Hemo mehlman 2nd and 3rd 12-09 (1)

Question 1

Hereditary hemochromatosis is .. what genetic, what gene

Answer 1

Hereditary hemochromatosis is AR, chromosome 6, HFE gene

Question 2

Hereditary hemochromatosis most common mutations?

Answer 2

Most common mutations are C282Y and H63D missense.

Question 3

Heavy metal disorders are AR. So Wilson disease is also AR.

Answer 3

.

Question 4

Hereditary hemochromatosis mechanism of iron?

Answer 4

Causes increased duodenal iron absorption.

Question 5

Hereditary hemochromatosis. how body dispose iron?

Answer 5

Body has very limited mechanisms to naturally dispose of iron. May do so via shedding of skin, or in women, menstruation.

Question 6

Hereditary hemochromatosis on heart? 2

Answer 6

Can cause dilated or restrictive cardiomyopathy.

Question 7

Hereditary hemochromatosis restrictive heart –> symptoms?

Answer 7

you’ll get JVD, peripheral edema, HSM, etc.

Question 8

Hereditary hemochromatosis dilated heart –> symptoms?

Answer 8

S3, big heart, crackles in the lungs.

Question 9

Hereditary hemochromatosis and primary hyperparathyroidism are key causes of …..

Answer 9

pseudogout

Question 10

How present pseudogout in hereditary hemochromatosis?

Answer 10

will present as either a monoarthritis of a large joint such as the knee, or as an osteoarthritis-like presentation of the hands.

Question 11

osteoarthritis-like presentation of the hands - shows up in hemochromatosis.

Answer 11

.

Question 12

So if you get DIP involvement in someone with hemochromatosis, answer …..

Answer 12

answer is pseudogout, not OA.

Question 13

Can also acquire secondary hemochromatosis (i.e., non-hereditary) from ……. how is it called?

Answer 13

from chronic blood transfusions. This is called transfusional siderosis.

Question 14

hereditary hemochromatosis treatment?

Answer 14

serial phlebotomy

Question 15

secondary hemochromatosis treatment?

Answer 15

with chelation therapy (i.e., deferoxamine)

Question 16

Anemia of chronic disease (AoCD). Hb and Hct?

Answer 16

low

Question 17

anemia of chronic disease (AoCD), MCV?

Answer 17

normal

Question 18

anemia of chronic disease (AoCD), ferritin?

Answer 18

normal/incr.

Question 19

anemia of chronic disease (AoCD) iron serum?

Answer 19

low

Question 20

anemia of chronic disease (AoCD) bone marrow iron?

Answer 20

high

Question 21

anemia of chronic disease (AoCD) transferin saturation?

Answer 21

normal/decr

Question 22

anemia of chronic disease (AoCD). Can be due any type of chronic disease, e.g., RA, SLE, IBD; can also be due to chronic infections like HepC.

Answer 22

.

Question 23

anemia of chronic disease (AoCD). if renal failure is etiology, what treatment?

Answer 23

EPO

Question 24

anemia of chronic disease (AoCD). if renal failure is NOT etiology, what treatment?

Answer 24

CANNOT give EPO and you treat underlying condition.

Question 25

AoCD is usually normal MCV (80-100), but some 2CK Qs are presenting with low MCV.

Answer 25

.

Question 26

For instance, if Q is presentation with a kid who has obvious JRA (Still disease) – salmon rash (about half the time), high ESR, recurrent joint pain – and MCV is, e.g., 72, answer is still AoCD if anemia is present.

Answer 26

.

Question 27

Transferrin saturation = formula?

Answer 27

Transferrin saturation = Fe / TIBC (total iron binding capacity)

Question 28

AoCD transferin?

Answer 28

low

Question 29

AoCD. transferrin saturation low or normal (bc TIBC is low, bc transferrin low)

Answer 29

.

Question 30

Iron deficiency: iron and ferritin?

Answer 30

low

Question 31

Iron deficiency transferin?

Answer 31

high

Question 32

Iron deficiency transferin saturation?

Answer 32

transferrin saturation super low (bc TIBC very high, since transferrin high)