hATTR-CM (hereditary transthyretin amyloid cardiomyopathy) can be tough to diagnose because the warning signs are sometimes mistaken for other conditions, like atrial fibrillation or heart disease caused by chronic high blood pressure.
Strong self-advocacy skills can help shorten the journey to diagnosis. Knowing your family history, paying close attention to symptoms, and getting second opinions when something doesn’t feel right can make a huge difference.
With today’s testing and treatments, an early diagnosis may help slow your disease progression and improve your quality of life.
Here’s what you need to know.
Recognizing the Early Warning Signs
With hATTR-CM, irregular proteins build up in your heart muscle and replace healthy heart cells. These clusters of protein are called amyloid fibrils. They can affect any part of the body but tend to affect your:
- Joint tissue
- Nerves
- Heart muscle
- Gastrointestinal (GI) tract
Early “red flag” symptoms of hATTR-CM include:
Carpal tunnel syndrome. A condition involving your hands and wrists. It could be linked to hATTR-CM, especially if it’s in both hands.
Peripheral neuropathy. Constant numbness and tingling in your hands and feet.
Orthostatic hypotension. A large drop in blood pressure that causes lightheadedness when you stand up.
Nausea, diarrhea, or constipation. When these symptoms have no known cause, they could point to hATTR-CM.
Repeated tendon tears. Especially if they happen in your biceps or Achilles.
Shortness of breath with activity. This sign usually happens later, but it’s a serious symptom. It could mean that your heart muscle is affected or involved.
Heart palpitations related to arrhythmias. More specifically, atrial fibrillation.
Extreme sleepiness. Fatigue that doesn't improve with rest.
If you notice a combination of these, it's a good idea to talk to your doctor about hATTR-CM, says Lily Stern, MD, a cardiologist and co-director of the Cardiac Amyloid Program at Cedars-Sinai’s Smidt Heart Institute.
“Particularly if you have a family history of unexplained heart disease or neuropathy,” she says.
Delays in Care for hATTR-CM
You may be diagnosed with something else, like carpal tunnel syndrome or heart failure, without your doctors realizing they could be connected to hATTR-CM. GI-related symptoms of the condition tend to be misdiagnosed as irritable bowel syndrome (IBS).
“The challenge with hATTR-CM is that the early symptoms can be subtle and seem unrelated at first,” Stern says. “Some of these non-cardiac [non-heart related] symptoms can present up to 10 years before they present with any heart issues.”
“Each person is touching a different part of the elephant with a blindfold on, so one may think the elephant is a wall and another may think it is a spear,” Stern says. “But they can't take off their blindfold to step back and see that they are all touching an elephant. This is exactly like hATTR-CM.”
You may see a gastroenterologist for GI issues, a neurologist for numbing and tingling, a cardiologist for heart problems, and so on. But if none of these specialists look at your symptoms as a whole, they may never consider hATTR-CM.
That’s why it’s crucial to advocate for yourself and push for a better understanding of what’s happening. Keep all your doctors up to date on any and all concerns, even in areas not related to their specialty. An early diagnosis can greatly affect your quality of life with hATTR-CM.
“When we catch hATTR-CM before there is significant cardiac damage, we have the best opportunity to preserve heart function and quality of life,” Stern says.
In more severe cases, like those with advanced hATTR-CM, a diagnosis can open the door to more treatment options. You may be a good fit for advanced heart disease therapies, like heart transplantation.
“My message to both patients and practitioners taking care of patients is to think of amyloid early and often,” Stern says. “Don't dismiss symptoms without thoroughly considering this diagnosis.”
What It Means to Advocate for Yourself With hATTR-CM
Self-advocacy can bridge the gap between uncertainty about your health and feeling informed and in control of your journey with hATTR-CM.
These tips can help you stay in the driver’s seat:
Keep a symptom journal. Jot down when they happen, how long they last, and if anything makes them better or worse. This can help you explain new details to your doctor. A log creates a trackable pattern that is harder to dismiss.
Be specific about your family history. “Rather than saying ‘heart problems run in my family,’ the most useful framing is as precise as possible: ‘My father died of heart failure at 62,’ ‘My aunt had carpal tunnel and then developed heart problems,’ ‘Several people on my mother's side have had numbness in their feet.’ These details are diagnostic clues,” Fonarow says.
Bring a trusted family member or friend to appointments. You can ask them to take notes for you and bring up anything you forget to mention. This way you’re more present instead of scrambling to write down everything the doctor says.
Be direct. Explain your needs and questions to your doctors without holding back. Don’t feel that you’re “taking up too much time” or being “difficult” by asking for more clarity.
Connect with patient organizations. The Amyloidosis Research Consortium and the Amyloidosis Foundation are great options. You can explore resources, find doctors, and connect with people who understand what you’re experiencing.
Second Opinions and Specialty Care With hATTR-CM
Part of self-advocacy is knowing when it’s time to get a second opinion. If you feel unheard, dismissed, or just want to hear what someone else has to say about your condition, go for a second opinion.
“Know that this is done all the time, and should never trigger any negativity from the health care provider,” says Ronald Witteles, MD, a cardiologist and professor of medicine at Stanford Medical School. “It’s often good to seek care at a specialty/referral center, which often will have more experience with rarer diseases.”
Final Thoughts
With hATTR-CM, self-advocacy is about more than asking questions. It’s about knowing when something isn’t right, continuing to search for answers, educating yourself, and finding a care team that takes your concerns seriously.
Even though there’s no cure yet, hope is on the horizon.
“Ten years ago, we had no therapies,” Witteles says. “Now we have multiple really effective treatments and many more in clinical trials.”
Show Sources
Photo Credit: Moment/Getty images
SOURCES:
Lily Stern, MD, cardiologist; co-director, Cardiac Amyloid Program, Smidt Heart Institute, Cedars-Sinai.
Albert Hicks, MD, cardiologist; medical director, Cardiac Transplantation, University of Maryland School of Medicine.
Ronald Witteles, MD, cardiologist; professor of medicine, Stanford Medical School; co-director, Stanford Amyloid Center; co-director, Stanford Multidisciplinary Sarcoidosis Program.
Gregg Fonarow, MD, cardiologist; volunteer, American Heart Association; member, TRANSLATE-ATTR trial steering committee.
Cleveland Clinic: “ATTR-CM (Transthyretin Amyloid Cardiomyopathy),” “Orthostatic Hypotension.”
