Once a death sentence, this heart condition is finally treatable
Hicks, a former railroad worker from Rogers, Arkansas, had quietly dealt with various health problems, from carpal tunnel syndrome in both arms to dual knee replacements. But now his heart was giving out, and the doctors chalked it up to the wear and tear of old age. 'There's just not exactly a surgery to fix this,' he said.
Soon enough, Hicks couldn't walk from his grandson's high school basketball game to the car, without stopping several times to catch his breath. His feet and ankles would swell if he didn't elevate them. He could feel his heart racing uncontrollably, unable to find a steady rhythm. Hicks' doctors tried a half-dozen different medications, but nothing really helped.
It wasn't until 2023, some 10 years after the original diagnosis, that a local cardiologist raised the possibility of cardiac amyloidosis, a little-known form of heart failure.
Over the past 50 years, heart failure has become one of the fastest-growing cardiac killers. It was long considered a disease of aging, caused by gradual yet unavoidable changes to the heart. But doctors are now discovering that about 15% of cases are caused by a rogue protein called amyloid, perhaps best known for its role in Alzheimer's. While one type tangles neurons in the brain, others infiltrate the heart, making the muscle stiff and less able to pump blood.
Until recently, cardiac amyloidosis was a death sentence, but the advent of new medications, including two approved by the Food and Drug Administration in the past year, have made this disease increasingly manageable. 'We shouldn't just be fatalistic — 'you're tired, you're short of breath, you're just old,' ' said Dr. Michelle Kittleson, a cardiologist at Cedars-Sinai Medical Center. 'There is a lot of hope for people with heart failure.'
Diagnoses on the Rise
For decades, cardiac amyloidosis was cast aside as a rare disease. Early signs include carpal tunnel syndrome, a narrowing of the spine and a rupture of the biceps tendon, as amyloid plaques accumulate across the body. But with little awareness of the condition, it was difficult for doctors to connect the dots.
And there was little incentive to do so, Kittleson said, because without any treatments for cardiac amyloidosis, they could only stand by and watch patients succumb to the disease.
To get diagnosed, then, was like stepping into the darkness, said Ozzie Giglio, 64, who learned he had cardiac amyloidosis in 2016. He recalled his doctor saying, 'I want to get you on the heart transplant list right away. That's the only way to save your life.'
But as researchers developed easier ways to spot cardiac amyloidosis, more patients were diagnosed, said Mathew Maurer, a cardiologist at Columbia University Irving Medical Center. Instead of needing to biopsy the heart, doctors can now use a scan that lights up amyloid plaques, and test patients' blood and urine for the abnormal protein, he added.
However, the turning point for cardiac amyloidosis was the development of effective treatments. With doctors now able to help patients, there was an 'explosion in recognition,' Kittleson said.
Experts believe cardiac amyloidosis is most common among men, adults 75 or older, and Black people. But nobody knows for sure, since many patients aren't tested. 'I can't give you a prevalence estimate, but clearly, we're at the tip of the iceberg in older populations,' Kittleson said.
The New Drugs Are Lifesaving
What makes cardiac amyloidosis so deadly is that the abnormal protein gets between the fibers of the heart, stiffening the muscle and impairing the heart's rhythm, said Dr. Pablo Quintero Pinzon, a cardiologist at Beth Israel Deaconess Medical Center. Some forms are hereditary; others occur spontaneously for reasons experts don't yet understand.
Two types of misfolded proteins usually cause cardiac amyloidosis, but the new drugs target only one of them, transthyretin, either silencing its production or stabilizing the molecule so that it doesn't infiltrate the heart, Quintero said.
Trials published in the New England Journal of Medicine — and funded by pharmaceutical companies — showed that these new drugs (tafamidis, acoramidis, and vutrisiran) preserved quality of life and reduced deaths by 25 to 35% compared to a placebo. In the most recent trial, patients on vutrisiran lived nearly as long as the general population.
'We might be living in an era where you will die with cardiac amyloidosis as opposed to from it,' Kittleson said.
