The analysis detailing the distribution of the disease in the country is being presented at the meeting ‘Paramiloidose: uma viagem ao passado, presente e futuro’, marking the 20th anniversary of the passing of Prof. Dr. Corino Andrade, the neurologist who first identified the condition. The event is taking place in Vila do Conde.
The study, as organized by the Associação Portuguesa de Paramiloidose (APP) in partnership with pharmaceutical company AstraZeneca, highlights that about 35% of the 2000 carriers of the genetic mutation present no symptoms, according to the Cardinal study.
Alongside Cardinal, the Lantern study is also featured, evaluating patients’ needs and quality of life. Together, these results provide, “for the first time, a clear view of the reality of paramiloidose in Portugal,” according to the association.
Findings reveal that the Porto district accounts for a quarter of all cases (nearly 600 individuals), followed by Braga (around 500) and Aveiro (200).
“These findings confirm what we have long observed on the ground: the impact of paramiloidose in regions like northern Portugal, where many families have lived with the disease for generations. Nonetheless, the study also identifies scattered cases that require monitoring,” stated Carlos Figueiras, president of APP.
The Lantern study indicates that 38.4% of patients are retired due to disability, with 61.2% not receiving sufficient support (formal or informal) for daily needs.
Paramiloidose, a hereditary condition, reveals that if one parent has the TTR gene mutation, there is a 50% chance of passing it to each child. The Lantern study shows that the disease influenced 49.6% of respondents in their decision-making about having children.
Initial symptoms include tingling, pain, and muscle weakness, alongside loss of sensation in feet and hands. As it progresses, it may lead to digestive issues, weight loss, dizziness, fainting, low blood pressure, sexual dysfunction, and urinary problems.
“The results of the CARDINAL and LANTERN Studies are a significant milestone for all of us. Understanding the reality of paramiloidose in Portugal not only helps us gauge the scale of the challenge but also underscores the importance of early diagnosis and monitoring,” added Carlos Figueiras.
During the meeting, the ‘Pé Ante Pé’ campaign will be launched, aiming to “raise awareness about the disease, promote early detection, and enhance the role of families in managing the condition,” the statement notes.
This campaign, promoted by the APP, the Portuguese Society of Cardiology, and the Portuguese Society for the Study of Neuromuscular Diseases, with support from AstraZeneca, will unfold over the coming months.
