Track 3: Liver Diseases and Wilsons Disease

Liver Diseases Overview

Liver diseases refer to any condition that affects the liver's structure or function. The liver is crucial for filtering toxins, metabolizing nutrients, producing bile, and storing vitamins. Common types of liver diseases include:

Hepatitis (A, B, C, D, E): Inflammation of the liver caused by viral infections.

Non-Alcoholic Fatty Liver Disease (NAFLD): Fat accumulation in the liver not related to alcohol.

Alcohol-Related Liver Diseases: Damage from excessive alcohol intake, such as alcoholic hepatitis or cirrhosis.

Autoimmune Liver Diseases: The immune system attacks liver cells, e.g., autoimmune hepatitis.

Liver Cirrhosis: Scarring of the liver tissue due to long-term damage.

Liver Cancer: Includes hepatocellular carcinoma and cholangiocarcinoma.

Genetic Liver Disorders: Conditions inherited from parents, including Wilson’s disease.

Wilson’s Disease

Wilson’s disease is a rare genetic disorder in which the body is unable to properly eliminate excess copper, causing it to accumulate in the liver, brain, eyes, and other organs. It is an autosomal recessive condition, meaning a person must inherit the defective gene from both parents.

Causes

A mutation in the ATP7B gene, which regulates copper transport and excretion, leads to impaired copper metabolism.

Excess copper builds up in the liver initially and then leaks into the bloodstream, affecting other organs.

Symptoms

Symptoms vary depending on the organs affected and can be divided into categories:

Liver Symptoms:

Fatigue

Jaundice (yellowing of the skin and eyes)

Hepatitis (inflammation)

Liver enlargement

Cirrhosis (scarring of the liver)

Acute liver failure in severe cases.

Neurological Symptoms:

Tremors

Difficulty speaking or swallowing

Muscle stiffness or lack of coordination

Behavioral changes (depression, irritability).

Ophthalmological Symptoms:

Kayser-Fleischer Rings: Copper deposits in the cornea, visible as brownish rings around the iris.

Other Symptoms:

Anemia

Low platelet count

Kidney issues or kidney stones

Arthritis.

Diagnosis

Blood Tests:

Low levels of ceruloplasmin (a copper-carrying protein).

High levels of free copper in the blood.

Urine Tests:

Elevated copper excretion in a 24-hour urine sample.

Liver Biopsy:

Measurement of copper levels in liver tissue.

Imaging:

Eye examination for Kayser-Fleischer rings using slit-lamp microscopy.

Genetic Testing:

Identification of mutations in the ATP7B gene.

Treatment

Medications:

Chelating Agents (e.g., Penicillamine, Trientine): Bind to copper and help remove it through urine.

Zinc Acetate: Reduces copper absorption in the intestine.

Dietary Restrictions:

Avoid high-copper foods like shellfish, nuts, chocolate, and organ meats.

Liver Transplant:

Considered for severe liver damage or acute liver failure.

Prognosis

With early diagnosis and proper treatment, most patients lead healthy lives.

If untreated, Wilson’s disease can result in severe liver damage, neurological complications, or death.