Primary biliary cholangitis

Primary sclerosing cholangitis is an autoimmune fibroinflammatory disease of the large bile ducts, occurring mostly in young men and associated with inflammatory bowel disease, chiefly ulcerative colitis, in 80 to 90% of cases. MRCP showing multifocal strictures and dilations confirms the diagnosis, no drug alters progression, and management centers on endoscopic dilation of dominant strictures, surveillance for cholangiocarcinoma and colorectal cancer, and liver transplantation for advanced disease.

Autoimmune hepatitis is a chronic inflammatory hepatitis, four times more common in women, marked by elevated aminotransferases, autoantibodies, and hypergammaglobulinemia, confirmed by liver biopsy after excluding other causes. Treatment is immunosuppression with prednisone, usually combined with azathioprine, continued for at least 2 to 3 years before withdrawal is considered.

Cirrhosis is end-stage hepatic fibrosis with regenerative nodules, staged as compensated or decompensated by the onset of ascites, variceal hemorrhage, encephalopathy, or jaundice. Severity is graded by Child-Pugh class and MELD, and management centers on treating the underlying cause, surveillance for varices and hepatocellular carcinoma, and timely transplant referral once decompensation appears.

Portal hypertension is elevated pressure in the portal venous system, most often from cirrhosis, that drives the major decompensating complications of chronic liver disease: varices, ascites, splenomegaly, and encephalopathy. Diagnosis rests on imaging and endoscopy for its downstream signs, and management combines treating the underlying cause with nonselective beta-blockade and, for refractory complications, TIPS.

Hepatocellular carcinoma is a primary liver cancer that arises almost exclusively in cirrhosis and can be diagnosed non-invasively when multiphase CT or MRI shows arterial-phase hyperenhancement with portal-venous washout in a lesion at least 1 cm. Treatment is stratified by tumor burden, liver function, and vascular or extrahepatic spread, ranging from resection or ablation through transplantation and transarterial chemoembolization to systemic atezolizumab-bevacizumab for advanced disease.

Choledocholithiasis is a gallstone that has migrated into the common bile duct, causing obstructive jaundice and cholestatic liver chemistries and predisposing to acute cholangitis and gallstone pancreatitis. Risk is stratified by ASGE criteria and confirmed by MRCP, endoscopic ultrasound, or therapeutic ERCP, which clears the duct before same-admission cholecystectomy.

Osteoporosis is low bone strength that raises fragility fracture risk, diagnosed by a hip or spine T-score of -2.5 or less or by a fragility fracture itself. First-line treatment is an oral bisphosphonate, alendronate or risedronate, alongside adequate calcium and vitamin D intake.

Sarcoidosis is a multisystem granulomatous disease of unknown cause defined by noncaseating granulomas, most commonly involving the lungs and hilar lymph nodes. Most patients are asymptomatic or have a self-limited course staged by chest radiograph; symptomatic organ-threatening disease is treated with systemic glucocorticoids, with methotrexate or another steroid-sparing agent added for glucocorticoid-refractory or glucocorticoid-intolerant disease.

Hemochromatosis is a disorder of iron overload, most often hereditary HFE C282Y homozygosity causing hepcidin deficiency and excess intestinal iron absorption, that deposits iron in the liver, pancreas, heart, joints, skin, and pituitary. Screening rests on fasting transferrin saturation and ferritin, confirmation on HFE genetic testing, and treatment on regular therapeutic phlebotomy to a target ferritin of 50 to 100 ng/mL.

Wilson disease is an autosomal recessive disorder of the ATP7B copper-transporting ATPase causing toxic copper accumulation in the liver, brain, and cornea, presenting with hepatic and/or neuropsychiatric disease usually before age 40; diagnosis rests on ceruloplasmin, urinary copper, and Kayser-Fleischer rings, and lifelong treatment is chelation with penicillamine or trientine, or zinc, unless liver transplant is required.