Copper Defi ciency: Clinical Review of an Obscure Imitator

Abstract

Copper deficiency has been reported in the literature but is considered relatively rare. It appears primarily to result from poor absorption, even though the precise mechanism(s) may not be apparent in all cases. Importantly, copper deficiency is a masquerader. It frequently results in manifestations that could easily be mistaken for another condition leading potentially to misdiagnosis and inappropriate therapy. Unlike vitamin B12 and folate deficiencies however, many guidelines and textbooks make no mention of copper deficiency as a potential secondary cause for a myelodysplasia (MDS) like presentation or neuropathy even though multiple reports have described these associations. Most of the information pertaining to this disorder in humans however is scattered over several individual publications primarily of isolated case reports and as a result there is no cohesive or comprehensive review of the overall clinical spectrum as it pertains to causes, clinical presentation and treatment. Consequently, awareness remains poor and testing sporadic. We believe it is crucially important that such information be compiled and disseminated to physicians given the potentially serious consequences associated with this disorder. Additionally, the impact gets even greater because it is a treatable condition. This is the primary motivation and purpose of this focused review. We present our own experience as well as that of others, with the goal of enhancing awareness and therefore timely diagnosis and treatment of these patients.