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The first European Clinical Practice Guidelines (CPGs) for the diagnosis and management of Wilson’s disease are published today by the European Association for the Study of the Liver (EASL) on the EASL website – www.easl.eu. Developed to assist physicians and healthcare providers in the clinical decision making process, the guidelines describe best practice for the diagnosis and treatment of patients with Wilson’s disease - a rare genetica disorder that, if left untreated, is fatal.
Approximately one in 30,000 people worldwide are affected by Wilson’s disease - a condition in which copper is not excreted by the body effectively, leading to excess copper build up, liver failure and damage to the brain. While Wilson’s disease may manifest at any age, the majority of patients present between the ages of 5 and 35.
Lead author Professor Peter Ferenci said: “The clinical presentation of Wilson’s disease can vary widely, but it must be considered in any patient who presents with a combination of unexplained liver disease and neurological or neuropsychiatric disorders. In the absence of Kayser-Fleischer ringsb - which are typical, but not always present - the guidelines recommend measurement of urinary copper excretion and hepatic parenchymal copper as diagnostic methods of choice. Notably, age alone should not be the basis for eliminating a diagnosis of Wilson’s disease.”
