Pathology of the liver IV

Question 1

what is hereditary hemochromatosis?

Answer 1

inherited disorder that increases the amount of iron that the body absorbs from the gut

Question 2

most cases of hereditary hemochromatosis are caused by mutations in what gene?

Answer 2

HFE

Question 3

what does HFE code for?

Answer 3

membrane protein regulating interaction of transferrin receptors with transferrin

Question 4

is hepcidin increased or decreased in hereditary hemochromatosis?

Answer 4

decreased

Question 5

what are the lab values for serum ferritin, transferrin saturation, and hepatic iron index in hereditary hemochromatosis?

Answer 5

serum ferritin over 300 (more than double)
transferrin saturation more than double
hepatic iron index greater than double

Question 6

what warrants genetic testing for hereditary hemochromatosis?

Answer 6

high transferrin saturation and ferritin concentration

Question 7

iron overload due to hereditary hemochromatosis can lead to what complications / conditions?

Answer 7

diabetes 
cardiomyopathy 
hypogonadism 
skin pigmentation 
pseudo-gout

Question 8

what are the causes of secondary iron overload?

Answer 8

THALAS

transfusions 
hemochromatosis, neonatal 
alimentary (Bantu) 
liver disease 
anemia, congenital (thalassemia) 
sideroblastic anemia

Question 9

where is ceruloplasmin synthesized? what is its role?

Answer 9

liver

copper transporter

Question 10

what are the ceruloplasmin levels in wilson disease?

Answer 10

low

Question 11

what are the main organs affected by wilson disease?

Answer 11

liver, brain

Question 12

what is the inheritance of wilson disease?

Answer 12

autosomal recessive

Question 13

what characterizes wilson disease?

Answer 13

impaired copper biliary excretion

copper accumulation

Question 14

what is the normal role of ATP7B?

Answer 14

shuttles copper from TGN to biliary system in hepatocytes

Question 15

what lab values constitute diagnosis for wilson disease?

Answer 15

decreased serum CP
increased hepatic copper
increased urinary copper
kaiser fleischer rings

Question 16

what is the inheritance of a1AT deficiency?

Answer 16

autosomal recessive

Question 17

what genotype is associated with a1AT deficiency?

Answer 17

PiZZ genotype

Question 18

a1AT deficiency is due to misfolding of what protein?

Answer 18

PiZ

Question 19

what is the pathogenesis of a1AT deficiency?

Answer 19

accumulation of PiZ in hepatocytes

reduced intracellular protein degradation

increased autophagocytosis

Question 20

what lab values constitute diagnosis for a1AT deficiency?

Answer 20

low serum a1AT
abnormal electrophoretic a1AT
liver biopsy

Question 21

a1AT patients suffer from what condition?

Answer 21

pan-acinar emphysema

Question 22

which type of liver lesion is usually very benign?

Answer 22

focal nodular hyperplasia

Question 23

what are the features of focal nodular hyperplasia?

Answer 23

solitary mass
central scar
fibrous septa

Question 24

what are the features of nodular regenerative hyperplasia?

Answer 24

nodules WITHOUT fibrous septa
portal HTN

regeneration gone awry

Question 25

nodular regenerative hyperplasia can lead to what condition?

Answer 25

noncirrhotic portal HTN

Question 26

nodular regenerative hyperplasia is usually treated with what procedure?

Answer 26

TIPS transjugular intrahepatic portal systemic shunt

Question 27

what is the most common benign hepatic tumor?

Answer 27

hemangioma

Question 28

hemangiomas are often associated with what medication?

Answer 28

oral contraceptives

Question 29

what is the morphology of hemangiomas?

Answer 29

solitary mass

Question 30

liver cell adenoma usually affects what population?

Answer 30

young women

Question 31

liver cell adenoma is associated with what condition?

Answer 31

glycogen storage disease

Question 32

what is the most common primary malignant liver tumor?

Answer 32

hepatocellular carcinoma

Question 33

what is the major risk factor hepatocellular carcinoma?

Answer 33

cirrhosis

Question 34

what tests are used to image hepatocellular carcinoma?

Answer 34

US angiography CT MRI

Question 35

what lab test indicates hepatocellular carcinoma?

Answer 35

AFP over 1000 alpha fetoprotein

Question 36

cholangiocarcinoma affects what tissue?

Answer 36

bile duct epithelium

Question 37

how does fibrolamellar hepatocellular carcinoma affect prognosis?

Answer 37

good prognosis

Question 38

what is the most common primary malignant hepatic tumor in children? what is the diagnostic lab value?

Answer 38

hepatoblastoma very high AFP

Question 39

angiosarcoma usually affects what population? what is the prognosis?

Answer 39

men in 5th and 6th decade poor

Question 40

which primary tumors typically metastasize to the liver?

Answer 40

``` GI breast lung pancreas melanoma ```