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Internal Medicine

Copper deficiency

Copper deficiency is a disease that causes cytopaenia and neuropathy and can be treated by copper supplementation.

Copper deficiency is a disease that causes cytopaenia and neuropathy and can be treated by copper supplementation.


Physiology

Adequate copper intake permits normal utilization of dietary iron in that intestinal iron absorption, iron release from stores (e.g. in macrophages of liver and spleen), and iron incorporation into hemoglobin are copper-dependent processes. In addition to preventing anemia, copper assists in blood coagulation and blood pressure control; cross-linking of connective tissues in arteries, bones, and heart; defense against oxidative damage; energy transformation; myelination of brain and spinal cord; reproduction; and synthesis of hormones.

Copper metabolism:

Metabolism of copper: Numbers represent average amount in healthy adults. Copper is largely absorbed in stomach and proximal small intestine. It is transported via portal vein to liver for ceruloplasmin biosynthesis, which carries copper to peripheral tissues. Roughly 50% copper is excreted in bile. *Menkes P-type ATPase: a transmembrane protein, which regulates copper absorption from intestine into the blood. ǂWilson P-type ATPase: copper transporting protein, involved in copper excretion into bile and plasma. | Kodama H, Fujisawa C, Bhadhprasit W. Inherited Copper Transport Disorders: biochemical Mechanisms, Diagnosis, and Treatment. Curr Drug Metab. 2012;13:237–250

Aetiology

Risk factors:

  • Special nutritional conditions: Long-term tube feeding, long-term total parenteral nutrition (TPN)
  • Intestinal resection
  • Ingestion of zinc

Clinical features

Hematological presentation:

  • Anemia (microcytic, normocytic, or macrocytic)
  • Neutropenia
  • Thrombocytopenia (rare)

Neurological manifestations:

  • Myelopathy
  • Peripheral neuropathy (simulating subacute combined degeneration)

Bone marrow findings:

Mimic myelodysplasia resulting in occasional inappropriate referral for bone marrow transplantation

Case study:


Diagnosis

Hematological, but not neurological, manifestations respond promptly to copper replacement, making early diagnosis essential for good outcome.

Differential diagnosis:

Other conditions with similar presentations
  • Infections, drug toxicity, autoimmunity, B12 deficiency, folate deficiency, myelodysplastic syndrome, aplastic anemia, and lymphoma with bone marrow involvement

Management

Neurological symptoms will become irreversible if treatment is delayed making it crucial to diagnose copper deficiency and start treatment early.

Copper supplementation

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