Publication brief: Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy

Italy is home to one of the largest national porphyria research and clinical care groups (Gruppo Italiano Porfiria, GrIP), which has this month pre-published the first ever Italian-wide epidemiological study on the rare metabolic disorder erythropoietic protoporphyria (EPP). Analysing data from six expert centres over 20 years (up to 2017), the group identified 179 individual patients living with EPP (including X-linked EPP), and concluded a country-wide disease prevalence of 3.15 patients per million inhabitants. The overall disease incidence was reported as 0.13 new patients per million persons per year.

Consistent with other literature reports, Italian patients experienced an extended delay in diagnosis (time from first symptom onset to diagnosis) until adulthood. The average age of diagnosis was, however, much higher than that reported in other countries: 28 years compared to 12 in the UK, 13 in the USA and 22 in Sweden.

In their analysis of genetic mutations, the authors also reported 15 novel mutations in the ferrochelatase (FECH) gene, amongst 42 reported across the patient cohort.

The paper is still “in press” (published online ahead of print), but the abstract and full access is available here.


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