What are the clinical manifestations of hepatolenticular degeneration?

Hepatolenticular degeneration (Wilson's disease) mainly presents clinically with liver damage, neurological symptoms, ocular abnormalities, kidney injury, and musculoskeletal disorders. If unexplained liver dysfunction, limb tremors, or corneal Kayser-Fleischer rings occur, prompt medical evaluation at a qualified hospital is essential.

1. Liver damage: This is often the initial manifestation, characterized by fatigue, decreased appetite, abdominal distension, and jaundice. In severe cases, it may progress to cirrhosis, ascites, or liver failure. Some patients may experience dull pain or discomfort in the liver area.

2. Neurological symptoms: Predominantly extrapyramidal symptoms, including limb tremors, increased muscle tone, and bradykinesia. Additional manifestations may include dysarthria, dysphagia, and cognitive decline.

3. Ocular abnormalities: The hallmark sign is the corneal Kayser-Fleischer (K-F) ring. Other possible findings include refractive errors, ophthalmoplegia, and decreased vision. The presence of corneal copper deposits is one of the key diagnostic criteria.

4. Kidney injury: Copper deposition damages the renal tubules, leading to proteinuria, hematuria, frequent urination, and urgency. Severe cases may result in renal insufficiency and electrolyte imbalances.

5. Musculoskeletal lesions: Manifested as joint pain, stiffness, and restricted movement. Some patients may develop osteoporosis, fractures, muscle atrophy, or weakness.

Daily management requires strict restriction of copper intake. Foods high in copper—such as animal liver, nuts, and chocolate—should be avoided. Patients must take chelating agents regularly, undergo periodic monitoring of liver and kidney function and copper metabolism parameters, engage in appropriate rehabilitation exercises, and maintain regular sleep patterns and a balanced diet to support overall physiological stability.