Autoimmune liver disease

BACKGROUND Autoimmune liver disease encompasses several disorders. Included in this category are primary sclerosing cholangitis (PSC), primary biliary cirrhosis (PBC), and autoimmune hepatitis (AIH). There are also several “overlap syndromes” which encompass two of these diseases in combination. In this chapter, we will describe these liver conditions, including the typical clinical presentation, the diagnostic criteria, management, and potential complications. We will also discuss briefly the role of orthotopic liver transplantation. PRIMARY SCLEROSING CHOLANGITIS Primary sclerosing cholangitis (PSC) is a chronic, cholestatic liver disease of unknown etiology. Several potential causes have been described. These include disordered immunoregulation; which may involve altered T-cell subsets, abnormal T-cell suppressor function, circulating immune complexes, and/or abnormal complement levels; infections and bacterial products; or portal bacteremia. The disease leads to diffuse inflammation and fibrosis of the biliary tree which ultimately causes biliary cirrhosis and portal hypertension. Clinical Presentation Clinically, patients with PSC will of ten present with an incidental finding of elevated liver tests in a cholestatic profile (elevated alkaline phosphatase). The majority (70%) of patients will also have inflammatory bowel disease (IBD), typically chronic ulcerative colitis. Fifteen to 44% of patients may be entirely asymptomatic. Others may present with symptoms of cholestasis such as fatigue, jaundice, hyperpigmentation, or pruritus (Table 10.1). A subset may even have evidence of cholangiocarcinoma at the time of initial presentation. Diagnosis The diagnosis of PSC is typically made in the setting of liver tests elevated in a cholestatic profile and an abnormal cholangiogram. Autoantibodies may also be present (Table 10.2).