Wilson’s Disease: Causes, Symptoms, Diagnosis, and Treatment Full Explaination

Wilson’s Disease: Causes, Symptoms, Diagnosis, and Treatment Explained

Wilson’s Disease: also called hepatolenticular degeneration — is a rare, inherited disorder where the body cannot properly get rid of excess copper. Instead of being excreted in bile (through the liver), copper gradually accumulates in the liver, brain, eyes, and other organs, leading to serious health problems if untreated.

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1. Cause

• Genetic Basis:
  Caused by mutations in the ATP7B gene (on chromosome 13).

  • The ATP7B gene makes a protein that helps transport copper into bile for excretion.

  • In Wilson’s Disease, this protein does not work properly, so copper builds up in tissues.

• Inheritance Pattern:
  Autosomal recessive — a person must inherit two defective copies of the gene (one from each parent).

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2. How Copper Normally Works

• Copper is an essential mineral for:

  • Formation of red blood cells

  • Nerve function

  • Collagen production

• Normally, excess copper is eliminated via bile.

• In Wilson’s Disease, the elimination system fails → copper overload.

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3. Symptoms

Symptoms usually appear between ages 5 and 35, but can occur earlier or later.

A. Liver-related (Hepatic)

• Fatigue

• Jaundice (yellowing of skin/eyes)

• Abdominal swelling (ascites)

• Easy bruising or bleeding

• Hepatitis-like symptoms

• Cirrhosis or liver failure

B. Neurological

• Tremors

• Difficulty speaking (dysarthria)

• Difficulty swallowing (dysphagia)

• Muscle stiffness or rigidity

• Poor coordination, balance problems

• Behavioral or personality changes

• Depression, anxiety, psychosis

C. Eye Changes

• Kayser–Fleischer rings: golden-brown rings around the cornea (seen with slit-lamp exam) caused by copper deposits in the Descemet’s membrane.

• Sunflower cataracts (less common)

D. Other

• Anemia (especially hemolytic anemia)

• Kidney problems (proteinuria, kidney stones)

• Bone and joint issues (osteoporosis, arthritis)

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4. Diagnosis

A combination of tests is used because no single test confirms it completely.

• Blood tests:

  • Low ceruloplasmin (a copper-carrying protein)

  • High free copper in the blood

• 24-hour urine copper test — measures copper excretion (usually increased)

• Liver biopsy — measures copper content directly

• Eye examination — slit-lamp check for Kayser–Fleischer rings

• Genetic testing — confirms ATP7B mutation

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5. Treatment

Treatment is lifelong and aims to remove excess copper and prevent re-accumulation.

A. Chelating Agents (bind copper and remove it through urine)

• Penicillamine — very effective, but can have side effects (allergic reactions, bone marrow suppression)

• Trientine — alternative for those intolerant to penicillamine

B. Zinc Therapy

• Zinc acetate — blocks copper absorption in the gut

• Often used after initial copper removal to maintain safe levels

C. Diet

• Avoid copper-rich foods: shellfish, nuts, chocolate, mushrooms, organ meats

• Avoid copper-containing supplements

D. Liver Transplant

• For severe liver damage or failure

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6. Prognosis

• With treatment: Most people live normal lives if diagnosed early.

• Without treatment: Copper buildup causes irreversible liver and brain damage, and can be fatal.

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7. Key Facts

• Rare: ~1 in 30,000 people

• Symptoms often mimic hepatitis, psychiatric disorders, or Parkinson’s disease, leading to misdiagnosis

• Siblings of diagnosed patients must be screened early

• Lifelong adherence to therapy is essential

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