Hepatolenticular degeneration

гепатолентикулярная дегенерация Hepatolenticular degeneration (Westphal-Wilson-Konovalov's disease, hepatocerebral degeneration, hepatolenticular dystrophy, etc.) is a hereditary disease characterized by destructive processes in the brain, liver damage as a cirrhosis and a violation of copper metabolism. The most common is between the ages of ten and thirty

Causes

Hepatolenticular degeneration is predominantly found in adolescence, which apparently belongs to genetically conditioned fermentopathies, which are hereditary in terms of the autosomal recessive type.

At the examination, in the blood serum of patients there is a reduced content of ceruloplasmin binding copper, there is also a significant increase in the absorption of copper in the intestine. Due to this, there is an increased deposition of copper in the skin, in the ganglia of the nervous system, along the periphery of the cornea, in the liver (leading to the development of cirrhosis) and in other tissues. The excretion of copper in the urine increases five to ten times

Course and symptoms

Often, hepatolenticular degeneration begins with symptoms of liver damage (diagnosed as liver cirrhosis or chronic hepatitis), then neurological disorders (amemia of the face, chanting speech, limb tremor) are observed, then the thinking and hypertension of the limb muscles develop. In other cases, the nervous system is affected earlier, and only then the patient is diagnosed with cirrhosis of the liver (large-nodular), which in clinical manifestations practically does not differ from cirrhosis of another etiology. Hyperpigmentation of the skin (from brown to dark gray) also has an important diagnostic value. On the periphery of the cornea of ​​the patient there is a characteristic greenish-brown rim (Kaiser-Fleischner rings). The deposition of copper in the kidneys leads to renal glucosuria, hyperaminoaciduria, a moderate splenomegaly is found.

The diagnosis is confirmed by laboratory tests (study of serum for the content of ceruloplasmin, as well as the content of copper in daily urine and blood) and puncture liver biopsy

Treatment

A specially designed diet with a very low copper content is prescribed. Good results were noted after the appointment of D-penicillamine (a course of 20-40 mg / 1 kg daily, for a long time), increasing the release of copper in the urine.

In conclusion, I would like to add that in cases where hepatolenticular degeneration is not treated, then after the progression of the disease (if there are obvious symptoms) for several years - in most cases a fatal outcome occurs.