Multi-talent with mutation: Early identification and treatment of hereditary liver disease


Important for survival and inconspicuous: the liver performs numerous tasks. It is the most important detoxification organ of our body. The liver filters pathogens and pollutants from the body's circulation, rendering them harmless and ensuring that they are excreted.
In addition to its filter function, the liver does much more: it assumes central metabolic functions, supports the immune system and is storage, control and gland in one. The liver is very quiet. Even if it is not well. Lack of exercise, alcohol or even medication can put a strain on the multi-talent. Hereditary factors also influence the functioning of the liver.

Since the liver rarely causes pain when problems occur, diseases are usually diagnosed very late. Genetically caused liver diseases often do not cause any noticeable signs of disease and are therefore difficult to diagnose.
Hereditary liver diseases often result in increased copper, glycogen or fat deposits. One example of this is Wolman's disease, a rare fat storage disease (LAL deficiency). The disease already affects infants and very quickly leads to liver failure. Further examples with liver involvement are lysosomal storage diseases: Porphyria, Wilson's disease or Gaucher's disease. The good news: many liver diseases are treatable - provided they are detected in time. Genetic testing can identify hereditary liver diseases before symptoms are fully developed.

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