The Wilson’s disease (WD) is a rare disease that can manifest as liver, neurological or disease psychiatric to. It is inherited from both the father and the mother (autonomous recessive) due to mutations in the ATP7B gene, located on chromosome 13, which encodes a protein necessary to eliminate excess copper from the interior of the liver cell to the bile.
This causes the toxic accumulation of copper from the diet in the body. It mainly affects the liver and brain. Wilson’s disease affects between 10 and 30 cases per million inhabitants. Symptoms appear in most patients between the ages of five and 40.
Causes of Wilson’s disease
Mutations in the ATP7B gene
Under normal conditions, most of the copper ingested (2-5 milligrams/day) is eliminated through bile and only a small amount through urine. Specific recommendations depend on age, sex, and factors such as pregnancy.
Copper is an essential trace element present in all tissues of the body and that works in the formation of red blood cells in addition to promoting the good health of blood vessels, nerves, the immune system and bones. It also helps the absorption of iron.
Those affected by Wilson’s disease have a decrease in bile excretion due to a genetic mutation, which produces toxic accumulation of copper in the body that can damage the liver, brain, kidneys, and even the eyes. More than 300 mutations of the ATP7B gene implicated in the development of Wilson’s disease have been described.
Symptoms of Wilson’s disease
Hepatic, neurological and psychiatric
The signs or symptoms of Wilson’s disease can be of hepatic, neurological, or even psychiatric origin.
– Fatigue.
– Loss of appetite.
– Abdominal discomfort.
– Jaundice.
– Alteration of blood coagulation.
– Alteration of consciousness.
– Anemia.
– Speech alterations.
– Stuttering.
– Tremors.
– Difficulty swallowing.
– Difficulty walking.
– Lack of motor coordination.
– Rigidity.
– Muscle spasms.
– Loss of facial expression.
– Depression.
– Impulsive behaviors.
– Phobias.
Diagnosis of Wilson’s disease
Kayser-Fleischer ring and other tests
The clinical diagnosis is based on the physical examination, the description of symptoms and, first of all, the ocular analysis of the existence or not of the Kayser-Fleischer ring, a dark strip of golden to greenish color located on the periphery of the cornea.
Other tests are:
– Cupruria. 24-hour urine analysis that shows values greater than 100 micrograms in those 24 hours.
– Serological analysis to determine serum copper. If the patient between 10 and 20 milligrams/deciliter can be a patient or a carrier.
– If these tests are not conclusive, a liver biopsy will be performed to determine if there is WD when values greater than 200 micrograms/gram of dry liver tissue appear.
Wilson’s disease treatment and medication
Prevent copper buildup
Subsequent treatment consists of preventing copper from accumulating again. The reference is chelating medications, which bind copper and then cause the organs to release it into the bloodstream to be filtered by the kidneys and released through urine. When liver damage is severe, a liver transplant may be necessary.
Prevention of Wilson’s disease
There is no
There are no measures to prevent Wilson’s disease, but early diagnosis through genetic analysis and early treatment, even during pregnancy, allow those affected to maintain, in general, good health throughout life. It is key:
-Eat a diet low in copper (do not eat liver, organ meats including pâtés, chocolate, walnuts and other nuts, mushrooms and fungi such as mushrooms, legumes, mollusks and shellfish). Drink water with 0.2 parts per million (ppm) of copper. It is advisable to have your home water analyzed to find out its copper content. Eating a diet completely free of copper is impossible; the fundamental thing in this disease is medication, which is for life.
– Avoid vitamin supplements that contain copper.
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