Metabolic Liver Disease
The liver has complex metabolic functions with a central role in various aspects of protein, lipid and carbohydrate metabolism, homeostasis, and detoxification. It is not surprising, therefore, that the liver is involved in many metabolic disorders, eithe
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Metabolic Liver Disease
The liver has complex metabolic functions with a central role in various aspects of protein, lipid and carbohydrate metabolism, homeostasis, and detoxification. It is not surprising, therefore, that the liver is involved in many metabolic disorders, either directly when a specific mutation affects the function of a specific enzymatic pathway or secondarily (e.g. metabolic syndrome). Indications for liver biopsy may vary from assessment of the severity of liver damage in patients with a known metabolic condition, to a more diagnostic intent in patients with a liver disorder of unknown aetiology. In some cases, liver histology
may be suggestive of a metabolic disorder in patients with a clinical diagnosis of liver disease of other aetiology or cryptogenic. The classification of metabolic disorders is complex, and usually based on a systematic grouping according to metabolic pathways and function. However, knowledge of the incidence and clinical manifestation of the various metabolic conditions in relation to age and their main histological patterns may be more practical. In this chapter we provide the reader with examples of the common and of some of the rare conditions as a quick image reference.
A.W.H. Chan et al., Atlas of Liver Pathology, Atlas of Anatomic Pathology, DOI 10.1007/978-1-4614-9114-9_4, © Springer Science+Business Media New York 2014
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Metabolic Liver Disease
Disorders of Iron Metabolism DISEASE
PROTEIN DEFECT
LOCUS
Hereditary haemochromatosis type 1
Haemochromatosis
HFE (6q22.2)
Hereditary haemochromatosis type 2A (Juvenile haemochromatosis)
Haemojuvelin
HJV (1q21.1)
Hereditary haemochromatosis type 2B (Juvenile haemochromatosis)
Hepcidin
HAMP (19q13.12)
Hereditary haemochromatosis type 3
Transferrin receptor 2
TFR2 (7q22.1)
Hereditary haemochromatosis type 4A/B (Ferroportin disease)
Ferroportin
HFE4 (2q32.2)
DMT1 deficiency
Divalent metal transporter 1
SLC11A2 (12q13.12)
Atransferrinaemia
Transferrin
TF (3q22.1)
Acaeruloplasminaemia
Caeruloplasmin
CP (3q24-25)
Fig. 4.1 Hereditary iron overload. The table summarises genetic diseases associated with hepatic iron overload. Type 1 hereditary haemochromatosis (HH) is the commonest genetic disease associated with hepatic iron overload and has a prevalence rate between 1:200 and 1:500 in Caucasian populations; all the other genetic diseases are rare. Type 4 HH is an autosomal dominant disease, whereas all others are autosomal recessive disorders. Type 2 HH, divalent metal transporter
1 (DMT1) deficiency, and atransferrinaemia present during childhood or adolescence, whereas all others occur in adulthood. Type 4A HH (ferritin loss-of-function mutation), atransferrinaemia, and acaeruloplasminaemia are associated primarily with hepatic mesenchymal haemosiderosis, whereas all others are characterised primarily by hepatic parenchymal haemosiderosis.
Fig. 4.2 Hereditary haemochromatosis. Cirrhosis is present with regenerative nodules separated by broad fibrous septa. HH, or genetic haemoch
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