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Hereditary coproporphyria

Ashwani K Singal, MD, MS
Karl E Anderson, MD, FACP
Section Editor
Stanley L Schrier, MD
Deputy Editor
Jennifer S Tirnauer, MD


Hereditary coproporphyria (HCP; OMIM #121300) is one of the acute hepatic porphyrias resulting in neurovisceral symptoms that are identical to those seen in acute intermittent porphyria (AIP) and variegate porphyria (VP) [1-3]. In contrast to AIP, blistering skin lesions, similar to those seen in VP and porphyria cutanea tarda (PCT), may also occur.

HCP is due to deficient activity of the mitochondrial enzyme coproporphyrinogen oxidase (CPOX), the sixth enzyme in the heme biosynthetic pathway (table 1 and figure 1) [4,5]. Affected individuals are heterozygous for mutations of the gene for that enzyme.

The clinical features, diagnosis, and treatment of HCP will be discussed here. A general review of the porphyrias is presented separately. (See "Porphyrias: An overview".)

The other acute porphyrias are also discussed separately. (See "Pathogenesis, clinical manifestations, and diagnosis of acute intermittent porphyria" and "Variegate porphyria" and "ALA dehydratase porphyria".)


HCP is the third most common acute porphyria after AIP and VP. The disease is mostly reported from Europe and North America, but is expected to occur in all ethnic groups. A prevalence of two per million was estimated in Denmark [6]. In Europe, an incidence of approximately 0.15 new cases per year has been estimated [7]. HCP typically manifests after puberty in heterozygotes, and more commonly in women. Homozygous cases of HCP and a genetic variant form of the homozygous disease termed harderoporphyria have been described, with disease onset in childhood [8-11].

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Literature review current through: Nov 2017. | This topic last updated: Jan 16, 2017.
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