Path-Interited & Metabolic Flashcards Preview

Gastrointestinal > Path-Interited & Metabolic > Flashcards

Flashcards in Path-Interited & Metabolic Deck (23):
1

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

late adolescence; 40

2

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

later (due to menstrual bleeding)

3

what is the best imaging technique to assess liver iron content

MRI

4

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

decrease

5

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

spleen

6

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

yellow-brown refractile granules; blue

7

iron deposition tends to accumulate in the ____ hepatocytes

periportal

8

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

arthropathy, increased pigmentation, diabetes, infertility, cardiac

9

the long-term consequence of hemachromatosis is?

cirrhosis

10

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

ductal epithelium, endothelium

11

what causes increased iron in patients with hemachromatosis?

excess absorption by the gut

12

what causes tissue injury in hemachromatosis?

iron-induced reactive oxygen species

13

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

increased

14

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

frequent phlebotomy (better than chelation tx)

15

lab abnormalities seen in hemachromatosis include?

elevated transferrin saturation and elevated serum ferritin

16

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

genetic testing, liver biopsy

17

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

iron chelation therapy only (cannot do phlebotomy)

18

in Wilson's disease, excess copper accumulates because?

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

19

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

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

20

where does excess copper accumulate?

liver, kidneys, brain, joints, cornea

21

tests for suspected Wilson dz

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

22

histology of copper accumulation in liver shows?

red-brown cytoplasmic granules in periportal hepatocytes

23

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

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