Inherited Liver Dz

Question 1

What is hepcidin?

Answer 1

a hormon integral in the regulation of the absorption of iron.

Question 2

does hepcidin inhibit or activate the release of iron from the RE cell?

Answer 2

inhibits it

Question 3

what is genetic hemachromatosis?

Answer 3

iron overload and end organ dz from genetic defects of regulatory proteins of iron absorption

Question 4

what is type i hemachromatosis?

Answer 4

classic associated with hfe gene

Question 5

what is the hfe protein?

Answer 5

a protein that causes the downregu of hepcidin gene and increaed absorption of iron through small intestine

Question 6

what is the specific mutation of hfe gene in type i hemachromatosis?

Answer 6

c282 y

Question 7

What are clinical fts of hemochromatosis type of hfe associated

Answer 7

adult onset men 40 women 50
fatigue arthritis
cirrhosis, hcc
restrictive cardiomyopathy
diabetes

Question 8

mri comparison of spleen and liver will show what with hemochromatosis?

Answer 8

a darker liver than spleen

Question 9

what is type two hemochromatosis due to?

Answer 9

lack of hepcidin

Question 10

when does type ii hemo present

Answer 10

10-15 yo with more cardiac involvement

Question 11

what is the mutation in type iii hemo?

Answer 11

transferrin receptor mutation (similar to type i)

Question 12

what is mut in type iv

Answer 12

ferroportin mutation leading to mild anemia

Question 13

Which types of hemochro present with endocrine problems of hypogonadism, hypothyroidism and diabetes?

Answer 13

2 and 3

Question 14

when do we see cardiomyopathy and heart failure

Answer 14

type ii hfe

Question 15

why does iron overload affect tissues?

Answer 15

iron generates free radicals which result in injury

Question 16

what are lab abnormalities suggesting hemochromatosis

Answer 16

elevated transferring sat
elevated ferritin
normal hematocrity (no anemia)
tissue iron overlod

Question 17

What is the normal transferring sat level?

Answer 17

33, over 45% and you should suspect hemochromatosis

Question 18

what are iron overload cases not associated with hemochromatosis?

Answer 18

multiple transfussions ie thalassemia, sickle cell, aplastic anemia

massive increase in iron intake

Question 19

when may you see an extremely high ferritin level?

Answer 19

hiv with disseminated histo or tb

hemophagocytic lymphohistiocytosis

Question 20

how do you tx hemochromatosis?

Answer 20

phlebotomy or iron chelating agents

Question 21

what should you avoid in hemochromatosis?

Answer 21

vit c  (can cause arrhythmias)
alcohol

Question 22

what bacteria are commonly seen in ppl with hemochromatosis?

Answer 22

listeria and yersinia

Question 23

what is wilson’s dz?

Answer 23

disease caused by too much copper

Question 24

what organs are affected with wilson’s dz?

Answer 24

liver, brain, kidneys

Question 25

what is the common physical finding in wilson's dz

Answer 25

keyser-fleischer ring

Question 26

what is fulminant liver dz and when do you see it?

Answer 26

acute presentation of chronic dz with liver failure: encephalopathy hemolytic anemia (coombs neg) low serum alk phos

Question 27

what is the genetic deficiency in wilson's disease?

Answer 27

atpb7

Question 28

when should you suspect wilsonS?

Answer 28

under forty with increased ast/alt neuropsych pt with liv dz any young pt with lv dz

Question 29

how can we screen for wilsons?

Answer 29

check the serum ceruloplasmin which is low in 95% of pts

Question 30

free copper of what is characteristic of wilsons/

Answer 30

over 25 total copper is low however because of low ceruloplasmin levels

Question 31

why is genetic testing difficlut for wilsons?

Answer 31

there is great polymorphism in the gene associated with wilsons

Question 32

young pts liver dz and neuro problems

Answer 32

suspect wilsons in ddx

Question 33

how do you tx wilsons?

Answer 33

chelating agents ie penicillamine | zinc

Question 34

what is alpha 1 antitrypsin def?

Answer 34

a lack of the enzyme responsible for neutralizing neutrophil elastase activity

Question 35

what genotype do you ahve to have to get a-1 antitrypsin def syndrome

Answer 35

zz

Question 36

what other organ will a1-antritrypsin def elad to

Answer 36

emphysema in the lungs esp in smokers

Question 37

when do you suspect a1antitryp def

Answer 37

emphysema with liv dz | emphysema in non-smokers

Question 38

what genetic conditions lead to drastically increased risk of hcc

Answer 38

hemochromatosis and alpha1at

Question 39

between hemochromatosis, wilsons, and alpha1at, what has the best change at cure with liver transplant?

Answer 39

wilsons will not recur, brain may get better a1at - only cures hep problems, emphysema stays hemochrom - doesn't help cardiac problems but typically not recurring