‘Doença dos Pezinhos’: Portugal Launches New Genetic Screening Drive
Portugal still shoulders the world’s heaviest burden of hereditary transthyretin amyloidosis, better known locally as Doença dos Pezinhos. Fresh data released this month confirm that roughly 1 in every 5 global cases lives here, most of them concentrated above the Douro. While the numbers are sobering, they also reveal quieter progress: earlier detection, a widening therapeutic arsenal and a new push to understand how the illness erodes day-to-day life.
Why the North keeps topping the charts
In a country of little more than 10 M inhabitants, researchers have identified about 2 000 carriers of the mutated TTR gene, and 1 865 people already symptomatic. The latest Cardinal study, which tracked patient files from 2011-2023, shows that Porto, Braga and Aveiro host nearly 60 % of all recorded cases. Genetic historians often cite the region’s centuries-old fishing communities—where families stayed put and inter-married—as the reason. Modern mobility has spread the mutation nationwide, yet roughly one-third of carriers remain symptom-free, making continued surveillance crucial.
Life under the shadow of Doença dos Pezinhos
For many families the diagnosis lands early, often after watching a parent lose feeling in their feet and hands. The ongoing Lantern survey, run by ENSP-NOVA with patient groups and AstraZeneca, paints a stark portrait: 38.4 % of respondents retired on disability and over 61 % say they lack adequate daily support. Beyond numb toes and cardiac issues, interviewees spoke of missed promotions, postponed weddings and the agony of deciding whether to have children when each pregnancy carries a 50 % transmission risk. Half of those surveyed admitted the mutation influenced their family planning.
New diagnostic frontiers and the SNS response
Portugal’s Serviço Nacional de Saúde has long offered genetic testing to adults after counselling, but 2025 marks a pivot from reactive to preventive care. Two reference centres—one in Porto, another in Lisbon—now flag first-degree relatives for annual checks even before symptoms appear. Policymakers are debating whether the national newborn heel-prick programme should expand to include the TTR V30M mutation, a move proponents say would let doctors treat before nerve damage becomes irreversible. A wider Rare-Disease Action Plan (2025-2030), unveiled in February, promises dedicated registries and faster pathways for orphan drugs, bringing paramyloidosis into the mainstream of public-health planning.
Therapies: from tafamidis to gene editing
A decade ago, liver transplantation was virtually the only hope. Today Portuguese clinicians can prescribe tafamidis for early neuropathic stages, patisiran or its quarterly sibling vutrisiran for more advanced cases, and they are preparing for a wave of CRISPR-based trials that aim to silence the faulty gene altogether. Although no CRISPR study is yet recruiting locally, hospital investigators are aligning protocols so patients can enrol abroad and still be monitored at home. The transplant option remains, but surgeons now reserve it for those who either fail drug therapy or present with aggressive onset before their mid-30s.
Counting the cost and shaping policy
Treating paramyloidosis is expensive—tafamidis alone lists at €14 000 a month—so Infarmed’s reimbursement decisions carry national weight. Economists say direct drug costs may be offset by fewer years of disability; the average untreated patient dies 10-15 years after first symptoms, whereas new regimens can freeze progression for longer. Meanwhile, labour unions up North press for easier workplace accommodations and tax credits for carers, arguing that Portugal’s unique prevalence turns a rare disorder into a regional social-care issue. Expect the findings of Lantern—due next autumn—to feed directly into next year’s state budget negotiations.
The science is advancing, but for Portuguese families the metric that matters most remains brutally simple: how long before numbness steals a loved one’s stride? That countdown is starting to slow, yet the nation that helped clinicians around the globe first recognise the illness must now show it can also lead in keeping those footsteps steady.