use is limited.
Colestyramine is an anion-exchange resin that is not
absorbed from the gastro-intestinal tract. It relieves pruritus
by forming an insoluble complex in the intestine with bile
acids and other compounds—the reduction of serum bile
acid levels reduces excess deposition in the dermal tissue
with a resultant decrease in pruritus.
Under specialist supervision, other drugs which may be
used as an alternative treatment forintractablecholestatic
pruritus include rifampicin p. 364 [unlicensed indication],
phenobarbital p. 216 [unlicensed indication] and opioid
antagonists [unlicensed indication]. However, they should be
used with caution and under expert guidance as these
children usually have severe liver disease—careful
monitoring is required.lInborn errors of primary bile acid
synthesis 27-Apr-2018
Description of condition
Inborn errors of primary bile acid synthesis are 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.Treatment
Cholic acid p. 65 is licensed for the treatment of inborn
errors of primary bile acid synthesis due to an inborn
deficiency of two specific liver enzymes. It acts by replacing
some of the missing bile acids, therefore relieving the
symptoms of the disease.
Chenodeoxycholic acid below is licensed for the treatment
of inborn errors of primary bile acid synthesis due to a
deficiency of one specific enzyme in the bile acid synthesis
pathway when presenting as cerebrotendinous
xanthomatosis.
Ursodeoxycholic acid p. 65 [unlicensed indication] has
been used to treat inborn errors in primary bile acid
synthesis, but there is an absence of evidence to recommend
its use.Primary biliary cholangitis 30-May-2017
Description of condition
Primary biliary cholangitis (or primary biliary cirrhosis) is a
chronic cholestatic disease which develops due to
progressive destruction of small and intermediate bile ductswithin the liver, subsequently evolving tofibrosis and
cirrhosis.Treatment
gUrsodeoxycholic acid p. 65 is recommended for the
management of primary biliary cholangitis, including those
with asymptomatic disease. It slows disease progression, but
the effect on overall survival is uncertain.hSmith-Lemli-Opitz syndrome 30-May-2017
Description of condition
Smith-Lemli-Opitz syndrome is an inborn error of
cholesterol synthesis. It is characterised by multiple
congenital anomalies, intellectual deficit, growth delay,
microcephaly, and behavioural problems. The disease is
present at birth, but may be detected in later childhood or
adulthood in mild forms. Hypoglycaemia due to adrenal
insufficiency can present as an acute manifestation.Aims of treatment
There is currently no cure for Smith-Lemli-Opitz syndrome.
Management is aimed at symptom relief and alleviation of
functional disabilities.Treatment
gChildren with Smith-Lemli-Opitz syndrome are treated
with dietary cholesterol supplementation, including high
cholesterol foods (such as egg yolks) or a suspension of
pharmaceutical grade cholesterol p. 66 (available from
Special-order manufacturers p. 1066 or specialist importing
companies) to help improve growth failure and
photosensitivity.lHowever, it is not clear who will benefit
most from cholesterol treatment or how long it should
continue.
gIn some cases bile acid supplements, such as
chenodeoxycholic acid below [unlicensed] and
ursodeoxycholic acid p. 65 [unlicensed indication] have been
also used for this condition, but their use is not generally
recommended.lBILE ACIDS
Chenodeoxycholic acid 05-Apr-2018
lINDICATIONS AND DOSE
Cerebrotendinous xanthomatosis (specialist use only)
▶BY MOUTH
▶Child:Initially 5 mg/kg daily in 3 divided doses,
adjusted according to response; maximum 15 mg/kg
per day; maximum 1000 mg per day
Defective synthesis of bile acid (specialist use only)
▶BY MOUTH
▶Neonate:Initially 5 mg/kg 3 times a day, reduced to
2. 5 mg/kg 3 times a day.▶Child:Initially 5 mg/kg 3 times a day, reduced to
2. 5 mg/kg 3 times a day
Smith-Lemli-Opitz syndrome (specialist use only)
▶BY MOUTH
▶Neonate: 7 mg/kg once daily, alternatively 7 mg/kg daily
in divided doses.▶Child: 7 mg/kg once daily, alternatively 7 mg/kg daily in
divided doseslUNLICENSED USENot licensed for defective synthesis of
bile acid. Not licensed for Smith-Lemli-Opitz syndrome.
lCONTRA-INDICATIONSNon-functioning gall bladder.
radio-opaque stones64 Liver disorders and related conditions BNFC 2018 – 2019
Gastro-intestinal system1