Exogenous copper exposure causing clinical wilson disease in a patient with copper deficiency

Blanca C. Lizaola-Mayo, Rolland C. Dickson, Dora M. Lam-Himlin, David M. Chascsa

Research output: Contribution to journalArticlepeer-review


Background: Human Swayback is a disease characterized by acquired copper deficiency which primarily manifests as myeloneuropathy. Common causes include malabsorptive disorders, gastric surgery, total parenteral nutrition and excessive zinc intake. In contrast, copper supplementation should be closely monitored as excessive doses can lead to acute intoxication and in chronic cases, cirrhosis. Copper derangements are rare, however it is important to consider them due to potential severe complications. Case presentation: We present a middle-aged man who had been previously diagnosed with Human Swayback after presenting with various neurological symptoms. The patient was subsequently placed on copper supplementation. A decade later, he was referred to our hospital for liver transplant evaluation due to new diagnosis of decompensated end-stage liver disease after an abdominal surgery. His initial workup was suggestive of Wilson disease—subsequent ATP7B gene was negative. Ultimately, the patient underwent liver transplantation; liver explant was significant for a copper dry weight concentration of 5436 mcg/g. Conclusions: Human Swayback is a very rare copper-related disease which deserves awareness due to its potential irreversible health effects in the human body. Additionally, in patients who require copper supplementation, serial levels should be monitored to ensure adequate copper levels.

Original languageEnglish (US)
Article number278
JournalBMC Gastroenterology
Issue number1
StatePublished - Dec 2021


  • Copper deficiency
  • Copper toxicity
  • Human Swayback
  • Liver transplantation

ASJC Scopus subject areas

  • Gastroenterology


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