Knowledge Check

Acute porphyrias refer to a group of 4 inherited metabolic diseases, each resulting from a deficiency in a different enzyme in the heme biosynthesis pathway.

Can you name them?

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Acute intermittent porphyria (AIP)
Hereditary coproporphyria (HCP)
Variegate porphyria (VP)
ALA-dehydratase deficient porphyria
(ADP)

Which of the following types of acute porphyria are inherited in an autosomal dominant manner?

Acute intermittent porphyria (AIP)

Hereditary coproporphyria (HCP)

Variegate porphyria (VP)

ALA-dehydratase deficient porphyria (ADP)

True or false: Many individuals who inherit AIP, HCP and VP never have clinical manifestations.

True

AIP, HCP and VP have low clinical penetrance, pointing to the importance of environmental factors and/or additional genetic alterations in modulating clinical phenotype.

False

Of the acute porphyrias, which may also present with skin lesions?

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Hereditary coproporphyria (HCP)
Variegate porphyria (VP)

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