“It’s very likely that many patients who have amyloidosis die without ever knowing they had it,” says Morie Gertz, MD, an amyloidosis expert and professor of medicine at Mayo Clinic in Rochester, Minnesota. Especially for people with diseases of the heart, liver, or kidneys, there’s a small but distinct possibility that amyloidosis either caused or (more likely) contributed in some way to the development of those problems. RELATED: Your Go-To Guide for Heart Disease “Cardiologists are just now becoming more savvy,” meaning they’re more aware of the signs and symptoms of amyloidosis, says Raymond Comenzo, MD, a professor at the Tufts University School of Medicine in Boston and the director of the school’s John C. Davis Myeloma and Amyloid Program. But apart from heart specialists working at major medical centers, there’s a high likelihood that a doctor treating someone with amyloidosis won’t recognize the disease’s indicators, he says. Dr. Comenzo points out that there are roughly 30 different amyloid-producing proteins that can malfunction, each producing different types of amyloidosis as a result — and each having potentially different symptoms. While some types and symptoms are more common than others, all this variability can make diagnosis a struggle. Plus, most symptoms of amyloidosis are what doctors term “nonspecific,” meaning they are not specific to amyloidosis and are linked to a number of different and unrelated medical conditions. Many individuals with amyloidosis will see multiple doctors to address their various symptoms, and it may take years before receiving an accurate diagnosis, according to Comenzo. Additionally, there are individuals with the condition who never manage to get diagnosed. “It’s really hard for patients,” Dr. Gertz says. “I’d say the most common symptoms are swelling, weight loss, shortness of breath with exertion, and numbness or tingling in the feet,” Gertz says. These symptoms usually result from amyloid protein accumulations in a patient’s heart or kidneys. He’s quick to add that, in 100 people with these symptoms, only one (or even none) might turn out to have amyloidosis. But these are the kinds of things that may raise suspicion of amyloidosis. RELATED: AL Amyloidosis Is the Most Common Type, But Still a Rare Disease Comenzo agrees. “If someone has persistent shortness of breath and their doctor can’t figure out why, and they’re also swollen and have lost 40 pounds, then it’s legitimate to push forward and look for amyloidosis,” he says. RELATED: What Is a Urinalysis? Along with checking a patient’s urine for protein, several types of blood testing can provide clues that point toward amyloidosis. These tests may be able to detect an elevated presence of certain antibodies, as well as some biomarkers of heart disease — either of which could help a doctor zero in on one or another form of amyloidosis. (2) Doctors may perform a biopsy on the affected organ — such as the kidneys or heart. But in some cases, they can also look at the tissues of a “surrogate site,” such as abdominal fat, he says. What are they looking for? “If you look at tissue that has amyloid in it, you will see these little needles,” Comenzo explains. “These little needles vary in length, but they have a characteristic width that is diagnostic of amyloid.” Some other types of tissue analysis may also help to confirm the presence of amyloid deposits. “There’s a particular type of dye called Congo red that puts itself between these strands of amyloid fibrils,” Comenzo explains. When this dye is added to amyloid-riddled tissue and looked at under polarized light, the tissue appears to be “apple green,” he says. (However, Congo red staining alone is not enough to diagnose amyloidosis, according to research from 2019.) To pin down the type of amyloidosis someone has, doctors may employ a few different categories of follow-up analysis. For example, “mass spectrometry” is a process that allows doctors to determine which specific type of protein is involved in an individual’s disease. Also, genetic testing can in some cases help doctors pin down specific types of amyloidosis (if there is a genetic component to the disease). (3) RELATED: There Are Different Types of Hereditary Amyloidosis What’s important to know is that diagnosing amyloidosis is usually a complicated and multistage process, Comenzo says. It’s also one that can take weeks or even months to complete. But it’s worth it. A proper diagnosis ensures an amyloidosis patient will receive the type of care and treatment needed for the best possible outcome.
