What is Fabry Disease? Screening promoted in the Portuguese population | genetics

Screening for Fabry disease, a rare disease that if not treated in time can progress to irreversible damage to different organs, will be promoted by the Faculty of Medicine of the University of Porto (FMUP).

On the World Day for Rare Diseases, marked on the last day of February, the FMUP reveals that it is preparing a “new epidemiological, observational and multicentric study”, whose objective is to screen Fabry disease in the Portuguese population.

“Timely diagnosis is fundamental”, considers Elisabete Martins, study coordinator and professor at FMUP, mentioned in a press release.

Fabry disease is a rare disease resulting from genetic mutations, which cause the accumulation of fat in cells.

Elisabete Martins, who is also a researcher at the Research Center for Health Technologies and Services (Cintesis), coordinates the F-Check project. This project intends to promote the diagnosis of Fabry disease in patients with different cardiomyopathies and with different types of manifestations, through the performance of an enzymatic and/or genetic test and screening familiar.

Another objective of this project is to estimate the prevalence of this rare disease in the Portuguese population and to disseminate it among doctors who monitor patients with cardiomyopathies.

Screening will be carried out in men and women with heart disease diagnosed after the age of 30 and in whom Fabry disease has not previously been ruled out through specific analyzes or genetic testing.

The screening will start with the recruitment of participants in a dozen hospitals, a phase that should last until the end of 2024. The project involves other researchers not only from the FMUP like the rest of the country.

Underlining that if this disease is not treated in time it can progress to irreversible damage in different organs, the researcher stresses that it is “fundamental” to make an early and timely clinical diagnosis of these patients in order to contribute to the effectiveness of the therapy.

In Fabry disease, the heart is one of the most affected

Fabry disease manifests itself due to the deficiency of an enzyme (alpha-galactosidase A​), resulting in the accumulation of certain substances in the body’s cells. this enzyme it plays an important role in lipid metabolism (of fats), being necessary to degrade some of these products. Mutations in a gene (the GLA) may lead to a decrease or even absence of alpha-galactosidase A activity, thus resulting in the accumulation of fat in tissues and organs. This can affect the functioning of various organs and systems, causing 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 vary from individual to individual. In addition to left ventricular hypertrophy, arrhythmias and ischemic events may occur.

Signs of the disease include pain, tiredness, skin lesions, hearing problems, diarrhea. Although there are therapeutic options for Fabry disease, there is no curative treatment.

However, these signs are “relatively nonspecific”, which is why “experts argue that the best strategy to increase the diagnosis is to carry out a systematic screening of all patients with suspicious clinical manifestations compatible with Fabry disease”, alert of FMUP.

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