Wilson Disease’s normal progression from asymptomatic accumulation of hepatic copper to varied manifestation of liver disease, neurologic involvement and anemia can go undiagnosed (because of these many possible presentations) until life threatening and/or liver transplantation-requiring disease evolves. A high index of suspicion and earlier diagnosis renders Wilson Disease manageable in most instances without transplantation and before irreversible neurologic injury has occurred, allowing one or another medical “decoppering” therapy to be used effectively.
Dr. Rosen and colleagues (doi: 10.1542/peds.2012-2923) at the Children’s Hospital of Chicago identify yet another presentation to look out for: spasmodic muscle cramps and weakness. In Rosen’s patient’s case, the initial workup for a primary muscle disease led to recognition of liver disease and ultimately to the correct diagnosis. Copper chelation resolved the symptoms and abnormal laboratory findings over a few months without the need for liver transplantation. The lesson that muscle cramps may not be musculoskeletal in origin may have profound impact on early diagnosis in one of your patients.