Blog
Wilson’s Disease
Covenant Metabolic Specialists Health Library
Covenant Metabolic Specialists
Physician Reviewed
Dec 3, 2025
Wilson’s disease is an autosomal recessive disorder of copper metabolism causing toxic accumulation in liver, brain, and other tissues due to ATP7B gene mutations. Early identification and lifelong treatment with chelators or zinc prevent hepatic failure and neurologic disability, converting a fatal disease into a controllable condition.
Symptoms
Clinical presentations vary: asymptomatic transaminase elevations, fulminant hepatic failure, chronic hepatitis, or cirrhosis. Neurological manifestations include tremors, dystonia, dysarthria, ataxia, and psychiatric disturbances such as depression, personality changes, or psychosis. Kayser‑Fleischer corneal rings are pathognomonic but absent in some hepatic‑only cases.
Causes
Mutations impair copper incorporation into ceruloplasmin and biliary excretion. Resulting excess free copper generates oxidative stress, mitochondrial injury, and cell death in hepatocytes and basal ganglia neurons. Hemolytic anemia may occur when copper suddenly releases into circulation.
Risk Factors
Having two carrier parents confers 25 % offspring risk. Siblings of diagnosed patients must be screened. Populations with higher consanguinity show higher prevalence. Unexplained liver disease in individuals under 40 warrants evaluation.
Diagnosis
Diagnostic triad: low ceruloplasmin (<20 mg/dL), elevated 24‑hour urinary copper (>100 μg), and high hepatic copper on biopsy (>250 μg/g). Slit‑lamp eye exam for Kayser‑Fleischer rings. MRI brain shows copper deposition patterns. Genetic testing confirms ATP7B mutations and identifies presymptomatic siblings.
Treatments
Initial therapy with D‑penicillamine or trientine chelates copper. Zinc acetate or gluconate blocks intestinal copper absorption for maintenance. Neurological worsening can occur early during chelation; slow dose escalation mitigates. Liver transplant cures metabolic defect in fulminant cases or end‑stage cirrhosis.
Prevention
Genetic counseling, sibling screening, adherence to low‑copper diet (avoid shellfish, nuts, chocolate), and lifelong chelation or zinc therapy prevent tissue accumulation. Avoiding hepatotoxic substances, adequate nutrition, and vaccination against hepatitis viruses further protect the liver.
Our Take
Covenant’s integrated liver‑neurology clinic monitors biochemical markers, drug compliance, neurological symptoms, and mental health, ensuring comprehensive care tailored for each disease stage.
Early detection converts Wilson’s disease from lethal to livable. Covenant advocates routine ceruloplasmin testing in unexplained liver disease and rapid family screening to initiate timely chelation before irreversible organ damage.
