Wilson’s Disease Treatment Specialist Q&A

Wilson’s Disease is a rare genetic disorder that causes the body to accumulate excess copper instead of eliminating it properly. This buildup occurs because of a mutation in the ATP7B gene, which interferes with copper transport and removal. Over time, copper collects in vital organs such as the liver, brain, eyes, and kidneys, leading to progressive damage if not treated.

The symptoms of Wilson’s Disease vary depending on where copper accumulates. In the liver, it can cause jaundice, fatigue, abdominal swelling, or even liver failure. When the brain and nervous system are affected, patients may experience tremors, poor coordination, slurred speech, mood changes, or depression. A distinctive sign is the Kayser-Fleischer ring, a golden-brown ring around the cornea visible during an eye exam.

Diagnosis is made through blood and urine tests, liver biopsy, and genetic testing. With early detection and lifelong treatment using copper-chelating medications and dietary adjustments, many patients can manage the disease and prevent severe complications.

Symptoms of Wilson’s Disease

Wilson’s Disease is a genetic disorder that leads to excess copper buildup in the body, affecting vital organs such as the liver, brain, and eyes. Because symptoms can appear slowly and mimic other health problems, the condition is often difficult to diagnose in its early stages. Recognizing the key signs is important for timely evaluation and treatment.

Liver-Related Symptoms:

• Fatigue and weakness

• Jaundice (yellowing of the skin and eyes)

• Abdominal pain or swelling

• Fluid buildup in the legs or abdomen

• Signs of hepatitis or cirrhosis

Neurological Symptoms:

• Tremors or shaking hands

• Difficulty with speech (slurred speech)

• Poor coordination and balance problems

• Muscle stiffness or uncontrolled movements

• Migraines or frequent headaches

Psychiatric Symptoms:

• Personality changes, mood swings, or irritability

• Depression or anxiety

• Memory or concentration issues

Eye Symptoms:

• Kayser-Fleischer rings (golden-brown rings in the cornea)

Wilson’s Disease can affect the brain when copper builds up in the central nervous system. This accumulation damages brain tissue and disrupts normal neurological function. Many individuals develop movement-related symptoms such as tremors, stiffness, poor coordination, or difficulty walking. Speech problems, including slurred or slow speech, are also common.

In addition to physical effects, copper buildup may cause psychiatric changes. Patients can experience mood swings, depression, anxiety, irritability, or even changes in personality. Some may have problems with memory, focus, or decision-making. These symptoms are often mistaken for other neurological or psychological conditions, which can delay diagnosis.

Early detection and treatment are critical because brain-related symptoms may improve or stabilize with proper therapy. With lifelong copper-chelating medications and careful medical management, many people can control neurological complications and maintain a good quality of life despite Wilson’s Disease.

Initial Diagnosis:

• Frequent monitoring is required during the first months of treatment to assess copper levels and treatment response.

Routine Follow-Ups:

• Most patients need checkups every 3–6 months with their specialist.

Laboratory Tests:

• Regular blood tests (liver function, copper, ceruloplasmin levels) and urine copper tests are recommended.

Liver Health:

• Periodic liver imaging or biopsy may be done to evaluate damage or monitor for cirrhosis.

Neurological & Psychiatric Assessment:

• Ongoing evaluations for movement, coordination, mood, and cognitive function.

Medication Monitoring:

• Copper-chelating drugs or zinc therapy require close monitoring to adjust dosage and avoid side effects.

Long-Term Care:

• Even if symptoms improve, lifelong follow-up is necessary to prevent copper buildup and complications.

Wilson’s Disease treatment is available at Digestive Disease Care. For more information, contact us today or schedule an appointment online. We have convenient locations to serve you in Babylon NY, East Setauket NY, Forest Hills NY, Jericho NY, Lake Success NY, Melville NY, Mineola NY, Massapequa NY, New Hyde Park NY, and Riverhead NY.