The Journal of the American College of Cardiology dedicated its latest issue to cardiac amyloidosis. New research shows how vutrisiran improves some measures of heart relaxation and muscle damage, while staving off further declines in heart contraction and wall stress.
With the current diagnostic tools, there aren't good ways to know if patients with cardiac amyloidosis are responding to treatment. But these new findings suggest that doctors can use echocardiogram scans and blood-based biomarkers to monitor patients' progress and potentially predict survival, said Quintero, who was not involved in this research.
When Marc Israel was diagnosed with the disease in 2020, doctors told him he could expect to live 12 to 18 months without treatment. But Israel, 77, was quickly able to get on tafamidis. 'And here I am, five years later,' he said.
Several Questions Remain
For all their benefits, these drugs don't cure the disease; they just 'freeze' patients at whatever stage of heart failure they're in, Kittleson said. The ability of the medications to reduce the risk of death also drops precipitously as time goes on.
That's why early diagnosis is so important, and why researchers are eagerly awaiting results for a new drug designed to remove amyloid from the heart even after it's built up.
There's also still a question of how many patients will be able to afford the drugs. They are incredibly expensive, costing $250,000 to $500,000 per year. Medicare covers all three medications, so most patients won't pay more than $2,000 out of pocket each year. But that's still a heavy burden on the broader health care system, Maurer said.
For patients, the treatment can be life-changing. With his cardiac amyloidosis and irregular heartbeats under control, Hicks has gone back to riding his e-bike 100 miles every week and lifting dumbbells in his home gym. 'I don't feel 75 years old anymore; I feel much younger,' he said. 'It's hard to think that I've got some disease in my body.'
This article originally appeared in
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4 days ago
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Once a death sentence, this heart condition is finally treatable
When James Hicks, 75, was diagnosed with heart failure, it felt like the beginning of the end. Hicks, a former railroad worker from Rogers, Arkansas, had quietly dealt with various health problems, from carpal tunnel syndrome in both arms to dual knee replacements. But now his heart was giving out, and the doctors chalked it up to the wear and tear of old age. 'There's just not exactly a surgery to fix this,' he said. Soon enough, Hicks couldn't walk from his grandson's high school basketball game to the car, without stopping several times to catch his breath. His feet and ankles would swell if he didn't elevate them. He could feel his heart racing uncontrollably, unable to find a steady rhythm. Hicks' doctors tried a half-dozen different medications, but nothing really helped. It wasn't until 2023, some 10 years after the original diagnosis, that a local cardiologist raised the possibility of cardiac amyloidosis, a little-known form of heart failure. Over the past 50 years, heart failure has become one of the fastest-growing cardiac killers. It was long considered a disease of aging, caused by gradual yet unavoidable changes to the heart. But doctors are now discovering that about 15% of cases are caused by a rogue protein called amyloid, perhaps best known for its role in Alzheimer's. While one type tangles neurons in the brain, others infiltrate the heart, making the muscle stiff and less able to pump blood. Until recently, cardiac amyloidosis was a death sentence, but the advent of new medications, including two approved by the Food and Drug Administration in the past year, have made this disease increasingly manageable. 'We shouldn't just be fatalistic — 'you're tired, you're short of breath, you're just old,' ' said Dr. Michelle Kittleson, a cardiologist at Cedars-Sinai Medical Center. 