Heyl - Morbus Wilson

Morbus Wilson

If the liver can no longer secrete ingested copper, it can have severe consequences

The Morbus Wilson (synonyms: hepatolenticular degeneration, Westphal pseudosclerosis) is a hereditary condition of copper metabolism in the liver, which leads to a reduced copper secretion in the bile. As a result, copper accumulates in the liver and induces an inflammatory response, which can even lead to a liver cirrhosis. Excess copper also reaches other organ systems via the bloodstream, especially the eyes and central nervous system, but also the heart, kidney, and bones. The greatly increased concentration of copper in the body leads to toxic effects with a variety of symptoms, most notably liver damage and neurological deficits.

Samuel A. K. Wilson first described clinical and pathoanatomical symptoms on the core lens of the eye; therefore the disease was named after him. Morbus Wilson is an autonomal recessive inherited disorder. Found on chromosome 13, the defect of the ATP7B-gene influences the function of the transmembrane protein for copper ions. The incidence of this genetic defect is 1:30000. There are about 3000 people affected by this condition in Germany.

A causal therapy of Morbus Wilson is currently not possible, apart from a liver transplant. That is why the aim of treatment is the increase in copper excretion with the help of drugs. Additionally, those being treated should avoid food containing large amounts of copper.

Ever since its development in 1954, penicillamine has been the standard therapy for this condition. Penicillamine has a great affinity for heavy metals, the bonding itself occuring via soluble sulfur-nitrogen chelates. The active principle of penicillamine in the Morbus-Wilson-Therapy is therefore the bonding of the excess amounts, and resultingly toxic copper, which is then eliminated through the kidney. The many years of treatment of patients affected by Morbus Wilson show that penicillamine is a substance that, even after longterm application, can still be used without any major side effects. Possible side effects almost always appear within the first few weeks of treatment and do not compare to the therapeutic success.

If the illness is diagnosed early and treated adequately, patients can expect an almost unrestricted way of life and a normal life expectancy.

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