Deadly ‘irreversible’ heart condition reversed for first time in major breakthrough
Three patients who suffered from potentially deadly heart failure were remarkably freed from their symptoms after their condition was found to have spontaneously reversed, found a new study that reported on the unprecedented cases.
Transthyretin cardiac amyloidosis, the deadly condition, is caused by the build-up of sticky, toxic proteins in the heart. Until now, it was thought to be irreversible as half the patients suffering from the condition died within four years of diagnosis.
But the new study, published recently in the journal The New England Journal of Medicine, reported the cases of three men, aged 68, 76 and 82, who were diagnosed with the condition but later recovered.
Researchers, including those from University College London (UCL), confirmed the symptom reversal using heart scans that showed the build-up of amyloid proteins had cleared.
“We have seen for the first time that the heart can get better with this disease. That has not been known until now and it raises the bar for what might be possible with new treatments,” said study lead author Marianna Fontana from UCL.
Researchers also found evidence that the three men had antibodies that specifically targeted the amyloid proteins – an immune response that was not found in other patients whose condition progressed as normal.
“Whether these antibodies caused the patients’ recovery is not conclusively proven. However, our data indicates that this is highly likely and there is potential for such antibodies to be recreated in a lab and used as a therapy,” said UCL’s Julian Gillmore, another study author.
The condition is known to be caused by deposits composed of a blood protein called transthyretin, and can be either hereditary or non-hereditary.
While current treatments aim to relieve the symptoms of heart failure such as fatigue, swelling in the legs or abdomen and shortness of breath, they do not tackle the amyloid, scientists said.
With advancements in imaging techniques over the decades, clinicians have been able to diagnose substantially more people with the disease.
In the latest study, researchers looked through records of 1,663 patients diagnosed with the deadly condition after one man, aged 68, reported his symptoms improving.
Two more cases were identified after which all three men’s recoveries were confirmed via blood tests and imaging techniques like echocardiography.
Then a heart muscle tissue analysis of one of the patients revealed a strange inflammatory response surrounding the amyloid protein deposits in the heart – a response that was not seen in biopsies from patients in whom the condition had not reversed.
On further analysis, researchers found antibodies in the three patients that bound specifically to the heart protein deposits.
Scientists believe these proteins could be harnessed to build therapies that can suppress the toxic, sticky protein’s production.
“This work not only represents a major breakthrough in our understanding of cardiac amyloidosis, but crucially opens up new possibilities for more effective treatment options,” said Jon Spiers, chief executive of the Royal Free Charity.
