Porphyrias Flashcards

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1
Q

What is meant by cutaneous photosensitivity?

A

Abnormal skin reaction to UV, and sometimes visible, light

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2
Q

What is porphyria?

A

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

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3
Q

Name the 3 most common porphyrias

A

Porphoryia cutanea tarda
Erythropoietic protoporphyria
Variegate porphyria

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4
Q

How does porphyria cutanea tarda arise?

A

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

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5
Q

List symptoms of porphyria cutanea tarda

A

Blistering
Skin fragility
Hyperpigmentation
Hypertrichosis

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6
Q

List 4 causes of porphyria cutanea tarda

A

Alcohol
Viral hepatitis
High oestrogen
Haemachromatosis

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7
Q

How does erythropoietic protoporphyria arise?

A

Reduced activity of ferrochelatase causes build up of protoporphyrins

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8
Q

List symptoms of erythropoietic protoporphyria

A

Swelling/burning
Itching
Pain

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9
Q

How does acute intermittent porphyria arise?

A

Reduced activity of PBG deaminase causes build up of uroporphyrins

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