Roma. "Today in Italy, a patient with Cardiac Transthyretin Amyloidosis (ATTR) may receive a very different diagnosis and treatment depending on the region they live in. Yet, this rare disease, often underestimated and diagnosed too late, requires a rapid, personalized, and multidisciplinary treatment pathway."
To address this challenge, the position paper entitled "The Importance of Personalized Transthyretin Amyloidosis Treatment Plans (PDTAs) for the Management of Patients with Transthyretin Amyloidosis" was presented today in the Sala Caduti di Nassirya of Palazzo Madama, during a press conference promoted by Senator Elena Murelli, group leader on the Senate Social Affairs Committee and promoter of the inter-parliamentary group on cardio, cerebro, and vascular diseases.
The document was produced by Bistoncini Partners, with the unconditional contribution of Pfizer, and the patronage of Anmco (National Association of Hospital Cardiologists), Fism (Federation of Italian Medical Scientific Societies), SIGG (Italian Society of Gerontology and Geriatrics), and Sia (Italian Society for Amyloidosis).
Cardiac transthyretin amyloidosis is a rare, progressive, and life-threatening disease caused by unstable transthyretin proteins that misfold and aggregate into amyloid fibrils, which can accumulate in the heart and other parts of the body.
The accumulation of transthyretin amyloid in the heart causes the heart muscle to stiffen over time, eventually leading to heart failure. According to experts, transthyretin amyloidosis—in its senile (ATTRwt) or hereditary (ATTRv) forms—is "much more common than previously thought, but it is often confused with common heart conditions."
Difficulty in diagnosis, heterogeneous care pathways, and uneven access to treatments represent "significant obstacles." The challenge of properly managing patients with Transthyretin Amyloidosis "reminds us of how crucial it is to maintain high levels of awareness of rare and little-known diseases," Senator Murelli emphasized. "This position paper aims to present operational recommendations, diagnostic strategies (invasive and non-invasive), therapeutic indications, functionality, and regional best practices already implemented in various Italian settings. This will foster collaboration between institutions, clinicians, and associations through concrete actions, to ensure patients receive consistent and effective diagnostic and treatment pathways throughout the country."
The document, in particular, brings together the work of clinicians, institutions, and regional networks to make Diagnostic Therapeutic Care Pathways (PDTA) more effective: "fundamental" tools, the experts emphasized, to ensure patients "equitable access to care and uniformity of treatment throughout the country."
The national Plan for Cardiac Amyloidosis published by the Italian Cardiac Amyloidosis Network (RIAC) in 2024 has already paved the way, but its concrete implementation at the regional level "remains patchy." This is also confirmed by Dr. Federico Nardi, president-elect of ANMCO, director of the Structural Medical Department. ASL AL and director of the Cardiology Department at Casale Hospital
As cardiologists, we see every day how late diagnosis of this disease can compromise patients' quality of life. Our goal is to network, share expertise, and disseminate best clinical practices so that care is timely and equitable everywhere."
In some Italian regions, however, advanced organizational models have been implemented that have improved early diagnosis and patient treatment. "Transthyretin amyloidosis is still too often underdiagnosed. With this document, we aim to raise awareness among the scientific community and healthcare decision-makers about the importance of protocols with a solid scientific basis, from early diagnosis to follow-up, to provide concrete answers to patients," emphasized Professor Giovanni Palladini, of the Department of Molecular Medicine at the University of Pavia, Amyloidosis and Highly Complex Diseases Center at the Fondazione IRCCS Policlinico San Matteo in Pavia, and a member of the Italian Amyloidosis Society. He confirmed that "profound regional inequalities persist, which the position paper aims to overcome through constructive discussion and the sharing of best practices."
Professor Giuseppe Limongelli, of the European Reference Network (ERN GUARD-Heart), Genetic and Rare Cardiovascular Diseases Unit at the University of Campania Luigi Vanvitelli in Naples, also believes that European reference networks are an "essential tool for addressing complex and rare diseases like transthyretin amyloidosis. Connecting centers of excellence and promoting shared training means ensuring all patients have access to the best care, regardless of where they live."
Transthyretin amyloidosis, they emphasized during the press conference, is a "complex and multisystemic disease that requires the involvement of cardiologists, neurologists, hematologists, geneticists, internists, and other specialists." Early diagnosis and a structured treatment plan can "radically change" the prognosis of these patients, reducing comorbidities and mortality.
"Behind every diagnosis are people and families facing fears and uncertainties," commented Professor Martina Smorti, associate professor of Developmental and Educational Psychology at the University of Pisa. "This is why it is essential to integrate psychological support into treatment plans to help patients live with a complex disease like Amyloidosis."
Finally, the position paper on Cardiac Transthyretin (ATTR) Amyloidosis fits perfectly among the priorities of the National Rare Disease Plan 2023-2026, which aims to strengthen the Rare Disease Prevention and Control (PDTA) and care networks to improve the lives of patients and reduce care gaps between regions.
"It is essential and a priority to build a more equitable healthcare system that is attentive to the needs of those living with rare diseases and their families," concluded the Honorable Ilenia Malavasi, member of the Chamber of Deputies' Social Affairs Committee and member of the Parliamentary Intergroup on Cardio, Cerebral, and Vascular Diseases. "Our commitment, as Parliament, is to ensure the availability of resources, equal access and opportunities throughout the country, and adequate tools to implement the proposals into concrete actions, for the benefit of all."
Article published by A. Carlino on July 10, 2025, at 13:34 PM
Longtime contributor to Cronache della Campania
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Comments (1)
I've read about cardiac amyloidosis, and it seems very complicated. It's important to have treatment pathways for everyone. Each region must do its part, but it's not easy to understand how the Italian healthcare system actually works.