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Heme Midterm 3 > Porphyrias > Flashcards

Porphyrias Flashcards

1
Q

mechanism of porphyria diseases

A

problem with enzyme in production of the porphyrin ring for heme leads to build up of oxidizing metabolites that can damage tissues

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2
Q

what cell is heme made in?

A

all damn cells

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3
Q

how do we induce ALAS1 and AIP porphyrias?

A

depletion of hepatic pool of heme, drugs/hormones inducing CYPs, caloric or carb restriction, metabolic stress

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4
Q

What does ALAS stand for?

A

Aminolevulinic acid synthetase

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5
Q

What is the reaction with ALAS?

A

turning succinyl coa and glycine into aminolevulinic acid

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6
Q

Why is ALAS important?

A

if we have condition that induces ALAS but there is a downstream porphyria then we will get build up of the porphyrin metabolites and worsening porphyria

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7
Q

Acute intermittent porphyria inheritance pattern and enzyme affected

A

dominant, hepatic PBG deaminase

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8
Q

what is the likely onset of acute intermittent porphyria and what drives this?

A

puberty…sex hormones

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9
Q

what two molecules will build up in acute intermittent porphyria?

A

ALA and PBG…seen in urine!

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10
Q

in addition to the PBGD mutation in acute intermittent porphyria, what else is needed to see the disease?

A

induction of ALAS1 (drugs commonly)

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11
Q

what happens to urine after a AIP attack?

A

will turn dark brown in sun light

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12
Q

what happens to hypothalamus in AIP attack?

A

low sodium

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13
Q

what are the GI symptoms in AIP attack?

A

abdominal pain without inflammatory markers, will not be bothered by touching the peritoneal cavity like woulld be with appendicitis

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14
Q

what are the neuro findings in AIP attack?

A

sensory and motor issues, motor can lead to paralysis and respiratory impairment, seizures

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15
Q

what happens cardiovascularly with AIP attack?

A

increased heart rate and pressure

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16
Q

can smoking induce an acute attack?

A

YES

17
Q

how to diagnose AIP attack?

A

send ALA and PBG levels…if high send PBGD activity test

18
Q

two things to give in IV for AIP attack?

A

glucose…and hematin

19
Q

what is hematin and why do we give it in AIP attack?

A

old heme from RBCs…will tell enzymes to stop making the shit metabolites AKA ALA

20
Q

Porphyria cutanea tarda enzyme problem

A

uroporphyrinogen decarboxylase deficiency

21
Q

is PCT inherited or acquired?

A

both

22
Q

how males and females get PCT?

A

males drink too much booze
females take estrogen
both usually have an iron overload

23
Q

PCT associated disorders (3)

A

Hep C
hemachromatosis
alcoholism

24
Q

what is hemochromatosis

A

disorder leading to increased iron uptake and storage

25
Q

how does PCT affect the skin?

A

the uroporphyrinogen builds up and deposits in the skin, where it can be oxidized by sunlight and makes blisters that are very painful

26
Q

what two things are you at risk for with PCT?

A

cirrhosis and hepatocellular carcinoma

27
Q

treatment for PCT?

A

avoid sun and use phlebotomy to rid of excess iron

28
Q

what are the five most common places to find lead?

A

old pipes, leaded gas, leaded paint, moonshine, bullets

29
Q

what is the common mode of lead poisoning in adults and then in kids?

A

inhalation for adults and ingestion for kids

30
Q

where is most of the body lead found?

A

99% in blood…then goes into storage in bone about 95%

31
Q

what are the two enzymes that lead interferes with in heme synthesis?

A

ALAS1 and ferrochelatase

32
Q

what is seen in RBC stains after lead poisioning and why?

A

basophilic stippling…because RNA is broken down in the RBCs

33
Q

what does basophilic stippling look like?

A

coarse dark blue inclusions in an RBC

34
Q

lead toxicity symptoms

A

GI cramping
microcytic anemia
neuro issues like confusion/seizure

35
Q

classic lead poisoning motor problem

A

wrist and foot drop

36
Q

lead lines in lead poisoning

A

bluish lines along gum lines

37
Q

what cardiac problem can lead poisoning cause?

A

hypertension

38
Q

how to diagnose lead poisoning?

A

get venous blood lead levels, easy as that

39
Q

how to treat lead poisoning?

A

reduce exposure and chelate

Heme Midterm 3 (10 decks)

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