Wilson’s disease is a genetic copper storage disorder based on a genetic defect. Copper can no longer be excreted regularly, and deposits induce severe damage. The liver, eye and brain are mainly affected. If left untreated, Wilson’s disease is fatal.
What is Wilson’s disease?
Wilson disease is a relatively rare, hereditary, metabolic disorder and is also known as “copper storage disease,” “Wilson disease,” or “pseudosclerosis Westphal.” Wilson’s disease was named after the British neurologist Samuel A. K. Wilson (1878 – 1937). Due to one or more gene mutations, copper metabolism in the liver of affected individuals is disturbed. Absorbed copper cannot be removed naturally, binds and is deposited in the organism. The course of the disease is characterized by a variety of symptoms, which are mainly manifested in liver damage and neurological abnormalities. The frequency of the genetic defect is approximately 1:30,000.
Causes
The cause of Wilson disease takes place through a genetic defect on the 13th chromosome. The so-called “Wilson gene” is inherited in an autosomal recessive manner, whereby the father and/or mother themselves do not have to have the disease, but are merely carriers of the defective hereditary trait. Wilson’s disease occurs more frequently in marriages between relatives. If a person suffers from Wilson’s disease, there is a disorder of the copper metabolism, since the transport pathway of copper from the liver to the bile is impaired. Excess copper ingested with the daily diet cannot be transported by the liver cells into the bile and excreted with the stool, but is deposited in the liver. There it causes inflammatory reactions that can lead to cirrhosis of the liver. Furthermore, the deposited copper travels from the liver to the entire organism. Copper deposits mainly affect the liver, the cornea of the eye, the brain and the central nervous system. The excessive copper level damages the affected cells and restricts them in their tasks and function.
Symptoms, complaints, and signs
Wilson disease can cause a wide variety of symptoms, most of which are nonspecific. These include fatigue, loss of appetite, exhaustion, depression, mood swings, abdominal pain, the frequent occurrence of bruises, or problems with body coordination. How the disease manifests itself in individual cases depends on which organs and areas of the body are affected by the disturbed copper metabolism. In most cases, the first symptoms of the disease appear between the ages of 13 and 24. However, this can also be the case significantly earlier or later. The consequences of liver damage are often already apparent in young patients. This can lead to enlargement of the liver, hepatitis, fatty degeneration of the liver and, in advanced stages, cirrhosis of the liver. Wilson’s disease can lead to yellowing of the skin and mucous membranes (jaundice). The eyes are also frequently affected by the disease. A characteristic feature of Wilson’s disease is the so-called Kayser-Fleischer corneal ring. This is a conspicuous change in the cornea, which is noticeable by a golden-brown to greenish ring around the iris. It also often results in night blindness, strabismus, and inflammation of the optic nerve. Neurological symptoms similar to Parkinson’s disease or Huntington’s disease often occur, including muscle stiffness, uncontrolled muscle movements, tremors, slowed movements, epileptic seizures, and writing and speaking difficulties.
Diagnosis and course
In general, Wilson disease is divided into the juvenile type, in which the disease begins between the ages of 5 and 20 and progresses rapidly to death if untreated, and the adult type, in which Wilson disease is not diagnosed until between the ages of 20 and 40 and is characterized by a slower course. In childhood, hepatic symptoms (gastrointestinal disorders, liver damage) often precede the final diagnosis. In adulthood, the first symptoms are mainly neurological deficits (speech and swallowing disorders, tremor) and psychiatric abnormalities (psychosis, behavioral disorder). Frequently, the clinical picture is manifested relatively early by disturbances of the liver. In patients with neurological symptoms, ophthalmologic examination with a slit lamp often reveals the Kayser-Fleischer corneal ring, which is caused by copper deposits in the eye.A final diagnosis is obtained by blood tests in which the copper metabolism is examined. If a low serum coeruloplasmin value is present in combination with an increased copper excretion value in the urine, Wilson’s disease is confirmed. Additional certainty is obtained by intravenous copper testing, penicillamine load testing, and genetic testing.
Complications
Wilson disease causes the patient to experience various symptoms and limitations. In most cases, however, the disease negatively affects the brain, liver, and eyes. Those affected suffer primarily from a fatty liver and thus, as the disease progresses, also from cirrhosis of the liver. There is a trembling of the hands and a general feeling of unsteadiness and forgetfulness. The patient’s everyday life is significantly restricted by Wilson’s disease. During the night, patients can hardly see anything, although visual disturbances may also appear during the day. Due to these complaints, it is not uncommon for psychological discomfort and depression to occur. Behavioral disturbances can also occur as a result of the disease. Furthermore, there are also swallowing difficulties, which make the usual intake of liquids and food much more difficult. The disease also negatively affects the coordination and orientation of the affected person. Treatment of the disease can be carried out relatively easily with various medications. There are no particular complications and the symptoms can be well limited. With successful treatment of Wilson’s disease, there is also no reduction in life expectancy.
When should you see a doctor?
