Porphyrias Flashcards Preview

DermJaz > Porphyrias > Flashcards

Flashcards in Porphyrias Deck (12):
1

Basic biochemistry of pathway that if is a defect/defiency in is a porphyria = ___-> ___

glycine and succinyl-CoA ---> Haem

2

4 main groups of porphyrias

phototoxic skin porphyrias
blistering and skin fragility
acute attack (may have no skin involvement)
severe congenital porphyrias

3

an example of a phototoxic skin porphyria =

erythropoetic protoporphyria (EPP)

4

uroporphyrinogen decarboxylase (UROD) deficiency =

Porphyria cutanea tarda (PCT) type 1

5

2 typical features of porphyria presentation

blistering
skin fragility

6

Wood's lamp is to investigate

fungal and bacterial infections
pigment conditions eg. vitiligo, PCT, EPP, ECP

7

underlying causes of PCT can be

alcohol, viral hepatitis, oestrogens and haemochromatosis

8

ferrochelatase deficiency that means protoporphyrin IX isnt converted to ___ =

EPP (erythopoeitic porphyria)
haem

9

EPP usually presents in ___ with ___

childhood
acute photosensitivity of the skin (pruritis, erythem, swelling, pain)

10

PBG deaminase deficiency =
causes PBG not to be converted to ___

acute intermittent porphyria
hydroxymethylbilane

11

Investigations for porphyrias

Wood's Lamp
quantitive RBC porphyrins
fluorocytes
transaminases
[Hb]
red cell indices
biliary tract US

12

management of porphyrias

6mnthly LFTs and RBC porphyrins
visible light photprotection - sunscreens
phototherapy
avoid iron
antioxidants
prevent liver failure