U World Q ID: 395

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A genetic abnormality of a specific protein in intestinal epithelia cells is dx in an asymptomatic 20 yo caucasian male. Abnormality prevents expression of a the protein on the basolateral surface of the intestinal cells where it normal binds to transferrin receptor and regulates transferrin/iron complex into the cells. Risk of developing?

a. Iron def anemia.
b. Liver Cirrhosis and HCC
c.
d.
e.

Why is it B and not A? Whats in stem that i missed and chose the wrong answer? Is it because if the answer were to be IDA then other symptoms such as lab values/koiloneckia, plummer vinson would have been given or mentioned?

Thanks.

Originally Posted by RedSoxSuck

A genetic abnormality of a specific protein in intestinal epithelia cells is dx in an asymptomatic 20 yo caucasian male. Abnormality prevents expression of a the protein on the basolateral surface of the intestinal cells where it normal binds to transferrin receptor and regulates transferrin/iron complex into the cells. Risk of developing?

a. Iron def anemia.
b. Liver Cirrhosis and HCC
c.
d.
e.

Why is it B and not A? Whats in stem that i missed and chose the wrong answer? Is it because if the answer were to be IDA then other symptoms such as lab values/koiloneckia, plummer vinson would have been given or mentioned?

Thanks.

The stem is talking about hereditary hemochromatosis...in which can lead to liver cirrhosis and HCC...i believe...correct me if i am wrong somebody

I remember this question lol. I chose B over A because I knew that iron regulation was tightly regulated. Remember... its really hard for your body to get rid of iron and from Pathoma I could not recall any transport mutations leading to iron deficiency anemia. Its definitely hemochromatosis

This question is definitely talking about hereditary hemochromatosis which involves a mutation in the HFE gene (C282Y). HFE gene encodes for the HFE protein which is a membrane protein that regulates iron absorption in intestinal cell. I believe the regulation is done by modulating the interaction between transferrin and the transferrin receptor.

Yea, It has to do with Hemochromatosis. Before picking the wrong answer, i knew the definition of answer choice a (meaning it was hemochromatosis) but I think i got confused because its the same mechanism (transferrin, ferroportin etc) for iron regulation. So i figured HELL it could be A or B.

I guess since they went out of their way to exclude all the lab values and include iron regulation, they were "hinting" at hemochromatosis rather than IDA.