Disorders of the Hepatobiliary Tract

Primary sclerosing cholangitis (PSC) is an inflammatory disease that causes fibrosis and strictures of the bile ducts. The exact etiology is unknown, but there is a strong association with inflammatory bowel disease (IBD). Patients typically present with an insidious onset of fatigue, pruritus, and jaundice, which can progress to cirrhosis and complications related to biliary obstruction. The diagnosis is established with magnetic resonance cholangiopancreatography (MRCP) or endoscopic retrograde cholangiopancreatography (ERCP). Liver transplantation is the only definitive treatment and is indicated in patients with advanced liver disease.

Hereditary hemochromatosis (HH) is an autosomal recessive disorder most often associated with HFE gene mutations. Patients have increased iron intestinal absorption and iron deposition in several organs, such as the liver, heart, skin, and pancreas. The clinical presentation includes the triad of cirrhosis, diabetes, and skin bronzing. Other findings depend on the organ(s) involved. Diagnosis consists of iron studies, showing transferrin (Tf) and ferritin elevation. Genetic screening is recommended among family members. Imaging and invasive studies are performed depending on the associated complications. Management requires phlebotomy (or iron chelation therapy in some cases) to prevent disease progression. The prognosis is good for patients who are early in the disease and undergoing treatment. The presence of hepatic fibrosis is a poor prognostic factor.

Cholelithiasis (gallstones) is the presence of stones in the gallbladder. Most gallstones are cholesterol stones, while the rest are composed of bilirubin (pigment stones) and other mixed components. Patients are commonly asymptomatic but may present with biliary colic (intermittent pain in the right upper quadrant). The diagnosis is established by ultrasound. Management options include supportive care to prevent and control associated symptoms. When indicated, cholecystectomy is the definitive treatment. Gallstones may lead to complications such as choledocholithiasis (a stone trapped in the common bile duct), cholecystitis (inflammation of the gallbladder), or cholangitis (biliary sepsis). These conditions require urgent medical attention.

Hepatic encephalopathy is a reversible condition in which elevated ammonia levels cause impaired brain function in patients with advanced liver disease. Hepatic encephalopathy can be precipitated by conditions that affect the normal absorption, metabolism, or clearance of ammonia, including dehydration, renal failure, infections, and gastrointestinal bleeding. Patients present with a progression of symptoms, from minimal confusion and asterixis to stupor and coma. Diagnosis is clinical and requires the exclusion of alternative diagnoses. Management involves addressing the causative factor and decreasing the systemic absorption of ammonia with lactulose or rifaximin.

Hepatorenal syndrome (HRS) is a potentially reversible cause of acute kidney injury that develops secondary to liver disease. The main cause of HRS is hypovolemia, often as a result of forced diuresis or drainage of ascites. This leads to renal vasoconstriction resulting in hypoperfusion of the kidneys. Patients typically present with edema, oliguria or anuria, and ascites in the setting of acute or chronic liver injury. Hepatorenal syndrome is considered a diagnosis of exclusion. Treatment is with agents that cause systemic vasoconstriction and, therefore, improve renal perfusion. This includes octreotide and midodrine. Most cases of hepatorenal syndrome have a poor prognosis.

Autoimmune hepatitis (AIH) is a rare form of chronic liver disease in which the immune system attacks the liver causing inflammation. It predominantly affects women. Clinical presentation ranges from asymptomatic cases to patients that present with symptoms of acute liver failure (jaundice, right upper quadrant pain). Because AIH has a 40% mortality in 6 months without treatment, early diagnosis and treatment are imperative. Diagnosis is established by detecting anti-smooth muscle antibodies and performing a confirmatory liver biopsy. Treatment includes corticosteroids and azathioprine. If treatment is initiated early in the disease course, the prognosis is favorable.