Diagnosis of Wilson’s Disease Q&A

At Digestive Disease Care, our specialists recommend a thorough, multi-step approach to evaluate and diagnose Wilson’s Disease.

Clinical Evaluation:

• Review of medical and family history, including liver or neurological conditions.

• Assessment of symptoms such as jaundice, unexplained liver dysfunction, or abnormal liver enzymes.

• Focus on adults, where early signs may appear.

Laboratory Testing:

• Blood tests: Check ceruloplasmin levels (low in Wilson’s Disease).

• Urine tests: 24-hour urinary copper excretion to detect elevated copper levels.

• Liver function tests: Evaluate liver health and extent of damage.

Ophthalmologic Assessment:

• Slit-lamp eye exam to detect Kayser-Fleischer rings (copper deposits in the cornea).

• Particularly valuable in patients with neurological symptoms.

Liver Biopsy & Imaging:

• Liver biopsy: Direct measurement of copper content in liver tissue.

• Imaging: Ultrasound, CT, or MRI to assess structure and rule out other causes.

Genetic Testing:

• ATP7B gene testing to confirm diagnosis.

• Useful for screening at-risk family members.

Why Early Diagnosis Matters:

• Prevents progression to cirrhosis or neurological damage.

• Enables timely treatment and long-term management.

• Provides personalized care through a multidisciplinary approach.

Wilson’s Disease is a rare genetic condition that causes copper to accumulate in the body, particularly in the liver and brain. Because its early symptoms often resemble other digestive or neurological conditions, it can be challenging to recognize without specialized evaluation. At Digestive Disease Care, our specialists are trained to identify subtle warning signs that may prompt testing for Wilson’s Disease.

• Early signs often involve the liver, such as prolonged jaundice, persistent fatigue, abdominal pain, swelling, or abnormal liver function tests.

• These symptoms may mimic common liver conditions, which is why expert evaluation at Digestive Disease Care is important.

• Neurological or psychiatric changes may also appear, including tremors, speech or coordination problems, personality changes, mood swings, depression, or memory decline.

• Clinical clues may include Kayser-Fleischer rings (copper deposits around the cornea), unexplained low blood counts, or kidney issues.

Our specialists at Digestive Disease Care recommend targeted testing when these signs are present to confirm or rule out Wilson’s Disease. Early diagnosis and treatment are essential to prevent severe complications and improve long-term outcomes.

Wilson’s Disease can appear at almost any age, but symptoms most often develop between the ages of 5 and 35. In many cases, liver-related issues show up first in children or teenagers, while neurological or psychiatric symptoms may become noticeable in young adults. Early detection is important, as timely treatment can prevent serious complications.

By recognizing the early signs, doctors can initiate the right diagnostic tests and create a personalized treatment plan to manage copper buildup effectively and protect long-term health.

Wilson’s Disease is a rare but serious genetic disorder that leads to excess copper buildup in the body. Without timely treatment, the condition progressively damages the liver and eventually affects other organs such as the brain, eyes, kidneys, and heart. Recognizing what can happen if the disease is left untreated highlights why early diagnosis and management are critical.

• Untreated copper accumulation first damages the liver, leading to inflammation, cirrhosis, and possible liver failure.

• As copper spreads through the bloodstream, it begins to affect the brain and eyes.

• Neurological effects may include tremors, poor coordination, difficulty with speech or swallowing, mood changes, and memory problems.

• Eye changes such as Kayser-Fleischer rings (copper deposits around the cornea) may appear.

• If ignored, the disease can cause acute liver failure, severe neurological disability, anemia, kidney damage, and heart complications.

• In advanced cases, a liver transplant may become necessary.

With early detection and treatment at Digestive Disease Care, patients can manage copper buildup and avoid life-threatening complications. 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.