'There is a lot of hope for people with heart failure.' Diagnoses on the Rise For decades, cardiac amyloidosis was cast aside as a rare disease. Early signs include carpal tunnel syndrome, a narrowing of the spine and a rupture of the biceps tendon, as amyloid plaques accumulate across the body. But with little awareness of the condition, it was difficult for doctors to connect the dots. And there was little incentive to do so, Kittleson said, because without any treatments for cardiac amyloidosis, they could only stand by and watch patients succumb to the disease. To get diagnosed, then, was like stepping into the darkness, said Ozzie Giglio, 64, who learned he had cardiac amyloidosis in 2016. He recalled his doctor saying, 'I want to get you on the heart transplant list right away. That's the only way to save your life.' But as researchers developed easier ways to spot cardiac amyloidosis, more patients were diagnosed, said Mathew Maurer, a cardiologist at Columbia University Irving Medical Center. Instead of needing to biopsy the heart, doctors can now use a scan that lights up amyloid plaques, and test patients' blood and urine for the abnormal protein, he added. However, the turning point for cardiac amyloidosis was the development of effective treatments. With doctors now able to help patients, there was an 'explosion in recognition,' Kittleson said. Experts believe cardiac amyloidosis is most common among men, adults 75 or older, and Black people. But nobody knows for sure, since many patients aren't tested. 'I can't give you a prevalence estimate, but clearly, we're at the tip of the iceberg in older populations,' Kittleson said. The New Drugs Are Lifesaving What makes cardiac amyloidosis so deadly is that the abnormal protein gets between the fibers of the heart, stiffening the muscle and impairing the heart's rhythm, said Dr. Pablo Quintero Pinzon, a cardiologist at Beth Israel Deaconess Medical Center. Some forms are hereditary; others occur spontaneously for reasons experts don't yet understand. Two types of misfolded proteins usually cause cardiac amyloidosis, but the new drugs target only one of them, transthyretin, either silencing its production or stabilizing the molecule so that it doesn't infiltrate the heart, Quintero said. Trials published in the New England Journal of Medicine — and funded by pharmaceutical companies — showed that these new drugs (tafamidis, acoramidis, and vutrisiran) preserved quality of life and reduced deaths by 25 to 35% compared to a placebo. In the most recent trial, patients on vutrisiran lived nearly as long as the general population. 'We might be living in an era where you will die with cardiac amyloidosis as opposed to from it,' Kittleson said. The Journal of the American College of Cardiology dedicated its latest issue to cardiac amyloidosis. New research shows how vutrisiran improves some measures of heart relaxation and muscle damage, while staving off further declines in heart contraction and wall stress. With the current diagnostic tools, there aren't good ways to know if patients with cardiac amyloidosis are responding to treatment. But these new findings suggest that doctors can use echocardiogram scans and blood-based biomarkers to monitor patients' progress and potentially predict survival, said Quintero, who was not involved in this research. When Marc Israel was diagnosed with the disease in 2020, doctors told him he could expect to live 12 to 18 months without treatment. But Israel, 77, was quickly able to get on tafamidis. 'And here I am, five years later,' he said. Several Questions Remain For all their benefits, these drugs don't cure the disease; they just 'freeze' patients at whatever stage of heart failure they're in, Kittleson said. The ability of the medications to reduce the risk of death also drops precipitously as time goes on. That's why early diagnosis is so important, and why researchers are eagerly awaiting results for a new drug designed to remove amyloid from the heart even after it's built up. There's also still a question of how many patients will be able to afford the drugs. They are incredibly expensive, costing $250,000 to $500,000 per year. Medicare covers all three medications, so most patients won't pay more than $2,000 out of pocket each year. But that's still a heavy burden on the broader health care system, Maurer said. For patients, the treatment can be life-changing. With his cardiac amyloidosis and irregular heartbeats under control, Hicks has gone back to riding his e-bike 100 miles every week and lifting dumbbells in his home gym. 'I don't feel 75 years old anymore; I feel much younger,' he said. 'It's hard to think that I've got some disease in my body.' This article originally appeared in
Observer
04-03-2025
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Why do women live longer than men?
