22 Approach to metabolic and storage diseases
Key Points Metabolic liver diseases have a wide clinical spectrum of presentation and are often asymptomatic in adults. A high index of suspicion must be maintained in order to achieve…
Key Points Metabolic liver diseases have a wide clinical spectrum of presentation and are often asymptomatic in adults. A high index of suspicion must be maintained in order to achieve…
Key Points Simple cysts are benign and do not cause symptoms. They do not need investigation or follow-up. Simple cysts can be multiple and not be part of a polycystic…
Key Points The initial diagnosis of liver disease begins with a complete history, physical examination, and simple liver biochemical blood tests. Liver biochemistry determines the pattern of liver enzyme elevation—hepatocellular…
Key Points Wilson disease (WD) is a rare, but treatable, autosomal recessive disorder of hepatic copper disposition. Onset of clinical disease can occur at any age, though mainly between 3…
Key Points Nowadays, most adult patients with cholestatic liver disease are first diagnosed when asymptomatic; this is not the case for children. In adults, testing for antimitochondrial antibodies (AMA) can…
Key Points Portal vein thrombosis is common in patients with cirrhosis. The main complication of portal vein thrombosis is variceal bleeding. Acute portal vein thrombosis without cirrhosis should be treated…
Key Points The hepatitis C virus (HCV) is a small, parenterally transmitted RNA virus; today it is acquired almost exclusively by the use of unsterile needles. It occurs in six…
Key Points Autoimmune hepatitis (AIH) is a chronic and relapsing, immune-mediated liver injury. No single diagnostic test exists for AIH and in the absence of alternative liver disease, diagnosis rests…
Key Points Everyone infected with human immunodeficiency virus (HIV) should be screened for hepatitis B and hepatitis C as all three viruses share routes of infection. Anyone with liver disease…
Key Points Alcoholic liver disease (ALD) encompasses a spectrum of injury, ranging from fatty liver to frank cirrhosis. Although alcoholic fatty liver secondary to excessive alcohol ingestion resolves with abstinence,…