Wilson’s disease is a rare hereditary disease characterized by the accumulation of excessive amounts of copper in tissues and organs, which leads to various disorders of the liver, nervous system, mental state and musculoskeletal system. Due to the multitude of symptoms and the long-term nature of the disease, diagnosing Wilson’s disease is a difficult process.
The disease is associated with excessive copper accumulation in organs and tissues, especially the liver and central nervous system. This leads to dysfunction of these organs, as well as vision, kidneys, internal glands, heart and bone tissue due to the toxic effects of copper.
Symptoms of Wilson’s disease
Wilson’s disease is characterized by a combination of symptoms of liver damage, neurological and psychiatric disorders. The liver damage, which is often long-lasting, can lead to cirrhosis without treatment. The first signs of liver damage may be dyspeptic, decreased body weight, liver enlargement, subcostal pain, jaundice and dark urine. Occasionally, low white blood cell and platelet counts can cause bleeding from the gums and nose.
Patients with Wilson’s disease have 10 times the concentration of copper in the brain and cerebrospinal fluid compared to healthy individuals. Neurologic symptoms may be gradual and then suddenly worsen and become dominant. These may include sprawling tremor of the limbs, handwriting changes, head tremors, speech impairment and memory impairment – classic signs of extrapyramidal disorders.
Development of the disease
In Wilson’s disease, copper accumulates in the body gradually from birth. While the metal is not too much, there may be no symptoms at all (latent stage). As a rule, the first manifestations are noted at the age of 5-7 years: speech disorders, increased irritability, hyperactivity.
Without treatment, symptoms only increase, the disease enters the clinical stage. Manifestations will depend on the localization of excess copper and include fatigue, nausea, vomiting, abdominal pain, mental disorders.
Complications of Wilson’s disease
Complications of the disease are associated with long-term accumulation of copper in organs and tissues.
Liver cirrhosis is the gradual replacement of normal tissue with rigid fibrous (connective) tissue. It can develop asymptomatically for a long time, without treatment leading to the development of liver failure with subsequent “shutdown” of the organ.
Kidney stones are formed due to the deposition of excess copper in the tubules of the organ. They interfere with the normal work of the kidneys, worsen the process of filtration of urine and impede its excretion.
The Wilsonian crisis is one of the most dangerous complications. It is characterized by massive die-off of liver cells and rapid destruction of blood red blood cells (hemolytic anemia). Severe intoxication develops, which can lead to failure of vital organs: liver, kidneys, heart. A characteristic symptom is the so-called melting liver (the organ seems to shrivel up due to cell death).
Paranoid delirium is a severe neurological disorder in which a person feels that someone is chasing him, trying to kill or maim him. The delirium can be either intermittent or prolonged. Hallucinations are also possible.
When to see a doctor
If a person has unreasonable pain in the upper abdomen (especially on the left side), vomiting, general weakness, swelling of the legs, jaundice and itching of the skin, it is necessary to make an appointment with a general practitioner or gastroenterologist as soon as possible.
In addition, you should consult a specialist if your hands begin to tremble, there are periodic problems with speech, increased anxiety, auditory and visual hallucinations. As a rule, with such symptoms it is recommended to consult a general practitioner or neurologist.
Treatment
There is no complete cure for Wilson’s disease, but therapies have been developed to help patients live a normal life.
Conservative treatment
A lifelong intake of medications that remove copper from the body is prescribed. Such drugs can also lead to a decrease in the level of vitamin B6, so it is usually prescribed in addition.
The doctor may also prescribe zinc preparations, which prevents the absorption of copper in the intestine. This treatment helps to reduce symptoms and prevent further organ damage.
Liver transplant
Liver transplantation is a last resort used when normal tissue has been almost completely replaced by fibrous tissue and the organ cannot function or other treatments do not work.
Typically, the liver is taken whole from a deceased donor or part of the organ is transplanted from a living donor.
Diet in Wilson’s disease
Diet therapy is an important part of treatment. All patients with Wilson’s disease are recommended to change their diet to reduce the intake of copper from foods.
Foods rich in copper are:
- mushrooms,
- crustaceans,
- shellfish,
- nuts,
- chocolate,
- liver and other by-products.
In addition, you should avoid drinking water with copper impurities, do not store food in copper utensils, and do not eat or drink from them.
Prognosis and prevention
It is impossible to prevent the disease, but it is possible to detect it at an early stage, when organ damage has not yet reached critical values.
The prognosis of the disease is favorable, but only if you follow the diet and lifelong intake of drugs prescribed by the doctor.
If any of the blood relatives have been diagnosed with Wilson’s disease, it is recommended to take a molecular genetic study, because the pathology can be asymptomatic for a long time.
Conclusion
Wilson’s disease is a serious but controllable condition where early detection and treatment is essential. Symptoms can be diverse and affect different systems of the body, so at the first signs of disorders of the liver, nervous system or psyche, it is necessary to consult a doctor. With timely diagnosis, constant monitoring of the level of copper in the body, compliance with diet and lifelong therapy, patients can lead a full life. Particular attention should be paid to the examination of relatives, as early detection of the hidden course of the disease significantly improves the prognosis.
