Bafl Exam 3: Porphyrias

Front 1

Draw out the chart

Back 1

P-P-P-P-PLEASE

Front 2

First pyrrole product in pathway?

Back 2

porphobilinogen (PBG)

Front 3

First tetrapyrrole product in pathway?

Back 3

hydroxymethybilane

Front 4

First oxidized product in pathway?

Back 4

protoporphyrinogen IX

Front 5

Prophyrins are activated by what UV range?

Back 5

400-410

Front 6

What are the prophyrias... 9 major products --> 9 diseases, 8 enzymes

Back 6

1. XLD protoporphyria (XLDPP)- GOF mutation in ALA synthase

2. ALA dehydratase deficiency porphyria (ALADD)

3. Acute Intermittent Porphyria (AIP)- loss of porphobilinogen deaminase

4. Congenital Erythropoeitic Porphyria (CEP)- decrease in uroporphyrinogen III synthetase

5. Porphyria Cutanea Tarda (PCT)- MC, defect in uroporphyrinogen decarboxylase

6. Hepatoerythropoetic Porphyria (HEP)- defect in uroporphyrinogen decarboxylase (same as PCT, but with increased RBC zinc proroporphyrin)

7. Hereditary Coproporphyria (HCP)- defect in corproporphyrinogen oxidase

8. Variegate Porphyria (VP)- defect in protoporphyrinogen oxidase

9. Erythropoeitic Porphyria (EPP)- defect in ferrochelatase

Front 7

What are the 4P's in AIP?

Back 7

Neuro/visceral only!!

pain (episodic abominal)

peripheral neurpathy

paralysis

psychiatric

Front 8

What differentiates Porphyria Cutanea Tarda (PCT) from Hepatoerythropoetic Porphyria (HEP)?

Back 8

both are a defect in uroporphyrinogen decarboxylase

same lab profile EXCEPT HEP has an increased RBC zinc-protoporphyrin

Front 9

Red urine in diapers? Defect?

Back 9

Congenital erythropoeitic porphyria

Cee Evil Pee (CEP)

Uroporphyrinogen III synthetase

Front 10

Red teeth? Defect?

Back 10

Congenital erythropoeitic porphyria

Uroporphyrinogen III synthetase

Ur t33th are colored

Front 11

Red gall stones? Defect?

Back 11

Congenital erythropoeitic porphyria

Uroporphyrinogen III synthetase

Front 12

Precipitants of porphyria cutanea tarda? Defect?

Back 12

Uroporphyrinogen decarboxylase

ETOH, estrogens, drugs, HCV, HIV, iron overload, hemodialysis, smoking , HCC

Front 13

Two types of PCT?

Back 13

Type I- sporadic, MC, decreased uroporphyrinogen decarboxylase in liver only, onset in 40s

Type II- familial, decreased uroporphyrinogen decarboxylase in all dissues, onset in 20s

Front 14

Pathomneumonic lab finding in PCT?

Back 14

Isocoproporphyrin in feces

Front 15

Does urine fluoresce in PCT?

Back 15

yes!! under Woods lamp

Front 16

Histopathology of PCT?

Back 16

cell poor sub epidermal split (THE P3 B3)

catepillar bodies (col IV and VII)

DIF shows IgG/C3 @DEJ and vessel walls

Front 17

Common culprits for pseudoporphyria?

Back 17

NSAIDS! mc naproxen

lasix

TCN

amiodarone

dapsone

PUVA

isotretinoin

tanning bed

hemodialysis

Front 18

Variegate porphyria is common in South Africa... acute attacks are precipitated by...

Back 18

fasting, fever, infection, pregnancy, ETOH, meds (barbs, griseofulvin, sulfonamide, estrogen)

Front 19

Erythropoietic porphyria defect? Labs?

Back 19

Ferrochelatase

transient fluorescence of greater than 623nm of circulating RBCs

elevated protoporphyrin IX in RBC/stool

no porphyrins in urine (EPP = empty pee pee)

Front 20

Plasma porphyrin fluorescence for variegate porphyria?

