Elsevier

Disease-a-Month

Volume 60, Issue 9, September 2014, Pages 465-474
Disease-a-Month

Wilson’s disease: Hepatic manifestations

https://doi.org/10.1016/j.disamonth.2014.07.004Get rights and content

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Age and gender

WD should be considered in any person between the age of 3 and 55 years with typical symptoms and signs.1 However, age should not preclude a workup for possible Wilson’s disease since the spectrum of the disease can occur in the very young as well as the elderly. The youngest patient reported was a 3-year old with cirrhosis and the oldest patients with WD, diagnosed by molecular studies, were in their 70s.2, 3 Up to 4% of patients, in fact, can be diagnosed clinically and using laboratory tests

Clinical presentation

Presenting symptoms are highly variable, ranging from the asymptomatic individual with only mild abnormal liver function test, overt cirrhosis (compensated or decompensated), or to acute liver failure. Overall, 40–50% of affected individuals will present with liver disease.6 Predominate hepatic symptoms usually present in the first decade of life with the average age between 10 and 13 years.7 On an average, patients with hepatic manifestations usually present earlier than the onset of

Radiological features in hepatic WD

In clinical practice, the use of abdominal imaging such as ultrasound (US), computed tomography (CT), and magnetic resonance imaging (MRI) is commonly performed when an individual presents for initial evaluation. Common findings associated with WD include fatty infiltration, contour irregularity, and right lobe atropy on US.16 Recent studies have revealed images unique to individuals with WD. In a series of 28 patients using US, CT, and MRI, specific features in WD include multiple nodular

Other clinical features associated with WD

Although most cases of WD present with typical hepatic and/or neuropsychiatric signs and symptoms, excess copper causes many other organs to be affected. This occurs in less than 10% of WD and may include endocrine, renal, cardiac, dermatological, and skeletal deformities. Occasionally, Coombs-negative hemolytic anemia maybe the only initial symptom of Wilson’s disease. In 1 series, hemolysis was the presenting feature in 12% of cases, either as a single acute episode or a chronic, low-grade

Fulminant liver failure (FLF) due to WD

Acute Wilson’s disease leading to fulminant liver failure (FLF) occurs in about 12% of WD and accounts for 5% of all liver transplantations.16 The signs and symptoms of ALF can be indistinguishable from other etiologies of acute liver failure, such as acute viral hepatitis and autoimmune hepatitis.23 Rapid deterioration into fulminant liver failure can also occur in patients who were previously treated but then became non-compliant with medical therapy. Fulminant liver failure occurs

Hepatic copper concentration

Elevated hepatic copper accumulation, by means of a liver biopsy, is the hallmark of Wilson’s disease. As a diagnostic tool, parenchymal copper concentration is the single most sensitive and accurate available test for diagnosis of WD. In general, at least 1–2 cm of biopsy core length should be analyzed.29 Hepatic copper content of >250-µg/g dry weight is consider diagnostic for WD (the normal copper content ranges between 15 and 55 µg/g). In a study of 114 liver biopsies by Ferenci et al.,30

Concomitant liver disease or liver diseases mimicking WD

Little is known about the clinical presentation and natural history of WD in patients who have co-existing liver disease. In a retrospect analysis of 42 patients with WD, a total of 9 individuals had co-existing liver disease (hepatitis C, autoimmune liver disease, hemochromatosis, and hepatocellular carcinoma).59 In this group of patients with WD, the following 3 distinct findings were seen: (1) the average age at diagnosis was much higher in the concurrent liver disease population as compared

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      Hepatic symptoms and presentations of WD are very variable. It may be practical to consider that patients may fall into one of several presentation categories: (a) those who are asymptomatic with incidentally found mildly abnormal liver tests, (b) those with a clinical picture similar to chronic hepatitis, (c) those with overt cirrhosis (compensated or decompensated), and (d) those with acute liver failure which may be associated with Coombs-negative hemolytic anemia and acute renal failure.20,21 Hepatic symptoms occur between 10 and 13 years of age.22

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