Porphyria

Question 1

What is porphyria

Answer 1

inborn errors of metabolism caused by abnormalities in enzymes in the haem pathway

Question 2

reduced activity of uropophyrinogen decarboxylase causes build of of urophophyrins

Answer 2

porphyrias cutanae tarda

Question 3

what is PCT caused by

Answer 3

hep C, alcohol, iron overload, HIV, high oestrogen and haemachromatosis

Question 4

What are the features of PCT

Answer 4

bull eruption in the sun, skin fragility, hyper pigmentation and hypertrichosis

Question 5

reduced activity of ferrochelatase causes build up of protoporphyrins

Answer 5

erythropoietic protoporphyria

Question 6

EP clinical features

Answer 6

swelling/burning pain, itch, increased chance of gallstones

young kids itch/tingle in the sun

Question 7

reduced activity of PBG deaminase causes build up of uroporphyrins

Answer 7

acute intermittent porphyria

Question 8

acute intermittent causes

Answer 8

alcohol, contraception

Question 9

acute intermittent clinical features

Answer 9

early adult life presentation, neurological and visceral symptoms