Pathology of the liver IV Flashcards
what is hereditary hemochromatosis?
inherited disorder that increases the amount of iron that the body absorbs from the gut
most cases of hereditary hemochromatosis are caused by mutations in what gene?
HFE
what does HFE code for?
membrane protein regulating interaction of transferrin receptors with transferrin
is hepcidin increased or decreased in hereditary hemochromatosis?
decreased
what are the lab values for serum ferritin, transferrin saturation, and hepatic iron index in hereditary hemochromatosis?
serum ferritin over 300 (more than double)
transferrin saturation more than double
hepatic iron index greater than double
what warrants genetic testing for hereditary hemochromatosis?
high transferrin saturation and ferritin concentration
iron overload due to hereditary hemochromatosis can lead to what complications / conditions?
diabetes cardiomyopathy hypogonadism skin pigmentation pseudo-gout
what are the causes of secondary iron overload?
THALAS
transfusions hemochromatosis, neonatal alimentary (Bantu) liver disease anemia, congenital (thalassemia) sideroblastic anemia
where is ceruloplasmin synthesized? what is its role?
liver
copper transporter
what are the ceruloplasmin levels in wilson disease?
low
what are the main organs affected by wilson disease?
liver, brain
what is the inheritance of wilson disease?
autosomal recessive
what characterizes wilson disease?
impaired copper biliary excretion
copper accumulation
what is the normal role of ATP7B?
shuttles copper from TGN to biliary system in hepatocytes
what lab values constitute diagnosis for wilson disease?
decreased serum CP
increased hepatic copper
increased urinary copper
kaiser fleischer rings
what is the inheritance of a1AT deficiency?
autosomal recessive
what genotype is associated with a1AT deficiency?
PiZZ genotype
a1AT deficiency is due to misfolding of what protein?
PiZ
what is the pathogenesis of a1AT deficiency?
accumulation of PiZ in hepatocytes
reduced intracellular protein degradation
increased autophagocytosis
what lab values constitute diagnosis for a1AT deficiency?
low serum a1AT
abnormal electrophoretic a1AT
liver biopsy
a1AT patients suffer from what condition?
pan-acinar emphysema
which type of liver lesion is usually very benign?
focal nodular hyperplasia
what are the features of focal nodular hyperplasia?
solitary mass
central scar
fibrous septa
what are the features of nodular regenerative hyperplasia?
nodules WITHOUT fibrous septa
portal HTN
regeneration gone awry
nodular regenerative hyperplasia can lead to what condition?
noncirrhotic portal HTN
nodular regenerative hyperplasia is usually treated with what procedure?
TIPS
transjugular intrahepatic portal systemic shunt
what is the most common benign hepatic tumor?
hemangioma
hemangiomas are often associated with what medication?
oral contraceptives
what is the morphology of hemangiomas?
solitary mass
liver cell adenoma usually affects what population?
young women
liver cell adenoma is associated with what condition?
glycogen storage disease
what is the most common primary malignant liver tumor?
hepatocellular carcinoma
what is the major risk factor hepatocellular carcinoma?
cirrhosis
what tests are used to image hepatocellular carcinoma?
US
angiography
CT
MRI
what lab test indicates hepatocellular carcinoma?
AFP over 1000
alpha fetoprotein
cholangiocarcinoma affects what tissue?
bile duct epithelium
how does fibrolamellar hepatocellular carcinoma affect prognosis?
good prognosis
what is the most common primary malignant hepatic tumor in children? what is the diagnostic lab value?
hepatoblastoma
very high AFP
angiosarcoma usually affects what population? what is the prognosis?
men in 5th and 6th decade
poor
which primary tumors typically metastasize to the liver?
GI breast lung pancreas melanoma
