Researchers have observed and described for the first time reversal transthyretin-related amyloid cardiomyopathy (ATTR-CM), a heart disease that kills 50% of patients within 4 years of diagnosis. The role of protective antibodies, which could lead to new life-saving therapies, is considered very likely.
For the first time it was observedinversion of a rare heart disease which, once diagnosed, results in the death of 50 percent of patients within just four years. The elimination of symptomswith a return to a state of health of Heart almost normal, was observed in three men suffering from the disease, call transthyretin-related amyloid cardiomyopathy (ATTR-CM). Come specified by the Observatory for Rare Diseases, it is “a rare and life-threatening disease due to the accumulation of abnormal deposits of a misfolded protein – called amyloid – in the heart”. The accumulation of this protein sticky, similar to that linked to Alzheimer’s diseasecauses “restrictive cardiomyopathy and progressive heart failure”. In simple words, aheart failure which is lethal for many people.
The researchers who studied the cases of the three patients argue that their improvement is most likely related to specific antibodiesdetected after highlighting a peculiar inflammatory state in one of the men who “mysteriously” came out of the condition, considered incurable. The hope is that these antibodies can be engineered in the laboratory to develop an effective therapy against transthyretin-related amyloid cardiomyopathy. At present it is mainly treated by keeping the symptoms at bay, such as fatigue e respiratory difficulties with exercise. Recently, however, the US Food and Drug Administration (FDA) has approved the drugs tafamidis meglumine e tafamidis designed against transthyretin (the protein that accumulates in the heart), managing to reduce the mortality and hospitalizations for the condition. ATTR-CM can be hereditary or “wild-type”, ie sporadic.
The first cases of reversal of severe heart disease were described by an international research team led by scientists from University College London, who collaborated closely with colleagues from the IRCCS Azienda Ospedaliero–Universitaria di Bologna, the National Institutes of Health and other institutes. The researchers, coordinated by Professor Marianna Fontana of the Division of Medicine of the London University, after taking over a improvement of symptoms in a 68-year-old man being treated at the Royal Free Charity, they began investigating the records of patients suffering from the serious illness, discovering two others with a similar course.
As explained in a University College London press release, “the three men’s recoveries were confirmed through blood tests, several imaging techniques including echocardiography (a type of ultrasound), CMR scans and scintigraphy (a nuclear medicine bone scan), and, for one patient , an assessment of exercise capacity”. “The CMR scans – cardiovascular magnetic resonance NDR – showed that the structure and function of the heart had returned to a near normal state and the amyloid was almost completely eliminated,” the researchers added.
The analyzes conducted on these patients have revealed the signs of a immune response specific, with antibodies specifically targeting amyloid. They believe that it was precisely these immunoglobulins that made the three men aged 68, 76 and 82 recover. “It has not been conclusively proven whether these antibodies caused the patients to recover. However, our data indicate that this is highly probable and that there is a possibility that such antibodies could be recreated in the laboratory and used as a therapy. We are currently investigating this further, although this research remains in a preliminary stage,” said Professor Julian Gillmore, study co-author and head of the UCL Center for Amyloidosis. “We have seen for the first time that the heart can improve with this disease. This was not known until now and raises the bar for what might be possible with new treatments,” echoed Professor Fontana. The details of the research “Antibody-Associated Reversal of ATTR Amyloidosis–Related Cardiomyopathywere published in an article published in The New England Journal of Medicine.