Related articles: Wilson disease
Definition
The disease (or disease) of Wilson is a disorder characterized by an accumulation of copper in various tissues of the body, particularly in the liver and central nervous system. It is a rare genetic disease, whose transmission is autosomal recessive (it develops only when two healthy carriers give birth to a baby).
Wilson's disease is due to the mutation of the ATP7B gene, located on chromosome 13. This genetic defect compromises the transport of copper, causing it to accumulate in the liver from birth. The impairment of copper metabolism also interferes with the link between the metal and ceruloplasmin (plasma protein used to transport and excret copper in the blood), thus decreasing the serum levels of the latter. The age of onset can range from the pediatric age to the adult age (indicatively, the symptoms appear between 5 and 40 years of age).
Most common symptoms and signs *
- Amenorrhea
- Rings of Kayser-Fleischer
- Anemia
- Increased transaminases
- Depression
- Difficulty concentrating
- Dysarthria
- Dysphagia
- Mood disorders
- Abdominal pain
- Brain edema
- Hepatitis
- Hepatomegaly
- Glycosuria
- hypokinesia
- Jaundice
- Headache
- Loss of coordination of movements
- Intense salivation
- Blood in the urine
- Tremors
Further indications
The symptoms of Wilson's disease depend on the accumulation of copper, which causes generalized neurological, hematological and hepatic damage. Liver damage is often the first manifestation of the disease, being the first district where copper absorbed through diet comes. Excess of hepatic copper produces a toxic action against the tissues of the liver, which undergo changes typical of the disease. The liver can therefore react by developing acute hepatitis or undergoing gradual degeneration (fibrosis and necrosis), which eventually causes cirrhosis. Over time, there may be an increase in liver volume (hepatomegaly) and an alteration in liver function. In other cases, the first manifestations reflect the involvement of the central nervous system. Motor disorders may also occur, which include a combination of tremors, dysarthria (speech difficulties), dysphagia (difficulty swallowing), sialorrhea and difficulty in movement. Sometimes the first symptoms are cognitive or psychiatric disorders: inability to concentrate, depression, mood swings and behavioral alteration. The toxic effect of copper is clearly maximum in the brain, but it can also affect other organs, such as the kidneys and reproductive organs. Furthermore, a small amount of copper can deposit in the cornea, leading to the formation of Kayser-Fleischer rings. Other possible symptoms of Wilson's disease are haemolytic anemia, weakened bones (due to the loss of calcium and phosphate), amenorrhea, repeated abortions and hematuria.
Diagnosis is based on the clinical presentation of the disease, on the finding of low levels of serum ceruloplasmin and high urinary copper excretion and on the demonstration of the related genetic defect.
Wilson's disease can be treated effectively with the use of drugs that help eliminate copper from the liver, and from other tissues, through urine (penicillamine or another chelating drug). In asymptomatic subjects or in maintenance therapy, zinc can be used. Liver transplantation is indicated in patients with fulminant hepatitis or in those with progression of liver dysfunction. In addition, those suffering from Wilson's disease should avoid all foods rich in copper, such as shellfish, chocolate, liver and dried fruit.
