In early copper deficiency, neutropenia and hypochromic anemias may be seen. Studies have also indicated an association with subclinical copper deficiency and coronary heart disease. Menkes' steely hair syndrome is a rare, X-linked inheritable form of copper deficiency associated with brittle hair, skin depigmentation, hypothermia, seizures, cerebral degeneration, and vascular defects. Affected infants have low serum, hepatic, and cerebral copper levels and low serum ceruloplasmin levels. The effects of copper accumulation include nausea, vomiting, epigastric pain, diarrhea, hemolysis, hepatic necrosis, GI bleeding, oliguria, hypotension, tachycardia, seizures, coma, and death.
Acute toxicity is usually due to ingestion.
In patients with Wilson's disease, accumulation is chronic with clinical presentation usually between 6-40 years of age. Effects include hepatic cirrhosis, neurological disorders, Kayser-Fleischer rings, and hemolysis. Ceruloplasmin is decreased, resulting in decreased total serum copper levels. Other conditions associated with elevated urine copper include cholestatic liver disease, proteinuria, some medications, and contaminated specimens. Although random specimens may contain diagnostic information, a 24-hour collection is a more consistent indicator of copper urine.