“It took almost three years to get a proper diagnosis,” said Scott, a retired firefighter and paramedic who has hereditary transthyretin amyloidosis (hATTR). It is not uncommon that those living with hATTR recall the misses they went through before receiving an accurate diagnosis. “When I finally did the lab work and it proved it…thank goodness…the doors just opened. And that’s where it really started helping me to figure out this is what it is, this is what we can do, this is where we’re going to go.”
Scott, patient living with hATTR, and his wife and caregiver, Kelli
hATTR is a progressive, inherited condition caused by misfolded transthyretin (TTR) protein that builds up as amyloid deposits in organs and tissues, interfering with how those organs function. Because symptoms often resemble more common conditions, hATTR is frequently underdiagnosed, and diagnosis may be delayed by an average of 3-8 years from symptom onset. Those delays aren’t just a clinical issue—they can negatively impact patient’s health outcomes and well-being.
Why amyloidosis is often missed
"I was having a dizzy spell and the ER doctor thought I was having a heart attack," said Otis, a beef farmer from Alabama who lives with hATTR. He went on to explain that despite all the underlying symptoms he didn’t receive clarity until he insisted on being sent to UAB Medical Center in Alabama, “My family physician told me he had never heard of [ATTR].”
Otis, patient living with hATTR
hATTR can affect multiple organs, which means it may show up in very different ways depending on the person. Some patients experience symptoms of heart failure, including shortness of breath, fatigue or swelling of the extremities. Others have pain, numbness, or weakness in the hands and feet, gastrointestinal issues or kidney problems. These symptoms can be mistakenly attributed to other chronic conditions.
For Alan, a grandfather and retired consultant from Wisconsin, there were two specific symptoms that raised suspicion. “I had weight gain and was out of breath. My cardiologist asked if I ever had carpal tunnel, of which I had been diagnosed with the bilateral type, and two months later, I was confirmed as having ATTR. But that was already years too late.”
Alan, patient living with hATTR
Navigating the journey to diagnosis
Navigating hATTR may feel frustrating but there are resources that can help this journey feel less overwhelming.
- Self-Advocacy: Since symptoms can be non-specific, ask your doctor about hATTR to explore or rule out whether that could be a cause. As Scott recalls, “You have to do your own homework.” Being prepared for discussions with your providers can be a helpful step. Resources such as myATTRroadmap can help you identify and keep track of red-flag symptoms and guide you in preparing for a doctor’s visit
- Community Support: Being an advocate for yourself doesn’t mean you’re alone in your journey. As Scott explains, “This is all kind of new to me and to Kelly (his wife and caretaker) – to experience something so rare and try to understand it. Just finding people to talk to – that’s huge. It’s nice knowing someone else is close by and understands what you’re dealing with.” Community groups such as Amyloidosis Research Consortium, Amyloidosis Army, Amyloidosis Foundation, Amyloidosis Support Groups and Mackenzie’s Mission have numerous resources and structured support that can make a difference
Mike Lane from Amyloidosis Army knows how important self-advocacy and community support is for patients, “This is the first generation of patients with treatments—we have to fight it out for everyone else. If everybody takes up a piece, we can get the job done.” Regardless of where you stand in your hATTR journey you don’t have to go alone.
If you have lasting symptoms or a family history of amyloidosis, talk with your doctor. Early testing and care can help protect your organs and preserve your quality of life.
