Main disease groups
Liver damage often becomes part of broader genetic metabolic disorders. The main groups include:
- Glycogen storage diseases (glycogenoses).
- Lysosomal storage diseases (including sphingolipidoses and mucopolysaccharidoses).
- Mitochondrial disorders.
Wilson's disease and glycogen storage diseases
Wilson's disease (hepatolenticular degeneration) is caused by a mutation in the ATP7B gene, leading to the accumulation of copper in the liver, central nervous system, kidneys, and eyes.
- Onset: after 5 years of age.
- Early stage: moderate cytolysis.
- Late stage: neurological symptoms appear in the 2nd–3rd decade of life.
Diagnosis is based on detecting hypercupremia, hypercupriuria, decreased ceruloplasmin, Kayser–Fleischer rings, and biopsy. Treatment involves lifelong therapy with chelators (penicillamine) and zinc.
Glycogen storage disease is an enzymopathy characterized by excessive glycogen deposition. The liver is particularly severely affected in types I and IV. It features a severe clinical course culminating in cirrhosis. Specific "glycogen bodies" are found in hepatocytes. The radical treatment is liver transplantation.
Bilirubin metabolism disorders
Gilbert syndrome is a common (5–10%) benign condition involving impaired bilirubin transport and conjugation. It presents with recurrent jaundice. The unconjugated bilirubin fraction is elevated in the blood. Phenobarbital is used to lower its levels.
Crigler–Najjar syndrome is a severe defect of uridine diphosphate glucuronosyltransferase (type 1 is complete, type 2 is partial). Unconjugated bilirubin is critically high (exceeding 300–340 µmol/L). A dangerous complication is bilirubin encephalopathy. It is treated with phenobarbital, phototherapy, exchange transfusion, and sorbents.
Primary biliary cholangitis (PBC)
A chronic autoimmune disease that predominantly affects women over 25 years of age. It begins with portal tract inflammation, leading to the destruction of intrahepatic bile ducts. The mainstay of therapy is ursodeoxycholic acid (UDCA) preparations.
Class and exam questions
What accumulates in Wilson's disease?
In Wilson's disease, copper accumulates toxically in the liver, central nervous system, and other tissues due to a mutation in the ATP7B gene.
What is the difference between Gilbert and Crigler–Najjar syndromes?
Gilbert syndrome has a benign course with moderate jaundice. Crigler–Najjar syndrome is a severe pathology with a critical increase in bilirubin and a high risk of encephalopathy.
How is primary biliary cholangitis treated?
The primary medical treatment for PBC is long-term administration of ursodeoxycholic acid preparations.
What else to study on this topic
- Mechanism of copper's toxic effect on hepatocytes
- Types of glycogenoses and their differences
- Pathogenesis of bilirubin encephalopathy
- Diagnostic criteria for autoimmune liver diseases
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