A recent study has reported on three remarkable cases where patients with potentially fatal heart failure experienced spontaneous reversal of their symptoms. The condition, known as transthyretin cardiac amyloidosis, is caused by the accumulation of toxic proteins in the heart. Previously considered irreversible, with a high mortality rate within four years of diagnosis, this study challenges that notion.
The research, published in The New England Journal of Medicine and conducted by a team including University College London (UCL) researchers, highlighted the cases of three men aged 68, 76, and 82 who were diagnosed with the condition but later showed signs of recovery. Heart scans confirmed that the buildup of amyloid proteins had cleared.
Lead author of the study, Marianna Fontana from UCL, commented, “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.”
Researchers also discovered that the three men had antibodies specifically targeting the amyloid proteins, unlike other patients whose condition progressed as expected. While it is not conclusively proven whether these antibodies caused the recovery, the data strongly suggests their involvement and opens up the potential for recreating similar antibodies in the lab as a therapeutic approach, according to Julian Gillmore from UCL.
Transthyretin cardiac amyloidosis is characterized by the accumulation of transthyretin, a blood protein, and can be hereditary or non-hereditary. Current treatments focus on alleviating symptoms of heart failure, such as fatigue, leg or abdominal swelling, and shortness of breath, but do not address the underlying amyloidosis.
Advancements in imaging techniques have facilitated the diagnosis of an increasing number of individuals with the disease over the years. In this study, researchers examined the records of 1,663 patients diagnosed with the condition after one patient, aged 68, reported an improvement in symptoms. Two additional cases were identified, and all three patients’ recoveries were confirmed through blood tests and imaging techniques like echocardiography.
Furthermore, analysis of heart muscle tissue from one patient revealed an unusual inflammatory response surrounding the amyloid protein deposits in the heart, which was absent in biopsies from patients whose condition had not reversed.
Upon further investigation, researchers identified antibodies in the three patients that specifically bound to the protein deposits in the heart. Scientists believe these proteins could be utilized to develop therapies that suppress the production of toxic and adhesive proteins.
Jon Spiers, chief executive of the Royal Free Charity, hailed this work as not only a significant breakthrough in understanding cardiac amyloidosis but also an opportunity to explore more effective treatment options.