Morbus Wilson: Symptoms and therapy of copper storage disease

Morbus Wilson: Symptoms and therapy of copper storage disease

Wilson’s disease is a genetically inherited copper storage disease in which copper deposits occur in the brain, eyes and liver, among other places. This leads to various symptoms, such as movement disorders, liver dysfunction and skin changes. The disease is diagnosed based on laboratory values, among other things. Wilson’s disease cannot be cured and, if left untreated, can lead to death. With medication and a low-copper diet, however, life expectancy is not shortened if therapy is started in good time.

What is Wilson’s disease?

Morbus Wilson is a genetically inherited copper storage disease which, due to a defect in the so-called Wilson gene, leads to impaired copper excretion via the bile and impaired copper transport in the body. This results in an overload of the body of free, i.e. unbound, copper and ends up in copper deposits, especially in the liver, the central nervous system, the eye cornea and the red blood cells. Several different symptoms can occur.

Wilson’s disease usually becomes noticeable between the ages of five and 40. It affects about one person in 30,000, making it a scarce inherited condition.

Two phases of the disease can be distinguished: the preclinical, asymptomatic, and the clinical, symptomatic stages. How long the asymptomatic stage lasts varies from person to person and depends on various factors and compensation mechanisms, as well as what is known as expressivity, i.e. how strongly the disease manifests itself in the individual case. That is why there are people whose symptoms already appear in childhood, while others only develop symptoms as adults.

 

What are the symptoms of Wilson’s disease?

The symptoms are caused by the deposits of copper in the various organs and can be as follows:

Liver:

  • fatty liver
  • liver inflammation
  • Liver cirrhosis (shrinkage of the liver caused by irreversible scarring of the liver)
  • Hepatic encephalopathy (brain dysfunction due to accumulation of toxic substances in liver dysfunction such as liver cirrhosis) with drowsiness and trembling of the hands

Nervous system:

  • Movement disorders in the form of Parkinson’s syndrome (muscle rigidity, muscle tremors and stiffness) or Huntington‘s disease (uncontrolled, excessive movements)
  • dysphagia
  • slurred language

Mental changes:

  • Personality and behavioural disorders (for example, more aggressive behaviour)
  • Depression
  • dementia

Eye:

  • Kayser-Fleischer corneal ring: ring-shaped brown discolouration of the eyes at the junction of the cornea and sclera

High:

  • Acanthosis nigricans: severe keratinization and blackening of the skin in places
  • Darkening of the skin and yellowing (in jaundice caused by liver damage)
  • Expansion of the superficial arterial vessels is a sign of liver dysfunction; these can also appear on the face.

Blood changes:

  • Coagulation disorders as a result of liver damage
  • Breakdown of red blood cells and lack of blood

So, Wilson’s disease can lead to several different symptoms. While some – like skin changes or eye discolouration – are easily visible, others can only be detected by a doctor’s examination.

Until puberty, the symptoms of liver damage are in the foreground, and a slight breakdown of red blood cells is also possible. Neurological progression usually only occurs after the age of 10.

Diagnostics: blood values ​​and further examinations

If Wilson’s disease is suspected, various laboratory values ​​can be determined as part of the diagnosis. This includes the following values:

  • Caeruloplasmin in the blood serum (transport protein for copper and a critical balancing factor in iron and copper metabolism)
  • Copper concentration in blood serum
  • Copper concentration in the collected urine over 24 hours

An MRI of the brain can also be done to show the copper deposits. In unclear cases, liver samples can also be taken to determine the amount of copper.

In addition, siblings and children of affected persons should be examined for defects in the Wilson gene. Inheritance is autosomal recessive. This means that only people get sick whose parents both carry a corresponding genetic defect and have both passed it on. The parents do not necessarily have to be ill themselves.

 

Treatment of Wilson’s disease: is Wilson’s disease curable?

Wilson’s disease cannot be cured because it is a genetic disease. If left untreated, the disease continues to progress and is usually fatal after four to eight years.

However, the symptoms can be treated well. Life expectancy is not shortened if therapy is started early and treatment is continued throughout life.

If symptoms appear in those affected, therapy is usually started with so-called chelating agents. These drugs form complexes with the copper, making the copper excretable by the kidneys. So, you increase the excretion of copper through the kidneys and thus prevent its accumulation in the organs.

Therapy with zinc salts is recommended for pregnant women and those affected without symptoms. These prevent copper absorption via the intestines and thus reduce the copper content in the body.

Furthermore, regular check-ups should be observed, and attention should be paid to a low-copper diet.

The last option is a liver transplant if severe liver damage has already occurred as a result of Wilson’s disease.

 

 

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