Metabolic Liver Diseases

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Haemochromatosis is caused by excessive deposition of iron in tissues.
In haemochromatosis, excessive iron accumulation causes chronic damage to liver cells. Two types
of disease are distinguished.
Primary haemochromatosis is inherited as an autosomal recessive trait, and leads to excessive
absorption of iron from the gut.
The gene is located on chromosome 6, in association with the HLA locus.
Iron accumulates as haemosiderin in many tissues including the liver, pancreas,
pituitary, heart and skin. Accumulation of iron in the liver causes death of hepatocytes (possibly from
the generation of free radicals) and leads to cirrhosis.
Accumulation in the pancreatic islets causes diabetes mellitus, and in the cardiac muscle gives
rise to a cardio-myopathy with heart failure.
Iron accumulates as haemosiderin in many tissues including the liver, pancreas, pituitary, heart and skin.

Macroscopically, the liver and other affected tissues appear rusty brown due to haemosiderin in cells
(hepatocytes, Kupffer cells, and biliary epithelium in the liver).
Diagnosis can be made on the finding of an extremely high saturation of transferrin in the blood, with
high serum iron and ferritin levels, and is usually confirmed by liver biopsy.
Secondary haemochromatosis (also called haemosiderosis) is the result of excessive iron
accumulation caused by other primary diseases (e.g. alcoholism) and by repeated blood transfusions
for diseases with abnormalities of red cell formation, particularly thalassaemia.

Perls' stain reveals iron deposition in tissues as a blue colour. In (a) iron is seen in liver cells,
as well as in biliary epithelium. Macroscopically, affected tissues look rusty brown, as illustrated by
the pancreas in (b) taken from a patient with primary haemochromatosis.


Copper accumulation in

alpha1-antitrypsin deficiency causes chronic liver disease and cirrhosis
alpha1-antitrypsin deficiency is an important heritable cause of chronic liver disease,
and also causes panacinar emphysema.
Affected individuals fail to produce the normal active extracellular protease inhibitor alpha1-antitrypsin.
Wilson's disease is an inherited disease of copper metabolism
Wilson's disease is a rare but treatable cause of chronic destructive liver disease.
An inherited autosomal recessive disorder of copper metabolism, it causes excess copper to
accumulate in the liver and brain. This defect is a mutation in a copper-transport ATPase gene.
Many alleles for this protease inhibitor gene are known, each of which has been given a letter.
The normal phenotype is known as PiMM. The most significant abnormal allele is termed Z.
Heterozygotes (PiZM) carry an increased risk of lung damage if they smoke, developing emphysema.
Homozygotes (PiZZ) develop emphysema and liver disease.
Disease may be manifest in neonates as a neonatal hepatitis, although this is not
an inevitable consequence of the PiZZ genotype.
In adult life, disease may be discovered following investigation of abnormal liver function tests.
Investigation may reveal either a chronic hepatitisor cirrhosis.

Excess copper in the liver initially causes a chronic hepatitis picture clinically, and
pathologically progresses to cirrhosis. Accumulation in the brain leads to psychiatric disorders,
abnor-mal eye movements, and movement disorders resembling Parkinson's disease.
Diagnosis can be made by finding a low level of cerulo-plasmin, the copper-binding protein,
in the serum (as it is not released from the liver).
Excess copper is demonstrable in liver biopsy material by special staining.

Liver biopsy shows accumulation of a1-antitrypsin in hepatocytes as globules which stain with PAS
(a) and can also be specifically stained by immunoperoxidase methods using antibodies
to alpha1-antitrypsin (b).
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