Synonym(s)
Hereditary Protocoproporphyria; MIM 176200; Mixed hepatic porphyria; mixed porphyria; Mixed Porphyria; Porphyria hepatica mixta; Porphyria hepatic mixed; Porphyria mixed; Porphyria South African genetic; Protocoproporphyria hereditary; Proto-Proporphyria; South African genetic porphyria; Variegate porphyria
HistoryThis section has been translated automatically.
van der Bergh and Grotepass, 1937; Barnes, 1945
DefinitionThis section has been translated automatically.
Hereditary porphyria with symptoms of porphyria acuta intermittens and porphyria cutanea tarda. Often latent occurrence, manifestation only with additional exogenous factors.
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Occurrence/EpidemiologyThis section has been translated automatically.
Prevalence (Europe): 1-3/100 000 inhabitants/year. Highly prevalent in South Africa.
EtiopathogenesisThis section has been translated automatically.
- Autosomal-dominantly inherited enzyme defects of protoporphyrinogen oxidase (PPOX; key enzyme of heme biosynthesis; gene locus: 1q22) which lead to a loss of activity of PPOX and cause secondary accumulation of protoporphyrin and coproporphyrin. During acute episodes, porphobilinogen and aminolevulinic acid are also increased.
- Associations with defects of the haemtochromatosis gene (gene locus: 6p21.3) are also described.
ManifestationThis section has been translated automatically.
Middle age. Triggering factors: drugs, especially barbiturates, sulfonamides, sulfonylurea derivatives, estrogens, oral contraceptives.
Clinical featuresThis section has been translated automatically.
- Skin lesions: In light-exposed areas such as the porphyria cutanea tarda.
- Acute attacks: Abdominal crises, disorders of the nervous system and psychological changes of the porphyria acuta intermittens accordingly.
LaboratoryThis section has been translated automatically.
- Urine: dark. Darkening when standing, red fluorescence, delta-aminolevulinic acid is strongly increased, porphobilinogen is strongly increased. Porphyrins, especially coproporphyrins, are elevated.
- Stools: Coproporphyrin III is elevated during acute attacks.
- Remission phase: Coproporphyrin III and especially protoporphyrin III are elevated.
General therapyThis section has been translated automatically.
Avoid triggering medication. Avoid sun exposure and mechanical skin irritation.
External therapyThis section has been translated automatically.
Textile and chemical/physical light protection (see also light protection agents)! Therapy of the acute symptoms: S.u. porphyry syndrome, acute. Genetic counselling.
LiteratureThis section has been translated automatically.
- Barnes HD (1945) A note on porphyrinuria with a résumé of eleven South African cases. Clinical Proceedings 4: 269-275
- Frank J et al (1998) The genetic basis of "Scarsdale Gourmet Diet" variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene. Arch Dermatol Res 290: 441-445
- Frank J et al (2001) A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria. J Invest Dermatol 116: 821-823
- Meinhof W et al (1980) Porphyria variegata. Dermatologist 31: 595-601
- Norris PG (1990) Homozygous variegate porphyria: a case report. Br J Dermatol 122: 252-257
- Palmer RA et al (2001) Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene. Br J Dermatol 144: 866-869
- van der Bergh AAH, Grotepass W (1937) A remarkable case of porphyry. Wien Klin Weekly news 50: 830-831
- Weinlich G et al (2001) Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity. Acta Derm Venereol 81: 356-359
- Wiman A et al (2003) Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria. Clin Genet 64: 122-130
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Incoming links (12)
Mixed porphyria; Pellagra; Porphobilinogen; Porphyria hepatic; Porphyria hepatica mixta; Porphyria hepatic mixed; Porphyria mixed; Porphyria mixed; Porphyria south african genetic; Protocoproporphyria, hereditary; ... Show allOutgoing links (5)
Acute intermittent porphyria; Light stabilizers; Porphyria cutanea tarda; Porphyria (overview); Porphyry syndrome acute;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer