Portugal has the highest prevalence of paramyloidosis in the world, with 2000 carriers of the genetic mutation responsible for what is known as “Pezinhos Disease”indicates a study that will be released this Thursday, October 23rd.
The analysis, which characterizes the distribution of the disease in the country, is presented at the meeting “Paramyloidosis: a journey to the past, present and future”, which marks the 20th anniversary of the death of Professor Doctor Corino Andrade, the neurologist who identified it for the first time, taking place in Vila do Conde.
According to a statement from the Portuguese Paramyloidosis Association (APP), which organizes the meeting in partnership with the pharmaceutical company AstraZeneca, the Cardinal study also indicates that around 35% of the total 2000 carriers of the genetic mutation still do not show symptoms.
In addition to Cardinal, the Lantern study is presented at the meeting, which assesses the needs and quality of life of patients, allowing the results of both, “for the first time, a clear vision of the reality of paramyloidosis in Portugal”, considers the association.
According to Cardinal, the Porto district concentrates a quarter of all cases (almost 600 people), followed by Braga (close to 500 cases) and Aveiro (200).
“These data confirm what we have long felt on the ground: the weight of paramyloidosis in regions such as the north of the country, where many families have lived with the disease for several generations. However, the study also identifies the existence of scattered cases that need to be monitored”, highlighted Carlos Figueiras, president of APP, cited in the statement.
The Lantern study indicates 38.4% of patients are retired due to disability, highlighting that 61.2% do not receive support (formal and/or informal) “enough for their daily needs”.
Paramyloidosis is hereditary and, “if one of the parents has the mutation in the TTR gene, there is a 50% chance of transmitting it to each child”showing Lantern that the disease conditioned the decision of 49.6% of respondents to have children.
Tingling, pain and muscle weakness, as well as loss of sensitivity in the feet and hands are some of the initial symptoms of the disease which, as it progresses, can cause digestive difficulties, weight loss, dizziness and fainting, as well as low blood pressure, sexual dysfunction and urinary problems.
“The results of the CARDINAL and LANTERN Studies are an important milestone for all of us. Knowing better the reality of paramyloidosis in Portugal allows us not only to understand the scale of the challenge, but also to reinforce the importance of early diagnosis and monitoring”, said Carlos Figueiras.
By the way, the “Pé Ante Pé” campaign will be launched at the meeting, aiming to “increase awareness about the disease, promote early detection and reinforce the role of families in monitoring the pathology”, says the statement.
The campaign, promoted by APP, the Portuguese Society of Cardiology and the Portuguese Society for the Study of Neuromuscular Diseases, with the support of AstraZeneca, will run over the next few months.