Wilson’s disease is an inherited genetic disorder affecting the body’s ability to manage copper. This leads to the metal accumulating in organs, especially the liver and brain, causing a range of health issues. The condition arises from mutations in the ATP7B gene, which is responsible for transporting excess copper out of the body.
Prevalence and Genetic Frequency
Wilson’s disease is a rare disorder, with global prevalence—the total number of people living with the condition—historically estimated at 1 in 30,000 to 40,000 individuals. The incidence rate, which measures new cases, is similarly estimated at around 1 per 30,000 live births. These figures are based on clinical diagnoses.
Recent genetic analyses suggest the actual prevalence might be higher. Molecular genetic screening studies have calculated a frequency of 1 in 7,000 people. This discrepancy indicates that many cases may go undiagnosed or are misdiagnosed due to the wide variety of symptoms.
Wilson’s disease is an autosomal recessive disorder, meaning an individual must inherit two copies of the mutated ATP7B gene—one from each parent—to develop the disease. People who inherit only one copy are known as carriers. They do not exhibit symptoms but can pass the gene to their offspring, and the carrier frequency is estimated to be about 1 in 90 people.
Demographic and Geographic Distribution
The signs of Wilson’s disease can manifest at any point in life but most commonly appear between the ages of 5 and 35, with a majority of patients presenting between 10 and 30 years old. Diagnosis in early childhood or later in adulthood is less common but does occur. The disease affects males and females in roughly equal numbers.
While Wilson’s disease is found globally, its prevalence is not uniform. Some isolated communities or geographic regions report a higher frequency, often attributed to a “founder effect.” This occurs when a gene mutation in a small group of founders becomes more common in their descendants. For instance, higher prevalence rates are documented in Sardinia, Italy, and the Canary Islands.
The disease is also noted to be more common in some parts of Asia. Studies in Chinese and Korean populations have reported prevalence rates of 5.87 per 100,000 and 3.8 per 100,000, respectively. These regional variations are linked to the distribution of specific ATP7B gene mutations among ethnic groups.
Statistical Breakdown of Clinical Presentations
Hepatic (liver-related) symptoms are the most common initial presentation of Wilson’s disease. Approximately 40% to 50% of individuals first seek medical attention for issues related to liver dysfunction. These can range from acute liver failure to chronic liver disease that mimics other more common hepatic conditions.
Neurological symptoms are the second most frequent presentation, accounting for 30% to 40% of initial diagnoses. These can include tremors, difficulty speaking, and problems with coordination. Psychiatric disturbances, such as depression, behavioral changes, or psychosis, can also be the first sign, sometimes occurring with neurological issues.
A smaller percentage of individuals are diagnosed while still asymptomatic. This often happens through family screening programs initiated after a close relative, such as a sibling, is diagnosed with the disease. This proactive testing allows for identification of the genetic defect before significant organ damage can occur.
Prognosis and Treatment Efficacy Rates
The prognosis for Wilson’s disease is directly tied to early diagnosis and treatment. When diagnosed before substantial organ damage occurs, the long-term outlook is positive. Lifelong therapy is effective at managing copper levels, preventing disease progression and allowing individuals to lead a normal life.
Treatment primarily involves chelating agents, which are medications that bind to copper and help remove it from the body, or zinc salts, which prevent the absorption of copper from the diet. One study reported that 51% of compliant patients improved with therapy, while another 11% remained stable. Without treatment, the disease is fatal due to progressive liver failure or neurological damage.
For patients who present with acute liver failure, a liver transplant may be the only life-saving option. This procedure corrects the underlying genetic defect, as the new liver can properly process copper. Timely medical therapy can often prevent the severe liver damage that makes a transplant necessary. Following a successful transplant, survival rates are high.