Wilson’s Disease: Examining Wilson’s Disease’s Genetics and Effects

The ability of the body to control copper levels is impacted by Wilson’s disease, a rare hereditary illness. Dr. Samuel Alexander Kinnier Wilson, who initially characterized the disease in 1912, is honored by the name of this condition. When copper builds up in different organs, especially the liver, and brain, Wilson’s disease occurs. If left untreated, this copper buildup can have serious health consequences.

The ATP7B gene, which codes for the production of the ATPase copper-transporting beta (ATP7B) protein, has undergone mutation, which is the root cause of the condition. This protein is vital for transferring extra copper from the liver and releasing it into the bile, ultimately excreted from the body. 

The extra copper may then accumulate in other organs and tissues, harming them over time. The primary organ damaged is the liver, which results in hepatocellular injury and the emergence of symptoms like jaundice, exhaustion, stomach discomfort, and hepatomegaly (enlarged liver). Without the right care, liver damage can worsen and turn into cirrhosis, a serious disease that inhibits liver function.

Additionally, accumulating copper can harm the central nervous system by passing across the blood-brain barrier. Tremors, trouble with balance and coordination, slurred speech, dystonia (involuntary muscle spasms), and even psychological disorders like sadness and anxiety are among the neurological signs of Wilson’s illness. These neurological symptoms might worsen over time and result in irreparable brain damage if addressed.

Although it can happen at any age, Wilson’s disease commonly shows symptoms between the ages of 5 and 35. It might be difficult to diagnose because the age at which symptoms first appear and their intensity can differ greatly between people. Genetic testing can assist confirm the diagnosis and is essential for preventing irreparable organ damage.

Causes of Wilson’s Disease

A mutation in the ATP7B gene is the cause of Wilson’s disease. A protein termed ATPase copper-transporting beta (ATP7B) is produced as a result of instructions provided by this gene. This particular protein is in charge of removing extra copper from the liver and releasing it into the bile, which is eventually expelled from the body through feces.

Copper transport is compromised as a result of the ATP7B gene mutation, which alters the protein’s typical function. Copper is not removed as a result, but rather builds up in the liver. The extra copper accumulates over time, releases into the bloodstream, and then damages various organs and tissues when it deposits there.

It is unclear why exactly this copper buildup arises and affects particular organs, in particular the liver and brain. The imbalance of copper metabolism is thought to be upset by poor copper transport, resulting in copper excess in the organs that are afflicted.

Wilson’s illness is an autosomal recessive ailment, which means that two copies of the defective gene (one from each parent) must be inherited for a person to be affected. Each child has a 25% chance of inheriting two copies of the faulty gene and getting Wilson’s disease if both parents have one copy of the gene.

It’s crucial to understand that a person does not automatically get Wilson’s disease just because they have the mutant ATP7B gene. Without displaying any symptoms or going through the disease themselves, some people may be carriers of the gene. The variability in the disease’s manifestation and severity is probably caused by the interaction of hereditary and environmental variables.

Effects of Wilson’s Disease

• Effects on the Liver: Wilson’s disease mostly affects the liver. Copper buildup in the liver can result in hepatocellular injury and inflammation, which can cause symptoms including hepatomegaly (enlarged liver), exhaustion, and jaundice (yellowing of the skin and eyes). Liver damage can develop into cirrhosis, a condition in which good liver tissue is replaced by scar tissue and causes reduced liver function if it is not addressed.

• Neurological Symptoms: Different neurological symptoms can be brought on by copper buildup in the brain and central nervous system. Tremors, balance issues, dystonia (uncontrollable muscle contractions), slurred speech, stiffness, and poor fine motor skills are a few of these that may be present. If neglected, neurological symptoms can deteriorate over time and result in severe impairment.

• Wilson’s disease can potentially have psychological effects and cause psychiatric symptoms. Changes in personality, depression, anxiety, irritability, mood swings, and even psychosis are some of these that may occur. Psychiatric symptoms, which may come before or after neurological indications, can be particularly difficult.

• Kayser-Fleischer Rings: The appearance of these rings is one telltale symptom of Wilson’s disease. These are copper deposits that encircle the cornea of the eye in the form of a golden-brown ring. Even in the early stages of the disease, Kayser-Fleischer rings are not always visible, but when they are, they are a strong indicator of Wilson’s disease.

• Other Organ Involvement: Although less frequent, copper accumulation can have an impact on other organs as well. The kidneys, heart, pancreas, and skeletal system may all suffer harm as a result. Renal tubular dysfunction, which causes the loss of vital nutrients like amino acids and glucose in the urine, can be a symptom of kidney issues.

Natural Remedies for Wilson’s Disease

• Balanced Diet: Wilson’s disease patients should follow a well-balanced diet. However, some copper-rich foods, like organ meats, shellfish, almonds, chocolate, and mushrooms, should be avoided or consumed in moderation. For individualized nutritional advice, it is essential to speak with a medical expert or a qualified dietitian.

• Foods High in Zinc: Eating foods high in zinc may help lessen the intestinal absorption of copper. Meat, fish, poultry, legumes, whole grains, and nuts are excellent sources of zinc. However, it’s best to avoid taking too much zinc because it might affect how well copper is absorbed and cause imbalances.

• Vitamin C: It has been proposed that vitamin C can help the body eliminate copper. The diet can contain foods high in vitamin C, such as citrus fruits, berries, kiwi, and leafy greens. High vitamin C supplement doses should be avoided, though, as they may encourage the release of copper from tissues and aggravate symptoms.

