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GI > Inherited Liver Dz > Flashcards

Inherited Liver Dz Flashcards

1
Q

What is hepcidin?

A

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

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2
Q

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

A

inhibits it

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3
Q

what is genetic hemachromatosis?

A

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

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4
Q

what is type i hemachromatosis?

A

classic associated with hfe gene

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5
Q

what is the hfe protein?

A

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

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6
Q

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

A

c282 y

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7
Q

What are clinical fts of hemochromatosis type of hfe associated

A 
adult onset men 40 women 50
fatigue arthritis
cirrhosis, hcc
restrictive cardiomyopathy
diabetes
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8
Q

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

A

a darker liver than spleen

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9
Q

what is type two hemochromatosis due to?

A

lack of hepcidin

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10
Q

when does type ii hemo present

A

10-15 yo with more cardiac involvement

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11
Q

what is the mutation in type iii hemo?

A

transferrin receptor mutation (similar to type i)

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12
Q

what is mut in type iv

A

ferroportin mutation leading to mild anemia

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13
Q

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

A

2 and 3

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14
Q

when do we see cardiomyopathy and heart failure

A

type ii hfe

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15
Q

why does iron overload affect tissues?

A

iron generates free radicals which result in injury

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16
Q

what are lab abnormalities suggesting hemochromatosis

A

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

17
Q

What is the normal transferring sat level?

A

33, over 45% and you should suspect hemochromatosis

18
Q

what are iron overload cases not associated with hemochromatosis?

A

multiple transfussions ie thalassemia, sickle cell, aplastic anemia

massive increase in iron intake

19
Q

when may you see an extremely high ferritin level?

A

hiv with disseminated histo or tb

hemophagocytic lymphohistiocytosis

20
Q

how do you tx hemochromatosis?

A

phlebotomy or iron chelating agents

21
Q

what should you avoid in hemochromatosis?

A 
vit c  (can cause arrhythmias)
alcohol
22
Q

what bacteria are commonly seen in ppl with hemochromatosis?

A

listeria and yersinia

23
Q

what is wilson’s dz?

A

disease caused by too much copper

24
Q

what organs are affected with wilson’s dz?

A

liver, brain, kidneys

25
Q

what is the common physical finding in wilson’s dz

A

keyser-fleischer ring

26
Q

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

A

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

27
Q

what is the genetic deficiency in wilson’s disease?

A

atpb7

28
Q

when should you suspect wilsonS?

A

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

29
Q

how can we screen for wilsons?

A

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

30
Q

free copper of what is characteristic of wilsons/

A

over 25

total copper is low however because of low ceruloplasmin levels

31
Q

why is genetic testing difficlut for wilsons?

A

there is great polymorphism in the gene associated with wilsons

32
Q

young pts liver dz and neuro problems

A

suspect wilsons in ddx

33
Q

how do you tx wilsons?

A

chelating agents ie penicillamine

zinc

34
Q

what is alpha 1 antitrypsin def?

A

a lack of the enzyme responsible for neutralizing neutrophil elastase activity

35
Q

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

A

zz

36
Q

what other organ will a1-antritrypsin def elad to

A

emphysema in the lungs esp in smokers

37
Q

when do you suspect a1antitryp def

A

emphysema with liv dz

emphysema in non-smokers

38
Q

what genetic conditions lead to drastically increased risk of hcc

A

hemochromatosis and alpha1at

39
Q

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

A

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

GI (40 decks)

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