Shining Light on Wilson's Disease: Causes, Symptoms, and Treatment

Gastro Science | Posted on 02/23/2024 by Dr. B D Soni

Introduction 

Wilson's disease is a rare but severe genetic disorder determined by the body's inefficiency in metabolizing copper correctly. As a result, it leads to the accumulation of toxic copper in various organs, mainly in the liver and brain. Regardless of its rarity, Wilson's disease poses substantial health risks if the treatment is delayed for a longer period. It is vital to understand its causes, symptoms, diagnosis, and treatment options for proficient management and enhanced results for those affected by this condition. 

If you suffer from this condition, you must book an appointment with Best gastroenterologist in Jaipur at CK Birla Hospitals, Jaipur for better understanding and management. Further, for your comprehension, we will discuss this problem in this blog profoundly. However, kindly note that this information is only research-based and we don’t interfere with the doctor’s consultation. 

What is Wilson's Disease?

Wilson's disease, also known as hepatolenticular degeneration, is an inherited disorder caused by mutations in the ATP7B gene. This gene produces a protein that transports excess copper out of cells, primarily in the liver. When this protein is defective, copper accumulates in the liver and spills into the bloodstream, leading to copper build-up in other organs, including the brain and eyes.

Since Wilson is an inherited disease implying that it is passed on from parents to their children, it needs an imitation of the parent’s abnormal gene. It is impossible to predict who is vulnerable to this condition because parents frequently do not exhibit any symptoms to alert them to their abnormal gene-carrying status. So, you are at a higher risk if you have other close relatives who have this condition.

What are Wilson’s disease symptoms?

Wilson’s disease varies from individual to individual and is present at birth, but the symptoms don’t occur till the time of amalgamation in the brain, eyes, or other organs. Patients with Wilson’s disease usually experience symptoms between the ages of 5 and 40. However, some individuals might develop the symptoms at a younger or older age. Here are some of the common symptoms: 

• Fatigue 
• Weakness
• Abdominal pain and swelling
• Jaundice (yellowing of the skin and eyes)
• Kayser-Fleischer rings (copper deposits in the cornea)
• Neurological symptoms like tremors, difficulty speaking or swallowing, and involuntary movements
• Behavioral changes such as mood swings, depression, or psychosis
• Liver-related issues, such as cirrhosis or hepatitis
• Menstrual irregularities in females

What are Wilson’s disease causes? 

One of the primary causes of Wilson’s disease is genes that are passed onto children from parents. If the person is carrying one affecting, not only the person will be affected by the condition, but he/she will be a carrier. It means passing the affected gene to generations. Here are some reasons identified for Wilson’s disease:

• Genetic mutations in the ATP7B gene
• Autosomal recessive inheritance pattern (both parents must carry a mutated gene for the child to develop the disease)
• Environmental factors, such as excessive copper intake or exposure to certain medications that interfere with copper metabolism

How is Wilson’s disease diagnosed?

The diagnosis of Wilson’s disease is difficult as its symptoms are usually like other liver problems like hepatitis. Also, the symptoms can happen after a while. Behavioral changes that appear slowly can be mainly complex to link to Wilson’s disease. Healthcare professionals depend on the symptoms and test outcomes to confirm the diagnosis. Here are some of the tests and steps involved in Wilson’s disease diagnosis:

Diagnosing Wilson's disease can be challenging due to its varied symptoms and rarity. However, several tests and procedures can aid in its diagnosis:

• Blood tests: They help in measuring levels of ceruloplasmin, copper, and liver enzymes
• Urine tests: These tests help identify elevated copper levels in the urine
• Liver biopsy: With this test, doctors can examine the liver tissue for copper accumulation and signs of damage
• Genetic testing: With these tests, mutations in the ATP7B gene can easily be detected
• Imaging studies: It involves ultrasound, MRI, or CT scans to evaluate liver and brain abnormalities

What are the options available for Wilson’s disease treatment?

The primary goal of treating Wilson's disease is to lower copper levels in the body and avert further organ damage. Healthcare professionals usually prescribe medications known as copper-chelating agents. These medications connect themselves to copper and as a result, organs begin releasing the copper into the patient’s bloodstream. Eventually, the kidneys initiate the process of filtering the copper and releasing it into the urine. With the involvement of the right treatment options, it becomes easier to stop copper from building up again. Here are the options for treating Wilson’s disease: 

• Copper chelation therapy: It involves the use of medications such as D-penicillamine or trientine to bind and remove excess copper from the body
• Zinc therapy: Doctors recommend involving zinc supplements to inhibit copper absorption in the intestines
• Liver transplantation: For patients with severe liver damage or failure who are not responding to other treatments, liver transplantation is required as a treatment option
• Symptomatic treatment: Managing symptoms such as tremors or psychiatric issues with medications or therapy is important

Conclusion

In conclusion, Wilson's disease is an intricate condition that needs comprehensive management that involves medical, dietary, and psychological interventions. Initial diagnosis and immediate treatment are important to prevent irreversible organ damage and improve the quality of life for patients with this condition. With constant advancements in medical research and improved awareness, there is hope for enhanced outcomes and a brighter future for people who are affected by Wilson's disease.

FAQ -

 

How rare is Wilson's disease?

Wilson’s disease is a rare problem, however, the patients become carriers with the affected gene increasing the probability of passing the gene to generations. 

Is Wilson's disease dominant or recessive?

Wilson’s disease is an outcome of an inherited gene called ATP7B and is an autosomal recessive disorder. It implies that both parents are required to pass this abnormal gene to the child. It is also identified that people having one abnormal gene don’t show any signs, but are believed to be carriers of this disease. 

Is Wilson's disease fatal?

Wilson’s disease is life-threatening if not treated on time, however, no cure is available for this condition at present but is manageable with medications, chelation therapy, and eating copper-rich foods.