Portugal: Pezinhos Disease Prevalence – Global Highest
Portugal Launches Awareness Campaign for Rare Genetic Disease, Paramyloidosis
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Understanding Paramyloidosis in Portugal
Portugal has the highest prevalence of paramyloidosis globally, wiht approximately 2,000 individuals identified as carriers of the genetic mutation causing the condition, often referred to as “Doença dos Pezinhos” (Disease of the Little Feet). This information is based on a study released on Thursday, october 17, 2024, characterizing the disease’s distribution within the country.
the study, known as the Cardinal study, also reveals that roughly 35% of these 2,000 carriers currently remain asymptomatic.
Commemorating Professor Corino Andrade and Launching ”Pé Ante Pé”
The findings were presented at the meeting “Paramyloidosis: a journey to the past, present and future,” held to commemorate the 20th anniversary of the death of Professor Doctor Corino Andrade, a prominent neurologist. The meeting served as the launchpad for the “Pé Ante Pé” (Foot by Foot) campaign.
According to a statement,the “Pé Ante Pé” campaign aims to “increase awareness about the disease,promote early detection,and reinforce the role of families in monitoring the pathology.”
Campaign Partners and Timeline
The campaign is a collaborative effort between APP (Associação Portuguesa de Paramiloidose), the Portuguese Society of cardiology, and the Portuguese Society for the Study of Neuromuscular Diseases. It receives support from AstraZeneca and is scheduled to run over the coming months.
carlos Figueiras emphasized that Portugal’s situation “allows us not only to understand the scale of the challenge, but also to reinforce the importance of early diagnosis and monitoring.”