His story told in a video to raise awareness of cardiac amyloidosis, a disease still under-diagnosed today and, therefore, often fatal
Antonio, 75 years old, discovered by chance, during checkups, that he had a rare disease that mainly affects the heart, cardiac amyloidosis. «I’ve always been fine, then a year and a half ago, doing some routine tests, I was diagnosed with hypertrophic cardiomyopathy; reality can be cruel, you make a life journey and then you realize that you can bequeath a disease to your children and grandchildren. In those three months I did everything, I was diagnosed with cardiac amyloidosis from transthyretin in the “wild type” form, later confirmed by genetic testing. I wish everyone could get one early diagnosis because from there we start with the therapy: Now there are drugs that stabilize the disease. There is hope». Antonio is the protagonist of the short documentary «Antonio – Those who experience cardiac amyloidosis have something to tell you», which is part of the communication campaign created by Rare Disease Observatory – in collaboration with Italian Association of Familial Amyloidosis onlus (fAMY), Italian Heart FoundationConacuore and with the non-conditioning contribution of Pfizer – with the aim of making citizens, the scientific community and institutions aware of a disease still under-diagnosed and, therefore, often fatal.
Antonio’s path to getting to the diagnosis was quite simple, but that’s not always the case. Identifying the pathology as soon as possible, which can progress rapidly, is essential in order to be able to access treatment promptly. Amyloidoses are a group of rare pathologies (about thirty) characterized by the harmful accumulation of amyloid substance within the body. The heart, in particular, is the target organ where amyloid is most frequently deposited, resulting in a condition called cardiac amyloidosis. “Exist different forms of amyloidosis, each due to a specific protein – explains Francesco Cappelli, cardiologist at the Center for the study and treatment of amyloidosis of the Careggi University Hospital in Florence -. These are multi-system diseases, which affect numerous organs and tissues such as kidneys, gastrointestinal tract, liver, skin, nerves and eyes. One of the organs mainly involved is the heart,
who develops infiltrative heart disease and progressive heart failure. For this reason the term “cardiac amyloidosis“is used to define heart disease associated with amyloidosis.”
“L’cardiac amyloidosis – clarifies Marco Canepa, cardiologist at the Policlinico San Martino IRCCS in Genoa – is present in two forms, one hereditary caused by mutations of the TTR gene which manifests itself earlier, starting from the age of 50, e one acquired (senile “wild type” TTR or SSA systemic amyloidosis) due to deposits of unmutated TTR occurring in older individuals, 60 to 80 years of age. It’s possible
thatespecially where there is no anticipated onset, lhe disease is still confused with others, therefore under-diagnosed. Patients on average live 2 to 4 years after diagnosis, depending on their condition at the time of recognition of the disease. It is therefore advisable to guarantee a holistic care – managed by a multidisciplinary team – and in a homogeneous way throughout the national territory”.
February 1, 2023 (change February 1, 2023 | 1:03 pm)
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