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Pathological classification of porphyria

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Hepatic porphyrias:

  • acute intermittent porphyria (AIP)
  • variegate porphyria (VP)
  • hereditary coproporphyria (HCP)
  • aminolevulinic acid dehydratase porphyria (ADP), of which only six definite cases have been reported (1)
  • porphyria cutanea tarda (PCT)

Erythropoietic porphyrias:

  • erythropoietic porphyria (EP)
  • erythropoietic protoporphyria (EPP)
  • erythropoietic coproporphyria (ECP)

Hepatic / erythropoietic:

  • hepatoerythropoietic porphyria (HEP)

In hepatic porphyrias there is excess hepatic production of porphobilinogen. In erythropoietic porphyrias there is increased production of porphyrins in red blood cells due to enzyme deficiency.

Reference:

  • Edel Y, Mamet R. Porphyria: What Is It and Who Should Be Evaluated?. Rambam Maimonides Med J. 2018;9(2):e0013. Published 2018 Apr 19. doi:10.5041/RMMJ.10333

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