When Sally Cox was diagnosed with light chain amyloidosis (AL) in 2019, she was shocked. Not only had she never heard of the rare disease that causes abnormal proteins (or amyloids) to build up in your tissues and organs, the more she learned, the more she realized how devastating it was.
“I was diagnosed on a Friday at 5 p.m. and told ‘You’ve got six months to live,’” said the Seattle 60-year-old who owns an organic food business. “Then the doctor said to make an appointment to see her in three to four weeks! Instead, I went online and found an amyloidosis support group. They put me in touch with Fred Hutch and UW Medicine.”
Cox said the most disturbing thing she discovered about the disease was that there were no FDA-approved treatments for it, the main reason she agreed to participate in a clinical trial.
Amyloidosis is not a cancer, but it is associated with the blood cancer multiple myeloma and in the past, patients were treated with similar protocols. Clinical trials, the means by which new therapies are tested out on patients in order to gain approval from the U.S. Food & Drug Administration, have been crucial in finding effective treatments for the condition.
But before a person can enroll in a clinical trial, they must first be diagnosed. And that’s often a problem for these patients.
“It only took me two hematologists to diagnosis it,” Cox said. “I was fortunate to be diagnosed so quickly. Sometimes people can go several years and go to many different doctors only to find out too late the amyloidosis has damaged vital organs such as the heart and kidneys.”
What’s amyloidosis and why is it often diagnosed late?
Fred Hutch Cancer Center’s Andrew Cowan, MD, who treats the disease, said delayed diagnosis is unfortunately quite common.
“It’s an uncommon condition, so physicians often don’t consider the diagnosis,” he said. “It’s often diagnosed at a more advanced stage. Although survival has improved, some patients, especially those with advanced cardiac involvement, still don’t benefit as much from therapy.”
In light chain amyloidosis, abnormal plasma cells, which normally make protective immune proteins called antibodies, instead produce amyloidogenic light chains (a component of antibodies). These light chains misfold, depositing in various tissues and organs throughout the body.
Depending on where they land, the symptoms can be subtle or sudden, as in the pulmonary edema that Cox experienced while snorkeling in Hawaii.
That was her first indication that anything was wrong.
“I almost drowned due to massive pulmonary edema, but I was very physically fit and didn’t have the typical indications for someone with cardiomyopathy, which would have caused that,” she said. “Also, I didn’t have diabetes. So they went down the rabbit hole of rare diseases.”
Cowan said the deposits can cause issues with multiple organs over the years, although some people have few symptoms until the condition is prevalent.
“When they’re in the tissues, the amyloid fibrils are like concrete, they’re stiff,” he said. “Over time, the deposits affect the organs and then they can’t function properly. And it can happen to almost any organ.”
There are also different forms of the disease, including one that’s hereditary (transthyretin or TTR amyloidosis). Most people, like Cox, are diagnosed with AL amyloidosis, also known as primary amyloidosis. There are no known ways to prevent it.