The study aims to profile the distribution of paramyloidosis, a rare and progressive genetic condition that leads to the deposition of abnormal proteins in vital organs such as nerves, heart, and kidneys.
It is estimated that over two thousand people in Portugal have the genetic mutation, with 35% of them not yet showing symptoms.
The data were revealed as part of the national “Pé Ante Pé” campaign, intended to “raise awareness and promote early detection” of the disease.
The campaign is organized by the Associação Portuguesa de Paramiloidose (APP), Sociedade Portuguesa de Cardiologia (SPC), and Sociedade Portuguesa de Estudo das Doenças Neuromusculares (SPEDNM), with support from a pharmaceutical company.
It also seeks to emphasize the role of families in managing the pathology, particularly in the most affected regions.
Although most cases are concentrated in the North, the study indicates that the disease is becoming more prevalent in districts such as Aveiro.
“It is crucial that regions like Aveiro enhance diagnosis and family monitoring because each identified case is an opportunity to act sooner,” warns Carlos Figueiras, president of the Associação Portuguesa de Paramiloidose.
Initial symptoms can appear between 25 and 40 years of age and include tingling, muscle weakness, and loss of sensitivity in the hands and feet. Over time, digestive issues, dizziness, and weight loss may occur.
“As it is a hereditary disease, there is a 50% chance of transmission to children when one parent has the mutation,” the campaign warns, concluding that “evaluating family risk and monitoring gene carriers are crucial steps for safeguarding the health of future generations.”
