Path-Interited & Metabolic Flashcards
in a male with hemachromatosis, increased liver iron would become detectale by ______, and may result in cirrhosis as early as age ____
late adolescence; 40
ESLD from hereditary hemachromatosis presents about 15 years ____ than in men
later (due to menstrual bleeding)
what is the best imaging technique to assess liver iron content
MRI
on MRI, iron causes a ____ in signal intensity of hepatic parenchyma
decrease
the signal intensity of the liver, heart, and pancreas should be compared to the ____ to determine whether there is decreased signal from iron
spleen
iron can be demonstrated within the cytoplasm as? and takes on a ____ color with special stain
yellow-brown refractile granules; blue
iron deposition tends to accumulate in the ____ hepatocytes
periportal
hemachromatosis may lead to (increased/decreased) liver size, as well as what extrahepatic sx?
arthropathy, increased pigmentation, diabetes, infertility, cardiac
the long-term consequence of hemachromatosis is?
cirrhosis
in addition to hepatocytes, what other cells of the liver may show iron accumulation?
ductal epithelium, endothelium
what causes increased iron in patients with hemachromatosis?
excess absorption by the gut
what causes tissue injury in hemachromatosis?
iron-induced reactive oxygen species
patients with cirrhosis secondary to hemachromatosis are at (increased/decreased) risk of HCC relative to other causes of cirrhosis
increased
how can you prevent iron overload and liver injury in a pt with hemachromatosis?
frequent phlebotomy (better than chelation tx)
lab abnormalities seen in hemachromatosis include?
elevated transferrin saturation and elevated serum ferritin
primary hemachromatosis can be diagnosed through _____, or through _____ if the first does not detect dz
genetic testing, liver biopsy
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)
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
most patients with Wilson dz present during ____ with one of three presentation:
adolescence/early adulthood; acute liver failure, chronic hepatitis, or cirrhosis
where does excess copper accumulate?
liver, kidneys, brain, joints, cornea
tests for suspected Wilson dz
urine copper level (high), transaminase (moderately elevated), Ceruplasmin (low)
histology of copper accumulation in liver shows?
red-brown cytoplasmic granules in periportal hepatocytes
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)