The signs of Wilson’s disease are varied and affect different areas. If there are physical complaints such as abdominal pain, a general feeling of malaise, or a decrease in performance, a visit to the doctor is necessary. If there is swelling in the upper part of the body, changes in respiratory activity or a noise during digestion, there is an irregularity that needs to be investigated and clarified. Changes in the appearance of the skin, the appearance of pimples or the formation of bruises are signs of an existing disease. If physical movements can no longer be coordinated as usual, the affected person needs medical help. Various tests are necessary to clarify the cause. If, in addition to the physical irregularities, there are also emotional or mental stresses, a visit to the doctor is also recommended. If there are noticeable fluctuations in mood, an aggressive demeanor or a withdrawal from social life, a doctor should be informed of the observations. If depressive states, a loss of well-being as well as general joy of life occur, there is a need for action. If the symptoms persist for several weeks or months, a doctor or therapist should be consulted. If everyday obligations can no longer be fulfilled due to the present complaints, there is an acute need for action.
Treatment and therapy
To counteract copper retention, any form of therapy for Wilson’s disease aims to eliminate copper from the body and remove stored copper. Because Wilson’s disease is based on a genetic defect, consistent and, above all, lifelong therapy is necessary. The disease is not curable, but can be treated with suitable therapy concepts. Even during pregnancy, an existing therapy must not be discontinued, as this can lead to a renewed attack of the disease with subsequent liver damage. Copper-binding drugs, so-called chelating agents, are used to eliminate stored copper or to maintain the copper balance. D-penicillamine, trientine or ammonium tetrathiomolybdate are frequently used. Treatment with zinc salts binds copper in the intestinal mucosa and prevents it from entering the organism. Zinc salt treatments are often prescribed in combination with D-penicillamine. Foods that are high in copper (chocolate, whole grain products, mushrooms) should be avoided by following a low copper diet as a supplement. Taking vitamin E and avoiding copper contact (cookware, copper plumbing) are useful adjunctive measures. If severe liver damage is already present as a result of the disease, liver transplantation is the last form of treatment. The procedure involves many risks and requires lifelong immunosuppression.Innovative treatments, such as liver cell transplants, are already being tested in animal studies.
Prospect and prognosis
If left untreated, Wilson disease is always fatal. Death usually occurs from liver or kidney failure and can occur within two to seven years. This is likely if the condition manifests in early childhood. On the other hand, another course, which knows mainly a neurological involvement, can be fatal only after decades. However, a lethality of almost 100 percent applies to all affected persons without treatment. If treatment is started early, Wilson’s disease can be almost completely compensated. There is no need to fear damage from the genetic condition, nor is life expectancy limited. A long and healthy life with Wilson’s disease is possible thanks to medical care. Even in patients who have already suffered damage, this is partially reversible with therapy. This applies to recent neuronal damage as well as to liver damage. Symptoms can be improved in a good three-quarters of all patients. People who have liver problems as a result of Wilson’s disease can be better treated than those with neurological symptoms. However, copper storage disease is not curable and is also hereditary. Family members should be screened for this early.
Prevention
Prevention of the disease is not possible because it is a genetic defect. If Wilson’s disease occurs in a relative, it is advisable to get tested so that any therapeutic measures can be taken in time. If the diagnosis is made very early, any damage that may occur can be suppressed with medication. Even those not directly affected can be carriers of the disease as parents.
Follow-up
In most cases, only a few and also only limited measures of direct aftercare are available to the affected person in Wilson’s disease. The affected person should therefore ideally contact a physician early on to prevent further complications and symptoms from occurring. The sooner a doctor is consulted, the better the further course of the disease usually is. Due to the genetic origin of the disease, it cannot be completely cured. Those affected should therefore seek genetic testing and counseling if they wish to have children, in order to prevent the recurrence of the disease. Most patients are usually dependent on taking various medications. The affected person should always observe the prescribed dosage and regular intake in order to alleviate the symptoms permanently and correctly. If there are any uncertainties or questions, a doctor should always be consulted first. Furthermore, patients with Wilson’s disease are always dependent on regular checks and examinations by a doctor. If there should be a surgical intervention in the life of the affected person, the disease must be mentioned in any case.
What you can do yourself
People suffering from Wilson’s disease must first and foremost change their diet. The goal of treatment is to eliminate copper from the body. This is accomplished by an appropriate diet rich in propellant substances. Typical digestive aids such as banana and asparagus have proved effective, as have special diuretic teas from the drugstore. In general, patients should drink plenty of fluids, ideally mineral water, herbal teas or spritzers. This must be accompanied by medication that binds the copper. These chelating agents can cause various side effects and interactions, which is why a doctor should be consulted regularly during therapy. If there is already severe liver damage, a liver transplant is necessary. After such an operation, the patient requires rest and bed rest. Regular visits to the doctor are also necessary. Drug treatment is usually also necessary. The therapy must be regularly adapted to the patient’s constitution. Since a severe course of the disease also represents an enormous psychological burden, the affected person usually requires therapeutic support. If desired, the psychologist can also establish contact with other affected persons or a self-help group and thus support the patient in coming to terms with the disease.
