Wilson's Disease

What is Wilson’s disease?

Wilson disease is a familial, lethal neurological disease accompanied by cirrhosis of liver.

It is a rare, inherited disorder in which the body is unable to remove excess copper.

Due to defective absence of a specific gene, there is decreased biliary excretion of copper, resulting in toxic copper accumulation in liver cells. Essentially, a faulty gene stops the liver from processing copper normally. This causes accumulation of copper in liver cells. Once the storage capacity is totally exhausted, copper flows out and is eventually deposited in other organs  like kidneys, eyes and brain. Simultaneously , the copper in the liver is not incorporated into ceruloplasmin causing low levels of ceruloplasmin in the blood.

Who is affected?

• Usually appears in children, adolescents, or young adults
• Both males and females can be affected
• It is not contagious

How does copper buildup affect the body?

• Liver: hepatitis, fatty liver, cirrhosis, liver failure
• Brain and nerves: tremors, difficulty speaking, poor coordination, behavioral changes
• Eyes: a brownish or greenish ring around the cornea called Kayser–Fleischer ring

Wilson's disease is often difficult to diagnose because its symptoms are general and vary by age. It typically involves the liver, the mind, or the nervous system, though younger patients tend to show liver-specific issues more frequently. The disease exhibits a wide range of clinical signs that can affect different systems of the body:

• Primary Symptoms: The condition can manifest as liver disease, psychiatric illness, or a neurological disorder that worsens over time.
• Neurological Cases: In some instances of progressive neurological issues, liver dysfunction might be very subtle or entirely missing.
• Combined Symptoms: Patients may experience a mixture of these different clinical categories simultaneously.
• Age-Related Trends: While symptoms are often vague and non-specific regardless of age, children and younger adults are more likely to present with only liver disease compared to older patients.

Why is early detection important?

The patients can be without any symptoms initially. Identifying patients before they feel sick is essential because "silent" copper accumulation can already be damaging the liver. Without intervention, these individuals will eventually become symptomatic, though a detailed medical exam might reveal subtle early warning signs. Even when a patient shows no outward symptoms of Wilson’s disease, the underlying condition may already be causing  following harm:

• Hidden Damage: Individuals who appear healthy may already have internal organ damage, specifically in the liver or other areas, due to the buildup of copper.
• Disease Progression: If left without treatment, these asymptomatic individuals typically develop the full clinical symptoms of Wilson’s disease.
• Critical Identification: Because the disease progresses when ignored, finding and diagnosing these patients early is vital.
• Subtle Indicators: While they may seem symptom-free, some patients might actually notice minor signs of the disease if a thorough medical review of their various organs is conducted

Early diagnosis and regular treatment can:

• Prevent liver failure
• Reverse many symptoms
• Allow individuals to live a normal, healthy life

Sign and symptoms

Symptoms vary widely.

• Patients can be initially without any symptoms.
• Tiredness
• Jaundice (yellowing of eyes/skin)
• Abdominal swelling
• Abdominal Pain
• Hand tremors, stiffness, clumsiness
• Poor school/work performance
• Difficulty swallowing or speaking
• Sleep disturbances
• Changes in personality
• Depression
• Mood instability
• Being more talkative
• When other organs are involved:
  • Kayser–Fleischer (KF) rings due to copper deposited in cornea of the eyes and appear as golden‐ brownish pigment.
  • Kidney function may be affected
  • Heart function may be affected

Pediatric patients with Wilson’s disease mostly develop only liver disease. Neuro-psychiatric disease in addition to liver disease is present in adult patients. The age at which symptoms first appear is much broader than often expected, typically ranging from ages 3 to 55. Doctors are increasingly diagnosing the condition in children under the age of five, who may be entirely asymptomatic. In these young cases, the disease is often discovered incidentally through an enlarged liver or abnormal liver enzyme tests during routine checkup.

How is Wilson’s disease diagnosed?

Diagnosis is based on a combination of:

• Blood tests (low ceruloplasmin, abnormal liver tests)
• Urine copper test (Basal 24‐h urinary copper excretion)
• Eye examination (slit-lamp for Kayser–Fleischer rings)
• Genetic testing (for gene ATP7B mutations)
• Liver biopsy in some cases

Management of Wilson’s Disease

Wilson’s disease can be effectively treated if diagnosed early.
Treatment is usually lifelong and includes:

• Copper-chelating medicines (help remove excess copper)
• Zinc therapy (reduces copper absorption from food)
• Low-copper diet (avoid shellfish, nuts, chocolate, mushrooms)
• In severe cases, liver transplantation

Disclaimer:

This information is provided for educational purposes only. Some of the content is derived from data found at journals.lww.com