Wilson’s disease is a rare genetic condition that affects how your body processes copper, leading to excess copper accumulation in vital organs. This guide will help you understand the disease, its causes, symptoms, treatments, and how to manage living with it.
What is Wilson’s Disease?
Wilson’s disease is a genetic disorder that prevents your body from properly eliminating copper. Copper is a mineral found in many foods and is essential for good health in small amounts. However, in Wilson’s disease, copper builds up in the liver, brain, and other organs, causing damage over time. If left untreated, it can lead to serious complications such as liver failure and neurological problems.
Key Facts About Wilson’s Disease
Background
- Wilson’s disease was first described by Dr Samuel Alexander Kinnier Wilson in 1912.
- It is also known as hepatolenticular degeneration due to its effects on the liver (hepato-) and certain parts of the brain (lenticular nuclei).
Causes
- The condition is caused by mutations in the ATP7B gene, which plays a role in copper transport and elimination.
- These mutations lead to copper accumulation in the body because the liver cannot excrete excess copper into bile (a digestive fluid).
Incidence and Prevalence
- Incidence: Around 1 in 30,000 people are diagnosed with Wilson’s disease each year.
- Prevalence: Approximately 1 in 90 people carry one copy of the defective gene but do not develop symptoms unless they inherit two defective copies (one from each parent).
Who is Affected?
- Age: Symptoms usually appear between ages 5 and 35 but can occur at any age.
- Gender: Both males and females are equally affected.
- Ethnicity: Wilson’s disease occurs worldwide and affects all ethnic groups equally.
Geographic Distribution
- The condition has been reported globally, with no specific regions showing higher prevalence rates.
How Does Wilson’s Disease Impact You?
Symptoms
Wilson’s disease can affect different organs, leading to a range of symptoms:
Liver Symptoms (often the first signs):
- Fatigue or weakness.
- Jaundice (yellowing of the skin or eyes).
- Swelling in the legs or abdomen due to fluid retention.
- Easy bruising or prolonged bleeding.
Neurological Symptoms:
- Tremors or uncontrolled movements.
- Difficulty speaking or swallowing.
- Poor coordination or clumsiness.
Psychiatric Symptoms:
- Depression or anxiety.
- Mood swings or behavioural changes.
Other Symptoms:
- Kayser-Fleischer rings (a brownish ring around the cornea of the eye caused by copper deposits).
- Anaemia (low red blood cell count) or other blood disorders.
Living With Wilson’s Disease
Living with Wilson’s disease requires lifelong management to prevent complications such as liver failure or permanent neurological damage.
Life Expectancy
With early diagnosis and proper treatment, people with Wilson’s disease can live a normal life expectancy.
Managing and Treating Wilson’s Disease
Available Treatments
Treatment aims to reduce copper levels in your body and prevent further damage:
- Chelation Therapy: Medications such as penicillamine or trientine bind to excess copper in your body so it can be excreted through urine. These are often used as first-line treatments.
- Zinc Therapy: Zinc acetate reduces copper absorption from food by blocking its uptake in your intestines. This may be used alone for maintenance therapy after initial treatment.
- Dietary Changes: Avoid foods high in copper, such as shellfish, nuts, chocolate, mushrooms, and organ meats like liver.
- Liver Transplantation: In severe cases where liver damage is irreversible, a liver transplant may be necessary.
Ongoing Clinical Research
Research into Wilson’s disease focuses on improving treatments and understanding its genetic basis:
- Gene Therapy: Scientists are exploring ways to correct the ATP7B gene mutation responsible for Wilson’s disease.
- New Medications: Trials are underway for drugs that may offer better control of copper levels with fewer side effects.
- Biomarkers: Researchers are identifying biomarkers (measurable indicators) to improve early diagnosis and monitor treatment effectiveness.
Support Groups and Resources
If you have been diagnosed with Wilson’s disease, connecting with support groups can provide valuable information and emotional support:
- Wilson Disease Support Group UK (org.uk)– Offers resources for patients and families living with Wilson’s disease.
- European Association for the Study of the Liver (EASL) (eu)– Provides information on liver-related conditions.
- British Liver Trust (org.uk)– Offers support for individuals with liver diseases.