- Ashwani K Singal, MD, MS
Ashwani K Singal, MD, MS
- Associate Professor, Division of Gastroenterology and Hepatology
- University of Alabama at Birmingham
- Karl E Anderson, MD, FACP
Karl E Anderson, MD, FACP
- The University of Texas Medical Branch
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".)
PREVALENCE AND EPIDEMIOLOGY
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 . HCP typically manifests after puberty in heterozygotes, and more commonly in women. Homozygous cases of HCP and a genetic variant form termed harderoporphyria have been described, with disease onset in childhood [7-10].
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- Akagi R, Inoue R, Muranaka S, et al. Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient. Br J Haematol 2006; 132:237.
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- Hasanoglu A, Balwani M, Kasapkara CS, et al. Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R. J Inherit Metab Dis 2011; 34:225.
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- PREVALENCE AND EPIDEMIOLOGY
- CLINICAL FEATURES
- Neurovisceral manifestations
- Cutaneous manifestations
- Laboratory findings
- - Hematologic, electrolyte, and imaging abnormalities
- - Porphyrin precursors
- Precipitating factors
- ETIOLOGY AND PATHOGENESIS
- Enzymatic defect in HCP
- Porphyrin accumulation
- CPOX mutations
- - Homozygous HCP and harderoporphyria
- DIAGNOSTIC TESTING
- Initial diagnostic testing for HCP
- Distinguishing among acute porphyrias
- Genetic testing
- DIFFERENTIAL DIAGNOSIS
- Acute attacks
- Blistering skin lesions
- Long term management
- Genetic counseling
- SUMMARY AND RECOMMENDATIONS