Women outlive men by something of a long shot: In the United States, women have a life expectancy of about 80, compared with around 75 for men. This holds regardless of where women live, how much money they make, and many other factors. It's even true for most other mammals. 'It's a very robust phenomenon all over the world, totally conserved in sickness, during famines, during epidemics, even during times of starvation,' said Dr. Dena Dubal, a professor of neurology at the University of California, San Francisco. But the reasons women live longer are complicated and less established — and the fact that they are outliving men doesn't necessarily mean they are living better. Women tend to have shorter health spans (the number of healthy years a person lives) than men, said Bérénice Benayoun, an associate professor at the USC Leonard Davis School of Gerontology. Women are generally more physically frail than men in old age; they're also more vulnerable, particularly after menopause, to developing cardiovascular issues and Alzheimer's disease, in part because age itself is a risk factor for those conditions, Benayoun said. Scientists are trying to uncover the reasons men and women age differently in the hopes of extending the life span and health span for both. 'If we can understand what makes one sex more resilient or vulnerable, then we have new pathways, new molecular understanding, for new therapeutics that could help one or both sexes also be resilient,' Dubal said. Here's what they know so far about what causes the longevity gap. Genetics A growing body of research suggests that the XX set of female sex chromosomes (which, along with other chromosomes, carry our DNA) may impact longevity, though it's not clear exactly how. For example, a 2018 study conducted by Dubal's lab looked at genetically manipulated mice with different combinations of sex chromosomes and reproductive organs. Those with two X chromosomes and ovaries lived longest, followed by mice with two X chromosomes and testes. Mice with XY chromosomes had shorter life spans. 'There was something about the second X chromosome that was protecting the mice from dying earlier in life, even if they had testes,' Dubal said. 'What if there was something on that second X chromosome that was in some ways a sprinkle of the fountain of youth?' Scientists haven't yet examined this in humans, but Dubal said the fact that we have the same hormones and sex chromosomes and similar reproductive systems suggests that the findings could be similar in people. Epigenetic factors — environmental or lifestyle elements like climate or chronic stress that impact which genes are expressed, and how — may also play a role in life span, widening or shrinking the disparities between men and women, said Montserrat Anguera, an associate professor of biomedical sciences at the University of Pennsylvania School of Veterinary Medicine, who studies this topic. Hormones Researchers are also investigating the role of sex hormones like estrogen in longevity and are especially interested in the effect they have on the immune system. 'Decent data is showing that, at least before menopause, the female immune system tends to be better, more on it and better able to mount responses,' Benayoun said. In general, males 'tend to do much worse in response to infection,' which in turn could shorten their life spans; they're also more likely than women to die of sepsis, she said. One 2017 analysis found that women who experienced menopause later in life — older than 50 — lived longer than those who experienced it earlier. When estrogen levels drop, such as during menopause, women's immune systems seem to weaken. Women tend to catch up to (or surpass) men in terms of developing diseases that were less common before menopause, Benayoun said. Lifestyle and Behavior Behavioral patterns play a key role in the disparity. Women are generally less likely than men to smoke or drink heavily — behaviors that contribute significantly to mortality, said Kyle Bourassa, a psychologist and a senior fellow at the Center for the Study of Aging and Human Development at Duke University. Women also tend to practice more 'health-promoting behavior,' like wearing a seat belt or going to the doctor for annual checkups, Bourassa said. In addition, he said that women are more likely than men to socialize, protecting them from the detrimental effects of social isolation and loneliness. A 2023 analysis found they're also less likely to die by drug overdose or suicide. External Factors On a broader societal level, issues like war or gun violence disproportionately impact men, said Naoko Muramatsu, a professor of community health sciences at the University of Illinois Chicago. During the COVID pandemic, men died at higher rates than women. Research showed that they were more likely to hold jobs that exposed them to the virus, like food preparation or construction, or to be homeless or incarcerated, all of which affected mortality rates. Ultimately, it's a combination of all these factors that determines the life span gap, said Alan Cohen, an associate professor of environmental health sciences at Columbia University Mailman School of Public Health. 'There's probably a thousand ways that that's happening.' And even though we do have control over some factors, like drinking, smoking and diet, it's not yet clear how significantly longevity would be impacted by changing those behaviors, Bourassa said. 'We need randomized control trials to tease these things apart,' he said. This article originally appeared in
