Up to 10% of heart failure cases could be caused by cardiac amyloidosis. Yet amyloidosis remains underdiagnosed and misunderstood. Broadening our understanding of this rare disease could contribute to earlier diagnosis, disease progression-halting treatments, and better outcomes. One way to do this is identifying conditions or markers that precede cardiac amyloidosis and signal its potential development.
Anna Jones explains that researchers from the University of Alabama at Birmington’s Marnix E. Heersink School of Medicine, alongside others from Columbia University and Weill Cornell Medicine, sought out to uncover possible risk factors for cardiac amyloidosis. To do so, they sourced data from around 150,000 Americans through the All of Us Research Program. The program is:
A historic effort to collect and study data from one million or more people [who reflect the diversity of] the United States. Our mission is to accelerate health research and medical breakthroughs, enabling individualized prevention, treatment, and care for all of us.
In findings published within Mayo Clinic Proceedings, the researchers found a relationship between heart failure, carpal tunnel syndrome, and amyloidosis. More specifically, the data shows that:
- Having carpal tunnel syndrome correlated to a heightened risk of later having heart failure, and a 3x higher risk of later developing amyloidosis.
- For those who later developed amyloidosis, the amyloidosis typically occurred 10 to 15 years after carpal tunnel syndrome. This suggests that carpal tunnel syndrome could be a precursor for cardiac amyloidosis, highlighting the importance of monitoring patients for systemic amyloid diseases over time.
- TTR genetic mutations cause hereditary amyloidosis. People with a TTR mutation have a 40% higher risk of developing carpal tunnel syndrome, with the risk of development occurring in the fifth or sixth decade of life. TTR mutations also increase the risk of heart failure by age 75. These could come together to alter amyloidosis risk. As such, the researchers believe that better screening measures in someone’s 40s, 50s, or 60s could help identify amyloidosis.
About Cardiac Amyloidosis
Amyloidosis is a condition in which abnormal proteins called amyloids accumulate and form deposits, causing organs to stiffen and lose function. As you might guess from its name, cardiac amyloidosis is a form of amyloidosis where amyloids collect in the cardiac (heart) muscle. This makes it more difficult for the heart to work like it should. Cardiac amyloidosis leads to symptoms and complications such as:
- Shortness of breath that worsens with activity
- Heart palpitations
- Difficulty lying flat at night
- Fatigue
- Exercise intolerance
- Fluid accumulation in the abdomen and legs
- Dizziness and/or lightheadedness
- Excessive urination at night
- Congestive heart failure
- Regurgitant or stenotic valvular disease
Treatment varies. If you have cardiac amyloidosis, speak with your doctor to develop the best care plan for your needs.
Learn more about cardiac amyloidosis.