Dr. Samriddhi Poyekar

Call: +91 8369754699 📍 Locations: Vashi Parel | Ghatkopar | Thane | Dombivli | Kalyan 🕒 Timings: Mon–Sat (As per clinic schedule)
Call: +91 8369754699 📍 Locations: Vashi | Parel | Ghatkopar | Thane | Dombivli | Kalyan 🕒 Timings: Mon–Sat (As per clinic schedule)

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Wilson Disease

Wilson disease is a rare inherited disorder in which excess copper accumulates in the body, primarily in the liver and brain. Normally, the liver removes excess copper, but a genetic defect in Wilson disease prevents proper elimination, causing copper buildup.

Early diagnosis and treatment can allow patients to lead normal lives. Most cases are diagnosed between ages 5 and 30

Symptoms

Symptoms appear once copper accumulates to harmful levels and vary by age:

  • Liver-Related Symptoms (common in children):
  • Jaundice (yellowing of skin/eyes)
  • Persistent fatigue and loss of appetite
  • Abdominal swelling
  • Anemia
  • Neurological & Psychiatric Symptoms (adolescents/adults):
  • Tremors, slow movements, poor coordination
  • Drooling, changes in speech, difficulty swallowing
  • Worsening handwriting and school/work performance
  • Emotional changes: depression, anxiety, mood swings
  • Wilson disease should be suspected in patients with unexplained liver, neurological, or psychiatric problems.

Diagnosis

Early diagnosis is crucial to prevent permanent liver or brain damage. Diagnosis is based on a combination of tests:

  • Blood tests: Ceruloplasmin (usually low), liver function tests, blood counts
  • Urine tests: 24-hour urinary copper (elevated)
  • Eye examination: Detect Kayser–Fleischer rings
  • Liver biopsy: Measures copper levels and liver damage
  • Genetic testing: Identifies mutations causing the disease
  • Imaging: MRI of the brain or ultrasound of the liver as needed

Treatment

Wilson disease is primarily managed with medications that remove excess copper:

  • Chelating agents: Penicillamine, Trientine
  • Zinc therapy: Reduces copper absorption
  • Key points:
  • Medications are usually lifelong
  • Stopping treatment can lead to copper accumulation and worsening disease
  • Regular monitoring with blood and urine tests is required
  • Drug doses may be adjusted for effectiveness and safety
  • Diet & Lifestyle
  • Patients should limit copper-rich foods, especially during the first year of treatment:
  • Foods to limit:
  • Nuts, soy products, chocolate, organ meats
  • Packaged, canned, or pickled foods (may contain higher copper)
  • Regular monitoring with blood and urine tests is required
  • Drug doses may be adjusted for effectiveness and safety
  • Foods NOT to limit:
  • Most cereals, fruits, vegetables, lentils, sugars, dairy products
  • Eggs, fish

In advanced liver disease, ensuring adequate nutrition and protein intake is more important than strict copper restriction. A diet plan should be guided by a physician or dietitian.

Liver Transplantation in Wilson Disease

  • Liver transplantation is considered in:
  • Acute or chronic liver failure
  • Severe jaundice, bleeding tendencies, or hepatic encephalopathy
  • Hemolytic anemia due to excess copper
  • Transplantation can improve both liver and neurological symptoms
  • Living liver donors may include eligible family members without the disease

Why Choose 

Multidisciplinary team of hepatologists, neurologists, and dietitians

  • Advanced diagnostic testing and monitoring
  • Personalized medication management and dietary guidance
  • Focus on early intervention, long-term copper control, and prevention of complications

FAQ's

What is Wilson disease?

Wilson disease is a rare inherited disorder where excess copper accumulates in the body, mainly in the liver and brain, due to a genetic defect. If untreated, it can lead to liver failure and neurological symptoms.

  • Liver: Jaundice, fatigue, abdominal swelling, anemia
  • Brain/Neurological: Tremors, poor coordination, drooling, difficulty speaking
  • Psychiatric: Mood swings, depression, anxiety
  • Other organs: Eyes (Kayser–Fleischer rings), kidneys, bones

Diagnosis involves: blood tests (ceruloplasmin), 24-hour urinary copper, liver biopsy, eye examination, genetic testing, and imaging (MRI/ultrasound).

Lifelong medications: Penicillamine, Trientine, Zinc. Regular monitoring is required to maintain safe copper levels.

Limit copper-rich foods: nuts, chocolate, soy, organ meats, canned/packaged foods. Most cereals, fruits, vegetables, eggs, and dairy are safe.

In cases of liver failure or severe complications, transplant may be life-saving. Living donors can include family members without the disease.

Patients feedback

From consultation to follow-ups, every interaction felt personal and unhurried. The attention to detail from medication management to dietary guidance was exceptional. What I appreciated most was how clearly everything was explained, making a complex condition like Wilson disease feel manageable. It’s rare to experience healthcare that is this attentive and genuinely patient-focused

Aarya Shet Care that goes beyond just treatment

When my child was diagnosed with Wilson disease, it was an incredibly overwhelming moment for our family. But the way everything was explained—with such patience, clarity, and empathy—made all the difference. From early diagnosis to ongoing care, we always felt we were in the safest hands. Today, my child is healthy and living a normal life, and for that, we are deeply grateful.

Sonali Shahani A diagnosis that felt less frightening because of the right guidance

Consult For

MASLD
Wilson disease
Jaundice
Liver transplantation
Liver Cirrhosis
Alcohol associated liver disease
Autoimmune Hepatitis
Budd Chiari Syndrome
Hepatitis B Infection
Hepatitis C Infection
Hepatocellular carcinoma (HCC) / Liver cancer
Endoscopy

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