- 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 . In Europe, an incidence of approximately 0.15 new cases per year has been estimated . 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].To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
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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