Back 20

626nm

Front 21

IMPORTANT LAB:

Acute intermittent porphyria

Back 21

no stool porphyrins (AIP- ain't in poo)

Front 22

IMPORTANT LAB:

Erythropoeitic porphyria

Back 22

EPP

empty pee pee

no porphyrins in urine

Front 23

Ration of urinary uroporphyrins to coproporphyrins in porphyria cutanea tarda?

Back 23

URO: COPRO

5-8:1

Front 24

What do we find in both porphyria cutanea tarda and hepatoerythropoeitic porphyria?

Back 24

fecal isocoproporphyrin

Front 25

In which porphyria is the urine devoid of porphyrins?

Back 25

erythropoietic protoporphyria

Front 26

Deficiency of protoporphyrinogen oxidase results in?

Back 26

variegate porphyria

Front 27

Deficiency of uroporphyrinogen III synthase results in?

Back 27

Congenital erythropoeitic porphyria

Front 28

Deficiency of uroporphyrinogen decarboxylase results in?

Back 28

porphyria cutanea tarda, hepatoerythropoetic porphyria

Front 29

Coral red fluorescence seen in erythrasma is attributed to:

uroporphyrin III

porphobilinogen

delta aminolevulinic acid

coproporphyrin III

protoporphyrin IX

Back 29

coproporphyrin III

Front 30

The porphyrin produced by p acnes is:

Back 30

coproporphyrin III

Front 31

Which of the following statements is false:

1. fecal coproporphyria is increased in variegate porphyria

2. hepatoerythropoietic porphyria is the homozygous form of PCT

3. acute intermittent porphyria has no skin findings

4. coproporphyrinogen is elevated more than uroporphyrinogen in 24 hour urine samples in PCT

5. in erythropoietic protoporphyria, protoporphyrin IX absorbs in the soret band

Back 31

WHAT?

Front 32

Which is caused by an enzymatic defect that occurs in the mitochondria?

PCT

AIP

CEP

EPP

HEP

Back 32

EPP

Front 33

What porphyria is a/w variable degrees of hematological involvement from mild hemolytic anemia to hydrops fetalis?

Back 33

CEP

Front 34

What porphyria may resemble CEP clinically, but does not have the hematologic abnormalities?

Back 34

HEP

Front 35

What three porphyrins absorb light intensely in the Soret band?

Back 35

uroporphyrin, coproporphyrin and protoporphyrin

Front 36

Where is the enzyme defect in acquired PCT?

Back 36

liver only

uroporphyrinogen decarboxylase

Front 37

Where is the enzyme defect in familial PCT?

Back 37

all tissues

uroporphyrinogen decarboxylase

Front 38

Histologically, which entity may resemble EPP?

Back 38

lipoid proteinosis

Front 39

What is the rate limiting step in heme synthesis?

Back 39

ALA synthase

Front 40

What porphyrin in the feces is specific to PCT and HEP?

Back 40

isocoproporphyrin

Front 41

What gene defect, outside of the heme pathway, is a/w PCT?

Back 41

HFE gene in hemochromatosis

Front 42

What cancer is PCT a risk for?

Back 42

hepatocellular carcinoma

Front 43

What is the only oxidized porphyrin?

Back 43

protoporphyrin IX

Front 44

What skin finding is seen in patients with EPP and no recent attacks?

Back 44

scarring on nose and lips

Front 45

What is the greatest concern in patients with EPP?

Back 45

development of cholestasis from rapid accumulation of protoporphyrin in the liver and biliary system. LFTs may be normal until late in the course where liver damage or death may occur.

Front 46

What are the DIF findings in PCT?

Back 46

IgG/C3/fibrinogen at the DEJ and around blood vessels in the papillary dermis

Front 47

What urine prophyrins are a/w PCT?

Back 47

uroporphyrin I >III, hepta-carboxylated porphyrins III > I

Front 48

What three porphyrias are autosomal recessive?

Back 48

ALA D deficiency, CEP, HEP