A groundbreaking study has reported on three unprecedented cases of spontaneous reversal of a potentially fatal heart condition known as transthyretin cardiac amyloidosis. This condition is characterized by the accumulation of sticky, toxic proteins in the heart and was previously considered irreversible, with a high mortality rate within four years of diagnosis.
The study, recently published in The New England Journal of Medicine, documented the cases of three men, aged 68, 76, and 82, who were initially diagnosed with transthyretin cardiac amyloidosis but later experienced a recovery of symptoms. Heart scans conducted by researchers, including those from University College London (UCL), confirmed the clearance of amyloid proteins, marking the first evidence that the heart can improve in this disease.
Lead author of the study, Marianna Fontana from UCL, expressed the significance of these findings: “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.” The researchers also identified antibodies in the three patients that specifically targeted the amyloid proteins, suggesting a potential immune response linked to their recovery.
Although the exact role of these antibodies in the patients’ improvement has yet to be conclusively proven, UCL’s Julian Gillmore, another study author, highlighted the potential for recreating these antibodies in a laboratory for use as a therapeutic approach.
Transthyretin cardiac amyloidosis is caused by deposits composed of a blood protein called transthyretin and can be hereditary or non-hereditary. While current treatments aim to alleviate heart failure symptoms, they do not directly address the amyloid buildup.
The study’s researchers reviewed records of 1,663 patients diagnosed with the condition and identified two additional cases following the report of symptom improvement by a 68-year-old man. Blood tests and imaging techniques confirmed the recoveries of all three men. Further analysis of heart muscle tissue from one patient revealed an unusual inflammatory response surrounding the amyloid protein deposits, absent in biopsies from patients whose condition did not reverse.
Scientists believe that these specific antibodies found in the three patients could hold the key to developing therapies capable of suppressing the production of toxic amyloid proteins. The breakthrough findings not only advance our understanding of cardiac amyloidosis but also pave the way for more effective treatment options, opening new possibilities for patients with this condition.