Tumors of Liver and metabolic Dx Flashcards
Describe the clinical findings and pathophysiology of the common inborn errors of metabolism (Wilson disease, hemochromotosis, alpha-one antitrypsin deficiency) Compare and contrast the clinicopathologic features of benign liver tumors (Hemangioma, focal nodular hyperplasia, adenoma) Compare and contrast the clinicopathologic features of malignant liver tumors (metastasis, cholangiocarcinoma, hepatoceulluar carcinoma)
most common form of hereditary hemochromatosis
AR dx of adult onset caused by mutations in the HFE gene produing hepcidin
ways to get secondary iron overload
multiple transfusions, ineffective erythropeosis, increased iron intake
major other diseases in hemochromatosis
cirrohosis, diabetes, and skin pigmentation
pathogenesis of hereditary hemochromatosis
defect in regulation of intestinal absorption of dietary iron
ways excess iron damages tissue
lipd peroxidation
stimulation of collagen formation
direct interactions of iron with DNA
morpholoc changes in hemochromatosis are responses to
deposition of hemosiderin in the liver, pancreas, heart and other organs
hepatomegaly, skin pigmentation, deranged glucose homeostatis/Diabetes, atypical arthritis
hemochromatosis
treatment for hemochromatosis
phlebotomy
genetic cause of wilson’s disease
loss of function in ATP7B gene on Chromosome 13
patheogenesis of wilson’s disease
lasck of ATP7B activity keeps copper from being excreted into bile, so then accumulates in hepatocytes
method of cellular damage in Wilson’s disease
excecc copper: Promotes free radicals, binds to sulfydryl groups of cellular proteins, and displaces other metals in hepatic metalloenzymes
Free copper damages red cells
main sx of Wilsons dx
green-brown rings in eyes
gross organ damage in Wilsons disease
fatty liver, hepatitis like injury progessing to cirhoisiss, basal ganglia damage, ele lesions
acute or chronic liver dx with psychosis, parkinson-like disease, and eye rings
Wilson disease
liver disease plus liver disease equals
a1 antitrypsin deficiency
PiZZ genotype
a1 antitrypsin deficiency
periodic acid-schiff stain showing magenta cytoplasmic granules
a1 antitrypsin deficiency
most common benign lesion of liver
cavernous hemangioma
what NOT to do in a cavernous hemangioma
stick a needle in one
discreete red-blue, soft nodules just below the capsule
cavernous hemangioma
loalized, well-demarceted, poorly encapsulated lesion with a central fibrous scar
focal nodular hyperplasia
occurs in women of child bearing age taking OCPs
hepatic adenoma
well-demarcated but unencapsulated pale, yellow-tan or bile colored lesion
hepatic adenoma
risks of hepatic adenoma
can rupture, particularly in pregnancy, Can possible turn into hepatocellular carcinoma
