The heart remembers, retains the emotions and challenges of a life but can also accumulate harmful substances, substances such as amyloid. And if from time to time you experience breathlessness, dizziness or lose a heartbeat, you need to know how to listen because your heart is telling us that something is wrong. Then it’s time to record the alarm bells, monitor them, contact your family doctor and find out about a disease called cardiac amyloidosis. This is the concept, which follows the thread of our life, of the campaign “The heart knows – Cardiac AMIloidosis: Listen, Monitor, Inform yourself”, promoted by Pfizer with the aegis of the Italian Society of Cardiology (Sic) and in collaboration with Italian Foundation for the Heart, FAMY Onlus and Conacuore ODV.
The initiative – reports a note – was created to inform and sensitize public opinion on cardiac amyloidosis, increasing knowledge and awareness of the symptoms of the disease, favoring their early identification, timely diagnosis and referring patients to the reference centers. specialized. Furthermore, an animated video broadcast on social networks and on the website www.pfizer.it/il-cuore-lo-sa will tell the impact of the disease and the messages of the campaign in an empathic and emotional way.
Cardiac amyloidosis is a rare disease, linked to the accumulation in the heart muscle of a substance called amyloid, which forms insoluble fibrils which over time are deposited in the spaces between heart cells and compromise their functionality. Three are the most common forms: light chain or Al amyloidosis, with about 600 new cases per year and a prevalence in Italy of about 1,500-2,000 living patients; hereditary transthyretin amyloidosis following a mutation of the transthyretin gene, with about 4-10 cases per million inhabitants; wild type transthyretin amyloidosis without mutation, with approximately 3,000-4,000 patients living in Italy. In the case of transthyretin amyloidosis, early recognition of symptoms and timely diagnosis are crucial to slow disease progression.
Unfortunately, cardiac amyloidosis is still unknown today and the diagnosis often takes place with an average delay of 3-4 years, due to the non-specificity of the symptoms, which can be common to that of other cardiac pathologies and the lack of culture on this. pathology by the medical community.
“The infiltration of fibrils in the myocardium causes a progressive thickening and stiffening of the walls of the ventricles, which causes the gradual impairment of the pump function of the heart with the onset of heart failure – says Laura Obici, medical director of the Center for the study and treatment of systemic amyloidosis, Fondazione Irccs Policlinico San Matteo di Pavia – the first suspicion typically arises on the basis of echocardiographic changes in a patient who requires a consultation for difficulty in breathing or for the appearance of swelling in the legs. The suspicion must start the diagnostic procedure quickly. , with some blood tests aimed at looking for a possible monoclonal component in the serum and urine. If the component is present, a biopsy must be done to search for amyloid; if absent it is useful to do a cardiac scintigraphy with a bone tracer, which is a capable test to see deposits of transthyretin amyloid If the scintigraphy is positive the diagnosis of transthyretin amyloidosis is certain. At this point it is necessary to carry out a genetic test to understand whether it is the hereditary form or the wild-type “.
Many new therapeutic approaches for the treatment of cardiac amyloidosis are undergoing clinical development in referral centers. However, a recent novelty concerns tafamidis (Vyndaqel *), a drug for a few weeks also available in Italy for the treatment of transthyretin amyloidosis both wild type senile non-genetic, and hereditary with mutation of the transthyretin gene in adult patients with cardiomyopathy (ATTR -CM) and reimbursed in class H, following the Aifa decision published in the Official Gazette. The recommended dose is one capsule once a day by mouth. Treatment with tafamidis should be started as soon as possible, in order to make the benefit on the progression of the disease and on the patient’s quality of life more effective.
“Tafamidis – explains Claudio Rapezzi, full professor of Cardiology at the University of Ferrara – represents the first therapeutic solution tested and approved for this form of cardiac amyloidosis. It is a small molecule, administered orally, which manages to reach the protein of transthyretin, to occupy a certain space between the monomers that make up its structure, four monomers to be exact, and to bind them to each other stabilizing the molecule. Tafamidis is effective in controlling both neurological and heart disease “.
The reference figures for the patient are the cardiologist in primis, the neurologist but also the internist, who if prepared can easily suspect the pathology. It is essential to direct the patient to specialized centers of reference, specifically cardiology. The exchange of information and knowledge between doctors and specialized centers is essential, especially now that there are new therapeutic opportunities. To this end, the Sic-Anmco scientific societies are trying to organize and structure an Italian network for the diagnosis and treatment of cardiac amyloidosis in which patients treated in peripheral cardiologies can also refer to the reference cardiologies for further examinations. and instrumental investigations which, in some unclear cases, may be necessary.
“People with this pathology often wait years before receiving a diagnosis or receive an incorrect diagnosis or treatments not suitable for the disease – underlines Eleonora Russo, Rare Disease Medical Director Pfizer Italy -. According to an international survey conducted by the Amyloidosis Research Consortium, About one third of the participants, patients with wild type transthyretin amyloidosis or caregivers, reported a misdiagnosis or misdiagnosis, respectively, by cardiologists; and two thirds of the patients had to see at least 2 cardiologists prior to diagnosis. positive impact in reducing diagnostic delay, Pfizer has for years been engaged in global education, information and awareness initiatives such as “The Heart Knows – Cardiac AMIloidosis: Hear, Monitor, Know.” Not only that. “Pfizer Inc. has developed and validated an artificial intelligence algorithm to assist the clinician in the complex diagnostic process, to facilitate screening systematic of patients with heart failure, clinically useful in identifying subjects at risk who can be sent to targeted investigations to reach the diagnosis earlier “.