Liver Diseases and Diagnostic Evaluation

Vocabulary flashcards on liver diseases, covering autoimmune hepatitis, fatty liver classifications, metabolic disorders, biliary tract pathology, and diagnostic liver function parameters.

Autoimmune Hepatitis (AIH)

A necroinflammatory disease of the liver characterized by the presence of specific autoantibodies, lymphoplasmacytic interface hepatitis, hypergammaglobulinemia ($\text{IgG}$ increase), and a favorable response to immunosuppressive therapy.

Type 1 AIH

The classic subtype of autoimmune hepatitis defined by positive antinuclear antibody (ANA) and anti-smooth muscle antibody (ASMA/F-actin), bimodal age onset (peaks at $10-20$ and $45-70$ years), $78\%$ female predominance, and association with HLA-B8, DR3, and DR4.

Type 2 AIH

A severe subtype of autoimmune hepatitis characterized by positive anti-liver/kidney microsomal antigen antibody (anti-LKM1), onset typically in children aged $2-14$ years, $89\%$ female predominance, association with HLA-B14 and DR3, and a higher rate of relapse.

Interface Hepatitis

The classic histological finding in autoimmune hepatitis, characterized by inflammatory infiltrates (predominantly lymphocytes and plasma cells) attacking the interface between the portal tract and hepatocytes.

Steatotic Liver Disease (SLD)

An overarching category of liver disorders characterized by hepatic steatosis, encompassing MASLD, MetALD, ALD, specific etiology SLD, and cryptogenic SLD.

Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD)

Hepatic steatosis (determined by imaging or histology) in the presence of at least one cardiometabolic syndrome criterion and in the absence of heavy alcohol use.

Metabolic Dysfunction-Associated Steatohepatitis (MASH)

A aggressive subtype of MASLD characterized by chronic hepatocellular lipid accumulation combined with inflammation and hepatocyte injury (ballooning degeneration and necrosis), which can progress to liver fibrosis, cirrhosis, and hepatocellular carcinoma.

MetALD

A diagnostic category for patients with underlying MASLD who also consume higher amounts of alcohol weekly ($140-350\,\text{g}$ for females, $210-420\,\text{g}$ for males).

Alcohol-Associated Steatosis

Accumulation of lipid droplets in hepatocytes resulting from alcohol consumption, which is typically asymptomatic and reversible upon cessation of alcohol intake.

Alcohol-Associated Hepatitis

An acute manifestation of alcoholic liver disease featuring macro-vesicular steatosis, hydropic swelling, and ballooning degeneration of hepatocytes, presenting clinically with acute jaundice, fever, anorexia, and tender hepatomegaly.

Zieve Syndrome

A rare complication occurring in individuals with alcoholic liver disease, characterized by the clinical triad of hemolytic anemia, jaundice, and hyperlipidemia.

Wilson Disease

An autosomal recessive disorder of copper metabolism caused by mutations in the $\text{ATP7B}$ gene, leading to decreased ceruloplasmin levels, impaired biliary copper excretion, and toxic copper accumulation in the liver, basal ganglia, cornea, and kidneys.

Kayser–Fleischer Rings

Yellowish-brown pigment rings in the cornea caused by excess copper deposition in patients with Wilson disease.

Hereditary Hemochromatosis

An autosomal recessive disorder of excessive intestinal iron absorption leading to systemic accumulation of iron (ferritin and hemosiderin), classically presenting with skin hyperpigmentation, diabetes mellitus, and cirrhosis ("bronze diabetes").

Budd-Chiari Syndrome

Occlusion of hepatic venous outflow (e.g., thrombosis of hepatic veins or IVC) leading to hepatic congestion, ischemia, hepatosplenomegaly, ascites, and portal hypertension.

Portal Vein Thrombosis

Thrombosis within the portal vein proximal to the liver causing portal hypertension, abdominal pain, and fever, typically without hepatomegaly unless preexisting liver disease is present.

Primary Biliary Cholangitis (PBC)

An autoimmune disorder classically affecting middle-aged females, characterized by lymphocytic infiltration and granulomatous destruction of intrahepatic bile ducts, positive antimitochondrial antibodies (AMA), and treatment response to ursodeoxycholic acid.

Primary Sclerosing Cholangitis (PSC)

A chronic cholestatic liver disease classically affecting middle-aged males, strongly associated with ulcerative colitis, characterized by p-ANCA positivity, concentric "onion skin" bile duct fibrosis, and multifocal strictures and dilations ("beading") on ERCP or MRCP.

Gilbert Syndrome

The most common inherited disorder of bilirubin metabolism, caused by reduced hepatic UDP-glucuronosyltransferase activity, resulting in mild recurrent unconjugated hyperbilirubinemia triggered by physical stress, fasting, or illness.

Cholestasis

Impairment or blockage of bile flow (intrahepatic or extrahepatic) leading to accumulation of conjugated bilirubin, marked elevation of serum alkaline phosphatase ($>10\text{-fold}$), pruritus, dark urine, and pale/gray stools.

Alanine Aminotransferase (ALT)

An enzyme localized primarily in hepatocytes, making it a highly sensitive and specific biomarker for acute hepatocellular damage compared to AST.

Aspartate Aminotransferase (AST)

An enzyme present in liver cells, skeletal muscle, cardiac muscle, RBCs, and brain; in alcoholic liver injury, severe mitochondrial injury and pyridoxal-5'-phosphate depletion cause an $\text{AST/ALT}$ ratio greater than $2$.