Key Points 1 Hepatic vein occlusion, or Budd-Chiari syndrome (BCS), is an uncommon disorder characterized by hepatomegaly, ascites, and abdominal pain. The disorder most often occurs in patients with an underlying thrombotic diathesis including polycythemia vera, factor V Leiden mutation,…
Key Points 1 Alpha-1 antitrypsin deficiency (α-1 ATD) is the most common metabolic liver disease in childhood. The diagnosis should be considered in all adults and children with chronic hepatitis or cirrhosis of unknown origin. α-1 ATD is associated with…
Key Points 1 Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by disease-specific defects in the ATP7B gene that encodes a copper-transporting P-type adenosine triphosphatase (ATPase) expressed primarily in the trans-Golgi network of hepatocytes. 2 Loss…
Key Points 1 Hereditary hemochromatosis (HH) is an inherited disorder characterized by iron-mediated tissue injury reflecting impaired regulation of intestinal iron absorption. 2 Classic HH is most commonly associated with autosomal recessive inheritance of mutations in the HFE gene that…
Key Points 1 Primary sclerosing cholangitis (PSC) is a chronic cholestatic disease that frequently occurs in association with inflammatory bowel disease (IBD), usually ulcerative colitis. 2 The diagnosis of PSC is based on clinical, biochemical, and, most importantly, cholangiographic findings…
Key Points 1 Primary biliary cholangitis (PBC, formerly known as primary biliary cirrhosis) is a chronic cholestatic liver disease that typically affects middle-aged women. Its pathogenesis includes a combination of environmental and genetic factors. 2 Genetic studies suggest that the…
Key Points 1 Hepatic encephalopathy (HE) occurs only in the setting of significant liver disease. Any neuropsychiatric symptom or sign in a patient with severe liver dysfunction should be considered HE until proven otherwise. 2 HE may be covert or…
Key Points 1 The term hepatorenal syndrome (HRS) refers to kidney failure in patients with decompensated cirrhosis. 2 HRS is characterized by a rapid decline of kidney function and is associated with a poor prognosis and high resource utilization. 3…
Key Points 1 Cirrhosis accounts for 85% of the cases of ascites in the United States; the development of ascites is associated with a 50% 2-year survival rate. 2 Abdominal paracentesis with ascitic fluid analysis is a safe and cost-effective…
Key Points 1 Patients with cirrhosis with clinically significant portal hypertension (hepatic venous pressure gradient [HVPG] >10 mm Hg) develop esophageal varices at a rate of 8% per year. This threshold is also required for development of other complications of…