Observer
23-11-2024
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Many kids' melatonin supplements don't contain the doses they claim
Gummies, chocolate and even jelly beans: Melatonin supplements marketed for children are popular among parents struggling to get kids to sleep and are often recommended by doctors for this purpose. But the amount of melatonin in these products can vary enormously, with some products containing none at all and others containing a potentially hazardous amount, according to a new analysis of 110 products marketed as melatonin for children. The study, led by a team of researchers including Food and Drug Administration scientists, found that only half of the products tested contained the amount of melatonin claimed on the package. Some contained up to 50 milligrams — many times more than the 0.5 to 1 milligram starting dose that some pediatric sleep experts recommend. Experts say the findings raise urgent questions about the safety and quality of the melatonin products that more parents are turning to as sleep aids for their children. 'How can clinicians and parents make informed decisions about safety and efficacy when we have no idea what dose of melatonin children are actually receiving?' said Julie Boergers, co-director of the pediatric sleep disorders clinic at Brown University Health. Melatonin products, which deliver either a natural or synthetic version of a hormone produced by the body at night to help regulate sleep, have been used as sleep aids by adults in the United States for decades. But researchers have seen a sharp uptick in use among children in the last few years. Early in the COVID-19 pandemic, a survey conducted by YouGov for The New York Times found that nearly half of children with trouble sleeping had taken it. Another survey, conducted in 2023 by Boergers and her colleagues, found that about 18% of children ages 5 to 9 and about 6% of children ages 1 to 4 had been given melatonin in the previous month. Manufacturers have responded to the demand by making products specifically for use by children, including chocolates and jelly beans. The products sometimes claim to have lower doses than adult supplements typically contain. The supplements analyzed in the study included products sold at big-box retailers and pharmacy chains, and on Amazon. But because they are considered dietary supplements, they are not subject to the same safety and efficacy standards, or the same level of testing, as pharmaceuticals sold in the United States, said Pieter Cohen, an associate professor at Harvard Medical School who studies supplements, including melatonin. Cohen has conducted research showing that melatonin gummies often do not contain the amount claimed on the label. 'A company can put out what they want, and no one's following up on testing or efficacy,' said Dr. Binal Kancherla, a pediatric sleep medicine specialist at the Texas Children's Hospital in Houston. 'It's all anecdotal.' For some parents who use the supplements, there's no question that melatonin can help their children feel sleepy. But whether it's effective in helping them fall asleep sooner and stay asleep for longer is less well understood. Many studies on the sleep benefits of melatonin for children have relied upon a small number of subjects, and some studies have failed to show any benefit. There is some evidence that melatonin can help treat sleep problems for certain children, including adolescents entering puberty, for whom a natural delay in melatonin secretion leads to delayed sleep, and some children with autism spectrum disorders. Kancherla said that she often prescribed melatonin to children to help with sleep issues, as the best of a limited set of treatment options for children. No sleeping medication has been approved for use in children, but doctors sometimes prescribe other drugs off label to help them sleep. She called the results of the new study 'alarming, but not surprising.' The FDA said the results of the study 'will be taken into consideration' but declined to discuss how it would further evaluate the safety of melatonin supplements. Experts said it wasn't clear what health risks too much melatonin might pose to children or what constitutes too high of a dose. An overdose can cause excessive drowsiness, stomach pain and dizziness. In recent years, more children have unintentionally ingested melatonin, sometimes accessing bottles without child-safe packaging. This has led to a rise in calls to poison centers and visits to emergency rooms across the United States, according to the Centers for Disease Control and Prevention. Few of the approximately 11,000 emergency room visits for accidental melatonin ingestion between 2019 and 2022 resulted in children being hospitalized. The CDC has said that more research was needed to understand the potential harms to children. Boergers advised that families use only pharmaceutical-grade melatonin, over-the-counter supplements that have been third-party tested by an independent nonprofit, so that they could be confident in the amount listed on the label. Cohen said that when used appropriately, and in very small dosages, melatonin was considered safe. It's unfortunate, he said, 'that the lack of quality control of the products leads to situations where kids are exposed to dosages that are greatly exceeding what's considered reasonable.' This article originally appeared in
