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Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.
- Source :
-
European journal of dermatology : EJD [Eur J Dermatol] 2020 Oct 01; Vol. 30 (5), pp. 532-540. - Publication Year :
- 2020
-
Abstract
- Background: Erythropoietic protoporphyria (EPP) is a rare inherited disease associated with heme metabolism, characterized by severe life-long photosensitivity and liver involvement.<br />Objective: To provide epidemiological data of EPP in Italy.<br />Materials & Methods: Prospective/retrospective data of EPP patients were collected by an Italian network of porphyria specialist centres (Gruppo Italiano Porfiria, GrIP) over a 20-year period (1996-2017).<br />Results: In total, 179 patients (79 females) with a clinical and biochemical diagnosis of EPP were assessed, revealing a prevalence of 3.15 cases per million persons and an incidence of 0.13 cases per million persons/year. Incidence significantly increased after 2009 (due to the availability of alfa-melanotide, which effectively limits skin photosensitivity). Mean age at diagnosis was 28 years, with only 22 patients (12.2%) diagnosed ≤10 years old. Gene mutations were assessed in 173 (96.6%) patients; most (164; 91.3%) were FECH mutations on one allele in association with the hypomorphic variant, c.315-48C, on the other (classic EPP), and nine (5.2%) were ALAS2 mutations (X-linked EPP). Only one case of autosomal recessive EPP was observed. Of the 42 different FECH mutations, 15 are novel, three mutations collectively accounted for 45.9% (75/164) of the mutations (c.215dupT [27.2%], c.901&#95;902delTG [11.5%] and c.67 + 5G > A [7.2%]), and frameshift mutations were prevalent (33.3%). A form of light protection was used by 109/179 (60.8%) patients, and 100 (56%) had at least one α-melanotide implant. Three cases of severe acute liver involvement, requiring OLT, were observed.<br />Conclusion: These data define, for the first time, the clinical and molecular epidemiology of EPP in Italy.
- Subjects :
- 5-Aminolevulinate Synthetase genetics
Adult
Cross-Sectional Studies
Female
Ferrochelatase genetics
Genes, Recessive
Genes, X-Linked
Humans
Incidence
Italy
Male
Molecular Epidemiology
Mutation
Prevalence
Prospective Studies
Retrospective Studies
Protoporphyria, Erythropoietic epidemiology
Protoporphyria, Erythropoietic genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1952-4013
- Volume :
- 30
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- European journal of dermatology : EJD
- Publication Type :
- Academic Journal
- Accession number :
- 33021473
- Full Text :
- https://doi.org/10.1684/ejd.2020.3880