Copper Deficiency in Wilson's Disease with a Normal Zinc Value.

Area of Science:

• Neurology
• Hematology
• Metabolic Disorders

Background:

• Wilson's disease (WD) requires long-term management with copper-reducing agents.
• Copper deficiency (CD) is an uncommon but serious complication of WD treatment.
• CD can manifest with neurological and hematological symptoms.

Observation:

• A 57-year-old woman with WD developed myeloneuropathy and macrocytic anemia after 36 years of treatment.
• Her symptoms were attributed to copper deficiency, confirmed by low serum free copper.
• Normal serum zinc levels suggested causes other than zinc overdose, such as dysphagia and diarrhea.

Findings:

• Reduced serum free copper confirmed copper deficiency in the patient.
• The deficiency was linked to gastrointestinal issues (dysphagia, diarrhea) impacting copper absorption.
• Discontinuation of copper-lowering therapy and increased copper intake led to symptom improvement.

Implications:

• Physicians must consider copper deficiency in Wilson's disease patients presenting with neurological or hematological abnormalities.
• Awareness of CD risk is crucial, especially in WD patients with swallowing difficulties or chronic diarrhea.
• Early diagnosis and management of CD can prevent severe complications in WD patients.