DIAGNOSIS OF WILSON’S DISEASE – A 20-YEAR AUDIT Geetha Rathnayake 1, Mirette Saad 2, Kay Weng Choy 1, James CG Doery 1,3 1 Monash Pathology, Monash Medical Centre; 2 Australian Clinical Labs; 3 Department of Medicine, Monash University, Clayton Vic Only five patients had presence or absence of KF rings documented KF rings may be absent in children Seven patients first presented with neurologic or psychiatric findings including learning difficulties, psychosis, limb inco-ordination and tremor. WD may not be considered a differential diagnosis for such subtle and non-specific features Almost half (44%) first presented with liver disease both early and advanced. First presentation with liver diseases can occur at any age All patients fulfilled the International Wilson’s Disease Leipzig scoring system for diagnosis which is available on-line. y/for-physicians/wilsons-disease-scoring- system/ y/for-physicians/wilsons-disease-scoring- system/ Early diagnosis has positive impact on prognosis but is very challenging as early symptoms are non-specific. Wilson’s should be suspected in any patient with unexplained liver disease, neurological or neuropsychiatric disorder. East Asian populations have at least double the incidence of other ethnicities. MonashPathology MonashHealth METHODS Hospital medical records and pathology database of all patients diagnosed with WD at Monash Health over last 20 years were examined. (n=18) The initial clinical presentation as well as serum copper, serum caeruloplasmin, 24-hour urinary copper, liver tests, and liver copper were reviewed CONCLUSION Wilson’s disease is an uncommon disease which is very challenging to diagnose at an ideally early stage because neurologic symptoms and liver test abnormalities are far more commonly caused by other conditions. No one particular presenting symptoms or signs were specific to particular age groups i.e. any feature could present at any age This audit confirms that the Leipzig scoring system provides best diagnostic accuracy Chemical Pathologists and other clinicians must appreciate the limitation of individual tests for WD and communicate effectively to ensure accurate diagnosis. Liver biopsy; brown rhodanine stain specific for copper deposition INTRODUCTION Wilson disease (WD) was first described in 1912 by Kinnear Wilson as “progressive lenticular degeneration,” a familial, lethal neurological disease accompanied by chronic liver disease leading to cirrhosis and hepatic malignancy. It is a rare autosomal recessive disorder of the ATP7B gene controlling biliary copper excretion, leading to copper accumulation in many organs. (Figure 1) (1) Most common presentations are with liver disease, neurologic or psychiatric symptoms It is fatal if not recognised and treated when symptomatic. Diagnosis is based on a combination of clinical findings and laboratory tests to create a Leipzig diagnostic risk score. (2) No blood test has 100% sensitivity for Wilson’s disease. Leipzig scoring system provides best diagnostic accuracy REFERENCES 1.Roberts E A, Schilsky M L. Diagnosis and Treatment of Wilson Disease: An Update. AASLD Practice Guidelines. HEPATOLOGY, Vol. 47, No. 6, 2008: European Association for the Study of the Liver. EASL Clinical Practice Guidelines: Wilson’s Disease. J Hepatology (2012) 56: Fig 1. Clinical presentations of Wilson’s disease AIM To examine the clinical presentation and relative values of laboratory tests in the diagnosis of Wilson’s disease Initial presenting features ProportionAge Presentation Kayser- Fleischer (KF) rings 3 of 5 tested Neurologic or psychiatric symptoms 40% Liver disease / liver failure 44% Abnormal laboratory presentation Low serum copper 72% Low serum caeruloplasmi n 72% High urine copper 61% Liver copper elevated 6 of 6 tested Initial presenting features of our Wilson’s disease patients RESULTS & DISCUSSION Leipzig International Wilson’s Disease scoring system Age of presentation varied from 10 to 54 years (67% years); 78% males, 22% females; 55% of Asian origin, based on family name WD may present symptomatically at any age The predominant Asian origin reflects the higher incidence in East Asians plus local population demographics