• Supplements made from plants: Milk thistle, turmeric, and dandelion are a few herbs and supplements that are thought to enhance liver function. However, there is no evidence to support their impact on copper metabolism in Wilson’s illness. Before utilizing any herbal remedies or supplements, it is imperative to speak with a healthcare provider because they may interact negatively with prescription drugs or have other unfavorable effects.

Symptoms of Wilson’s Disease

• Symptoms relating to the liver:

1. Jaundice: Yellowing of the skin and eyes as a result of liver damage.
2. Fatigue: Extremely feeling exhausted or weak.
3. Abdominal Pain: A feeling of discomfort or pain in the abdomen.
4. The liver is enlarged in hepatomegaly.

5. Easy Bleeding and Bruising: Liver disease might hinder blood clotting.

• Nervous System Symptoms:

1. Shaking or trembling of the hands, arms, legs, or other body parts without conscious control.
2. Unsteady movements, clumsiness, and balance issues are symptoms of coordination and balance issues.
3. Uncontrollable muscular contractions known as dystonia can cause aberrant postures or repetitive motions.
4. Speech that is slurred has poor articulation and has trouble pronouncing words clearly.
5. Rigidity: Muscle stiffness or inflexibility.
6. Difficulty difficulties swallowing as a result of poor muscular coordination.
7. Mood swings, impatience, and behavioral changes are all signs of personality changes.
8. Sadness, hopelessness, and worry are symptoms of depression and anxiety.

• Mental health symptoms

1. Hallucinations, delusions, and distorted thinking are symptoms of psychosis.
2. Problems with memory, attention, and problem-solving are symptoms of cognitive impairment.

• Kayser-Fleischer Rings: 

1. Due to copper deposits, golden-brown rings are seen around the cornea of the eye. They could have a brownish or greenish tinge to them.

Treatment Options for Wilson’s Disease

• The use of drugs that bind to copper and encourage its excretion from the body is the cornerstone of copper chelation therapy. D-penicillamine and trientine are the chelating drugs that are most frequently administered. These drugs make it easier for copper to be eliminated through the urine. To adjust the dosage and determine therapy success, regular monitoring of copper levels and liver function is required.

• Supplemental zinc can help prevent copper buildup by preventing dietary copper from being absorbed in the intestines. Supplements containing zinc acetate or zinc gluconate are frequently administered as maintenance therapy. In order to offer long-term management of copper levels, zinc therapy is frequently combined with chelation therapy.

• Dietary Modifications: To reduce the consumption of foods high in copper, a low-copper diet may be advised. Typically, this entails staying away from or eating less of items like organ meats, seafood, almonds, chocolate, and mushrooms. A customized meal plan that satisfies nutritional requirements while controlling copper intake should be created in collaboration with a certified dietitian with knowledge of Wilson’s disease.

• Liver transplantation: When medical therapy fails to manage copper levels or when there is severe liver failure, liver transplantation may be an option. A healthy liver from a donor is substituted for a sick liver during a liver transplant. This process can successfully get rid of the fundamental reason for copper buildup.

Types of Wilson’s Disease

• Symptomatic vs. Asymptomatic: Wilson’s illness can be divided into two groups according to whether it exhibits symptoms or not. Some people may have symptomatic Wilson’s disease, which manifests as signs of copper buildup in the liver, brain, and other organs. On the other hand, some people with the ATP7B gene mutation might be asymptomatic carriers and not have any symptoms of the condition.

• The age at which Wilson’s disease symptoms first appear can vary. The two main age ranges at which symptoms first appear are

1. The most common age group for the beginning of symptoms is adolescence or young adulthood. Normal onset of symptoms is between the ages of 12 and 25, including neurological, psychological, and liver-related issues.

2. Wilson’s disease can occasionally manifest in children, often between the ages of 6 and 14 years old. Hepatomegaly and jaundice, as well as neurological problems, are examples of liver-related symptoms that can affect children.

Preventions for Wilson’s Disease

• Genetic counseling can offer helpful information and direction if there is a family history of Wilson’s illness or if a person is known to be a carrier of the ATP7B gene mutation. A genetic counselor can advise on family planning strategies and determine the likelihood of passing the defective gene to future generations.

• Family Screening: To find out if they have the ATP7B gene mutation, family members of people with Wilson’s disease may benefit from genetic testing. Knowing which family members are carriers can aid in the early discovery and treatment of the illness in future generations.

• Early Diagnosis and Treatment: Wilson’s disease must be identified and treated as soon as possible in order to avoid or significantly reduce organ damage. It is important to seek medical assistance as soon as Wilson’s disease symptoms, such as unexplained liver issues or neurological symptoms, appear in order to have a correct evaluation and diagnosis.

• Treatment Compliance: After receiving Wilson’s disease diagnosis, it’s important to follow the recommended treatment schedule. Usually, this entails taking prescription drugs, such as copper-chelating agents and zinc supplements, as well as adhering to dietary guidelines. To guarantee treatment success, copper levels, and liver function must be regularly monitored.

• Education and Awareness: It’s important to raise awareness of Wilson’s illness among medical professionals, family members, and the general public. Early Wilson’s disease diagnosis and treatment beginning can result from recognizing the disease’s early indications and symptoms.

*Disclaimer: This article is for informational purposes only and should not substitute professional medical advice. Please consult a healthcare professional for a thorough evaluation of your symptoms and appropriate treatment.

Author Information

Author Contribution: Reviewed by Dr. Ram Reddy, MD – General Physician, and Rajeshwar Rao, Pharm D.