Portugal has the highest prevalence of paramyloidosis in the world, with 2,000 carriers of the genetic mutation responsible for what is known here as “the disease of the feet”.
A new study, published today characterising the distribution of the disease has been presented at the event in Vila do Conde “Paramyloidosis: a journey into the past, present and future”, which marks the 20th anniversary of the death of Professor Corino Andrade, the neurologist who first identified this disease.
According to a statement from the Portuguese Paramyloidosis Association (APP), which organised the event in partnership with pharmaceutical company AstraZeneca, the CARDINAL study also indicates that around 35% of the total 2,000 carriers of the genetic mutation do not yet show symptoms.
In addition to CARDINAL, the LANTERN study – which assesses the needs and quality of life of patients – is also being presented today allowing the results of both to give, “for the first time, a clear view of the reality of paramyloidosis in Portugal,” according to APP.
The region of Porto accounts for a quarter of all cases (almost 600 people), says the CARDINAL study.
Porto is followed by Braga (nearly 500 cases) and then Aveiro (200).
“This data confirms what we have long felt on the ground: the burden 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,” says APP’s president Carlos Figueiras, quoted in the statement.
The LANTERN study indicates that 38.4% of patients are retired due to disability, noting that 61.2% do not receive “sufficient” support (formal and/or informal) for their day-to-day needs.
Paramyloidosis is hereditary and “if one of the parents has the mutation in the TTR gene, there is a 50% chance of passing it on to each child,” with LANTERN showing that the disease influenced the decision of 49.6% of respondents over whether to have children.
Tingling, pain and muscle weakness, as well as loss of sensation 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 more about 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,” says Carlos Figueiras.
In this regard, the ‘Pé Ante Pé’ campaign will be launched at today’s meeting, aiming to “raise awareness about the disease, promote early detection and reinforce the role of families in monitoring the condition.”
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 coming months.
To read more about the symptoms and treatments for this disease click here.
