In Wilson disease – colloquially called copper storage disease – (synonyms: Amyostatic syndrome; coeruloplasmin deficiency; dementia in hepatolenticular degeneration; dementia in Wilson disease; hepatolenticular degeneration; hepatolenticular degeneration, copper storage disease, Wilson disease, pseudosclerosis Westphal); kinky hair disease; Kinky-hair disease; Kinky-hair syndrome; Kinky-hair syndrome; Copper metabolic disorder; Lenticular degeneration; Menkes II disease [copper metabolic disorder]; Menkes II syndrome [copper metabolic disorder]; Progressive lenticular syndrome; Pyelonephritis in Wilson disease; Steely-hair syndrome – s. a. Menkes II syndrome; Trichopoliodystrophy – see also Menkes II syndrome; Tubulointerstitial kidney disease in Wilson disease; Tubulointerstitial disorder in Wilson disease; Westphal-von-Strümpell pseudosclerosis; Wilson I syndrome; Wilson disease [hepatolenticular degeneration]; Wilson lenticular degeneration; ICD-10-GM E 83. 0: disorders of copper metabolism) is an autosomal recessive inherited disorder in which one or more gene mutations disrupt copper metabolism in the liver. The affected gene is located on chromosome 13. As a result, copper accumulates and is deposited in the various organ systems, especially in the liver and brain.
If Wilson’s disease runs in families, it should be diagnosed from the age of about 4 to 5 years.
Two types can be distinguished according to the course of the disease:
- Juvenile type (Wilson type) – leads to death within a few years if untreated.
- Adult type (Westphal-Strümpell pseudosclerosis) – progresses more slowly.
Frequency peak: the disease manifests (becomes visible) between the ages of 5 and 45. The juvenile type (Wilson type) usually begins by the age of 20. The adult type begins between the ages of 20 and 40.
The incidence (frequency of new cases) is about 15-30 cases per 1,000,000 inhabitants per year (in Germany).
Course and prognosis: A distinction is made between an asymptomatic (preclinical) and symptomatic (clinical) course (hepatic and neurological). In the latter, transient liver symptoms usually occur between the 5th and 10th year of life, i.e. an increase in liver transaminases, reduced performance, fatigue and jaundice. Ultimately, liver failure may occur. Neurological manifestations usually occur after the age of 10. With early and consistent therapy, the prognosis is good and no restriction of life expectancy is to be expected. In some cases, the consequences of impaired copper metabolism are reversible. What may remain is liver fibrosis (connective tissue remodeling of the liver with functional impairment) or liver cirrhosis (liver shrinkage).If the disease is not treated in time or adequately, the liver cirrhosis will progress. Lifelong monitoring of copper metabolism as well as liver symptoms, platelets, renal values, and neurologic findings is required (approximately every 1 to 2 years).
