Porphyrias

Question 1

what is meant by cutaneous sensitivity?

Answer 1

abnormal skin reaction to UV and sometimes visible light

Question 2

how does prophyria cutanea tarda arise?

Answer 2

reduced activity of uroporphyrinogen decarboxylase causes a build up of uroporphyrins that react with light

Question 3

how does acute intermittent porphyria arise?

Answer 3

reduced activity of PBG deaminase, resulting in a build up of uroporphyrins

Question 4

list symptoms of erythropoietic protophyria

Answer 4

swelling/burning
itch
pain

Question 5

list symptoms of porphyria cutanea tarda

Answer 5

blistering
skin fragility
hyperpigmentaiton
hypertrichosis

Question 6

list four possible causes of porphyria cutanea tards

Answer 6

alcohol
viral hepatitis
high oestrogen
haemochromatosis

Question 7

what is porphyria?

Answer 7

Hereditary disease where there is build up of porphyrins, caused by reduced enzyme activity in the haem pathway
These react with light to produce skin reactions

Question 8

how does erythropoietic protophyria arise?

Answer 8

reduced activity of the enzume ferrochelatase causes a build up of protoporphyrins

Question 9

name the 3 most common porphyrias

Answer 9

porphyria cutanae tarda
erythropoietic protophyria
acute intermittent porphyria

Question 10

which porphyria is associated with gall stones and vit D deficiency?

Answer 10

erythropoietic protophyria