Path-Interited & Metabolic

Question 1

in a male with hemachromatosis, increased liver iron would become detectale by ______, and may result in cirrhosis as early as age ____

Answer 1

late adolescence; 40

Question 2

ESLD from hereditary hemachromatosis presents about 15 years ____ than in men

Answer 2

later (due to menstrual bleeding)

Question 3

what is the best imaging technique to assess liver iron content

Answer 3

MRI

Question 4

on MRI, iron causes a ____ in signal intensity of hepatic parenchyma

Answer 4

decrease

Question 5

the signal intensity of the liver, heart, and pancreas should be compared to the ____ to determine whether there is decreased signal from iron

Answer 5

spleen

Question 6

iron can be demonstrated within the cytoplasm as? and takes on a ____ color with special stain

Answer 6

yellow-brown refractile granules; blue

Question 7

iron deposition tends to accumulate in the ____ hepatocytes

Answer 7

periportal

Question 8

hemachromatosis may lead to (increased/decreased) liver size, as well as what extrahepatic sx?

Answer 8

arthropathy, increased pigmentation, diabetes, infertility, cardiac

Question 9

the long-term consequence of hemachromatosis is?

Answer 9

cirrhosis

Question 10

in addition to hepatocytes, what other cells of the liver may show iron accumulation?

Answer 10

ductal epithelium, endothelium

Question 11

what causes increased iron in patients with hemachromatosis?

Answer 11

excess absorption by the gut

Question 12

what causes tissue injury in hemachromatosis?

Answer 12

iron-induced reactive oxygen species

Question 13

patients with cirrhosis secondary to hemachromatosis are at (increased/decreased) risk of HCC relative to other causes of cirrhosis

Answer 13

increased

Question 14

how can you prevent iron overload and liver injury in a pt with hemachromatosis?

Answer 14

frequent phlebotomy (better than chelation tx)

Question 15

lab abnormalities seen in hemachromatosis include?

Answer 15

elevated transferrin saturation and elevated serum ferritin

Question 16

primary hemachromatosis can be diagnosed through _____, or through _____ if the first does not detect dz

Answer 16

genetic testing, liver biopsy

Question 17

when hemachromatosis occurs due to transfusion-induced iron overload in a pt with hemolytic anemia, how are they treated?

Answer 17

iron chelation therapy only (cannot do phlebotomy)

Question 18

in Wilson’s disease, excess copper accumulates because?

Answer 18

a gene encoding the copper-transporting P-type ATPase ATP7B is mutated (autosomal recessive), and thus the pt cannot excrete excess copper

Question 19

most patients with Wilson dz present during ____ with one of three presentation:

Answer 19

adolescence/early adulthood; acute liver failure, chronic hepatitis, or cirrhosis

Question 20

where does excess copper accumulate?

Answer 20

liver, kidneys, brain, joints, cornea

Question 21

tests for suspected Wilson dz

Answer 21

urine copper level (high), transaminase (moderately elevated), Ceruplasmin (low)

Question 22

histology of copper accumulation in liver shows?

Answer 22

red-brown cytoplasmic granules in periportal hepatocytes

Question 23

the variably-sized granules of defective alpha1-antitrypsin that accumulate in the liver are best seen on?

Answer 23

PAS (dark pink blobs) or alpha-1 antitrypsin stain (brown)