Home Health Cardiac amyloidosis, what it is and what are the warning signs to distinguish it from heart failure

Cardiac amyloidosis, what it is and what are the warning signs to distinguish it from heart failure

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Wheezing, dizziness, legs swelling for no reason. Sometimes these problems arise from the heart and you need to talk to your doctor right away. With the right tests you can understand if it is heart failure of a rare disease, amyloidosis.

The causes of amyloidosis

It is caused by the accumulation of amyloid in the myocardial tissue, which forms insoluble fibrils that over time are deposited in the spaces between the heart cells and compromise their functionality, like a kind of sticky “glue” that pervades the myocardium, preventing it from contracting normally.

The forms of the disease

Three are the most common forms: of the light chain amyloidosis pathology, with about 600 new cases per year, transthyretin amyloidosis hereditary following a mutation of the transthyretin gene, with about 4-10 cases per million inhabitants and “wild type” transthyretin amyloidosis without mutation, with about 3,000-4,000 patients living in Italy.

(credit: Nephron, CC BY-SA 3.0)

The alarm bells

The alarm bell for the pathology are the symptoms that can suggest heart failure as well as particular conditions, such as bilateral carpal tunnel syndrome, especially in an elderly man, worsening sensitivity disorders in the limbs, or renal alterations, for for example the appearance of protein in the urine. Chronic gastrointestinal manifestations such as diarrhea, nausea and vomiting may also be part of the picture especially in hereditary transthyretin amyloidosis.

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The importance of early diagnosis

Early recognition of the symptoms of the problem and therefore quickly arriving at the diagnosis is essential to slow the progression of the disease with the treatments available. “The infiltration of transthyretin 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 – explains Laura Obici, Medical director of the Center for the study and treatment of systemic amyloidosis, Fondazione Irccs Policlinico San Matteo di Pavia. In addition to wheezing, other signs and symptoms may appear, such as kidney damage and impaired sensitivity in the lower limbs. “

In short, there are several specialists to whom one can refer initially: but if there is involvement of the heart, there are almost always two signals that lead the patient to the cardiologist, wheezing with relative respiratory difficulties and edema of the lower limbs. At that point the echocardiography is done, blood tests are indicated that look for the “trace” of the pathology, or the presence of the characteristic monoclonal component in the blood: then if there is a strong suspicion, a biopsy is performed to search amyloid and possibly a bone tracer scan. “Finally, between the steps of a rapid diagnosis, it is necessary to examine the DNA to understand if it is a hereditary form of cardiac amyloidosis – concludes the expert.”

The therapies

On the treatment front, science has made important progress and now targeted therapies are being developed for the picture. But already today it is available for Transtyretin forms (attr), a drug (tafamidis) that can help patients.

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“The problem with this form of amyloidosis is that transthyretin, a protein produced almost entirely by the liver, is unstable, that is, ready to destabilize, to fibrillate, to polymerize, to form fibrils that precipitate in the tissues in the form of amyloid – he explains Claudio Rapezzi, full professor of Cardiology at the University of Ferrara. Tafamidis represents the first therapeutic solution tested and approved for this pathology and has proved effective in controlling both neurological and heart disease. “It is no coincidence that the experts recall the importance of controlling the entire organism of those who face the disease: In fact, the involvement of the heart is almost never isolated but is always part of a systemic disease in which, depending on the type of protein responsible, damage is associated with other organs or tissues such as the kidneys, liver and peripheral nervous system . And they indicate that it is essential to refer the patient to specialized centers of reference. This is one of the messages of the awareness campaign “The heart knows – cardiac AMYloidosis: Listen, Monitor, Be Informed “, promoted by Pfizer with the aegis of the Italian Society of Cardiology – SIC and in collaboration with the Italian Foundation for the Heart, fAMY Onlus and Conacuore Odv.

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