Promoting the screening of Fabry disease, a rare genetic disorder, is the main objective of a new epidemiological, observational and multicentre study, coordinated by Elisabete Martins, a professor and researcher at the Faculty of Medicine of the University of Porto (FMUP) and CINTESIS.

The F-Check project aims to promote the diagnosis of Fabry disease in patients with different cardiomyopathies and with different types of manifestations, by performing enzymatic and/or genetic tests and family screening.

This project also aims to estimate the prevalence of this rare disease in the Portuguese population and to disseminate it among doctors who monitor patients with cardiomyopathies.

“Considering the severity of the manifestations of Fabry disease and the existence of specific treatments for it, the early and timely clinical diagnosis of these patients is fundamental for the effectiveness of therapy,” explains Elisabete Martins. If not treated early, the disease may progress to irreversible lesions in different organs.

Fabry disease is a rare disease caused by genetic mutations. Due to the deficiency of an enzyme (α-Gal A), certain substances accumulate in the body’s cells, which can affect the correct functioning of various organs and systems, leading to “a cascade of secondary events” such as hypertrophy, fibrosis and inflammation.

The heart is one of the organs that can be affected, although the clinical manifestations of the disease may vary from individual to individual. In addition to left ventricular hypertrophy, arrhythmias and ischaemic events may occur.

As the signs and symptoms of the disease are relatively non-specific (pain, tiredness, skin lesions, hearing problems, diarrhoea, for example), experts argue that the best strategy to increase diagnosis is to carry out systematic screening of all patients with suspicious clinical manifestations compatible with Fabry disease.

The current project proposes to perform such screening in men and women with heart disease diagnosed after 30 years of age and in whom Fabry disease has not been previously ruled out with specific analyses or genetic testing.

The screening will start with the recruitment of participants in ten or so hospitals, and this phase should continue until the end of 2024.