“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.”
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].”