Porphyria is a kind of metabolic disease caused by the abnormal increase of the concentration of porphyrin or its precursors [such as delta-aminolevulinic acid (delta-ALA) and porphobilinogen (PBG)] due to the lack of enzyme activity in the heme biosynthesis pathway, which accumulates in tissues and causes cell damage. Porphyria is a rare disease, and the incidence of different types of porphyria varies. In adults, porphyria cutanea tarda (PCT), acute intermittent porphyria (AIP) and erythropoietic protoporphyria (EPP) are the most common. Symptomatic PCT prevalence was 40 per million (US)[1]。 The prevalence rate of AIP in Europe is about 5.4/million, the annual incidence rate of symptomatic AIP is about 0.13/million, and the incidence rate of symptomatic AIP, porphyria variante (VP), and hereditary faecal porphyria (HCP) is 1.00:0.62:0.15[2]。 EPP prevalence ranged from 5.0/million (UK) to 13.3/million (Netherlands)[3]。 There is no epidemiological data in China. In order to standardize the diagnosis and treatment of porphyria in China, experts from the Red Blood Cell Disease (Anemia) Group of Hematology Branch of Chinese Medical Association discussed and formulated this consensus.
