What is amyloidosis? Why is diagnosis often delayed?

Dr. Andrew Cowan of Fred Hutch Cancer Center, who treats the disease, said delayed diagnosis is unfortunately very common.

“This is a rare symptom, so doctors often don’t consider it a diagnosis,” he says. “It is often diagnosed at a more advanced stage. Although survival has improved, some patients, especially those with advanced heart disease, still do not benefit from treatment.”

In light chain amyloidosis, abnormal plasma cells that normally produce protective immune proteins called antibodies instead produce amyloidogenic light chains (the building blocks of antibodies). These light chains are misfolded and deposited in various tissues and organs throughout the body.

Depending on where you land, symptoms can be subtle or sudden, like the pulmonary edema Cox experienced while snorkeling in Hawaii.

That was her first sign that something was wrong.

“Although he almost drowned due to severe pulmonary edema, he was physically very healthy and did not have the typical symptoms that cause cardiomyopathy,” she said. “And I wasn’t diabetic. So they went down the rabbit hole of rare diseases.”

Cowan said some people have few symptoms until they become widespread, but deposits can cause problems in multiple organs over many years.

“Amyloid fibrils in tissues are like concrete, they’re hard,” he says. “Over time, the deposits can affect the organs and stop them from functioning properly. And it can happen to almost any organ.”

The disease also has different forms, including hereditary ones (transthyretin or TTR amyloidosis). Like Cox, most people are diagnosed with AL amyloidosis, also known as primary amyloidosis. There is no known way to prevent it.

What symptoms do you have?

The main reason for the delay in diagnosis is that the warning signs and symptoms are vague and are often mistaken for other diseases.

For example, people with amyloidosis deposits in the heart may experience shortness of breath, abnormal heart rhythms, chest pain, fainting, or difficulty with physical activity.

“With cardiac amyloidosis, the heart becomes stiff and loses its ability to pump blood efficiently,” Dr. Cox says. “There’s not enough blood supply to the left ventricle. It’s extreme cardiomyopathy. When I was diagnosed, the doctors said my heart would never get better. But they’re not going to do that now. A recent CT scan showed that my heart is healing.”

Kidney-related symptoms include decreased urine output, foamy urine, and swelling of the legs, abdomen, arms, and lungs. Nerve-related symptoms of amyloidosis include pain, numbness, or tingling in the hands or feet (also known as peripheral neuropathy). I feel dizzy when I stand up suddenly. Intestinal problems, erectile dysfunction, carpal tunnel syndrome, etc. An enlarged tongue, known as macroglossia, may also be a symptom. Read more about the signs and symptoms of this condition here.

“Over time, patients with renal amyloidosis can develop end-stage renal disease and require dialysis,” Cowan says. “If the bullet lands in the heart, the patient can develop heart failure. Heart transplantation may be considered for a small number of patients, but in general, once damage is done, it is difficult to reverse.” We often lose far too many patients in the first 6 to 12 months after diagnosis because it took forever for the diagnosis to be made.”

As with cancer, the earlier the diagnosis is made, the more likely the patient will be successfully treated.

“When I was diagnosed, there were very few treatments,” Cox said. “But that was five years ago.”