Wilson Disease
Information about the causes, symptoms, and treatment of excess copper accumulation in the body.
Symptoms and causes
Wilson disease is a hereditary disorder that prevents the body from eliminating excess copper properly, leading to its accumulation in various organs and causing toxicity. The most common deposition sites are the liver, brain, or eyes, although it can also damage the kidneys.
In healthy individuals, the liver releases unneeded copper through bile, which is then eliminated in the stool. However, in patients with Wilson disease, copper is released directly into the bloodstream, making it easier to reach vital organs.
Wilson disease is a rare condition (estimated incidence of 1 in 30,000 individuals) that, if diagnosed and treated promptly, does not reduce life expectancy. Without appropriate treatment, however, neurological damage can occur, which can be fatal.
Symptoms
Neurological and hepatic symptoms are the most common manifestations of this disease. They may appear simultaneously or at different times and with varying severity.
Although patients are born with the condition, Wilson disease symptoms usually appear between the ages of 5 and 35. The most frequent symptoms are:
- Kayser-Fleischer ring: a greenish-brown ring around the cornea, appearing when copper accumulates in Descemet's membrane, the deepest layer of the cornea that provides support.
- Anterior subcapsular cataract: also called sunflower cataract because of its petal shape and yellowish or greenish color due to copper.
- Jaundice: yellowing of the skin.
- Loss of appetite
- Ascites: fluid accumulation in the peritoneal cavity (abdomen).
- Edema: fluid accumulation mainly in the legs.
- Hepatomegaly: enlargement of the liver.
- Splenomegaly: enlargement of the spleen.
- Speech difficulties
- Ataxia
- Tremor
- Personality changes
- Seizures
Causes
Wilson disease is caused by a mutation in the ATP7B gene, which is responsible for copper metabolism. It is inherited in an autosomal recessive pattern, meaning that two defective copies (one from each parent) are required to develop the disease. Individuals with only one defective copy are carriers and can transmit the disease without developing it.
Risk Factors
The risk of developing Wilson disease is higher in individuals with a family history of the condition.
Complications
Wilson disease can cause liver, nervous system, or behavioral abnormalities. The most frequent complications are:
- Hepatic cirrhosis: scarring of liver tissue affecting its function.
- Acute liver failure
- Long-term neurological problems: tremors, involuntary muscle movements, unsteady gait, and speech difficulties often improve with treatment, but some patients may have persistent neurological issues.
- Kidney problems: kidney stones and abnormal amounts of amino acids in the urine.
- Mental health problems: personality changes, depression, irritability, bipolar disorder, or psychosis.
- Hematological issues: destruction of red blood cells (hemolysis), leading to anemia and jaundice.
Prevention
Wilson disease cannot be prevented, as it is a hereditary condition.
Which Doctor Treats Wilson Disease?
Treatment requires a multidisciplinary approach addressing all symptoms. In addition to General and digestive system surgery specialists, ophthalmology, neurology , and clinical psychology are involved.
Diagnosis
Diagnosing Wilson disease is challenging because symptoms can mimic other liver function disorders. When suspected, the following tests are performed:
- Medical history review
- Detailed symptom analysis: even symptoms that seem unrelated, especially behavioral changes, are evaluated.
- Blood Tests and Urine Analysis: provide information about liver function, blood copper levels, and ceruloplasmin levels (a protein that binds copper in the blood), which are decreased in most patients (90%).
- Slit-lamp eye examination: to detect Kayser-Fleischer rings or sunflower cataracts.
- Liver Biopsy: examines a tissue sample for copper overload.
- Abdominal Ultrasound: assesses liver size and status, such as signs of cirrhosis.
- Genetic testing: a blood sample determines if there is an ATP7B gene mutation.
Treatment
Wilson disease has no cure. Treatment focuses on reducing blood copper levels. This includes dietary modifications and medications:
Dietary copper restriction: Avoid foods high in copper, such as:
- Legumes
- Nuts: almonds, cashews
- Whole grains
- Shellfish: oysters, clams, mussels, lobster
- Fish: swordfish, salmon, trout, mackerel
- Cocoa
- Seeds: sesame, sunflower, flax
- Potatoes
- Mushrooms
Medications:
- Copper chelators: penicillamine, trientine, which enhance copper elimination. Must follow specialist instructions due to potential severe side effects.
- Copper absorption inhibitors: zinc acetate.
Severe liver damage with impaired function may require a Liver transplant.
