4.3 Article

Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy

Journal

EUROPEAN JOURNAL OF DERMATOLOGY
Volume 30, Issue 5, Pages 532-540

Publisher

JOHN LIBBEY EUROTEXT LTD
DOI: 10.1684/ejd.2020.3880

Keywords

cutaneous porphyrias; erythropoietic protoporphyria; ferrochelatase; photodermatosis; protoporphyrin; X-Link EPP

Categories

Ask authors/readers for more resources

Background: Erythropoietic protoporphyria (EPP) is a rare inherited disease associated with heme metabolism, characterized by severe lifelong photosensitivity and liver involvement. Objective: To provide epidemiological data of EPP in Italy. 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). 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_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 alpha-melanotide implant. Three cases of severe acute liver involvement, requiring OLT, were observed. Conclusion: These data define, for the first time, the clinical and molecular epidemiology of EPP in Italy.

Authors

I am an author on this paper
Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.3
Not enough ratings

Secondary Ratings

Novelty
-
Significance
-
Scientific rigor
-
Rate this paper

Recommended

No Data Available
No Data Available