Bob DiCola noticed something was off with his hands.
As a drummer, who has spent years keeping time with bands like the Pittsburgh PolkaMeisters and Miss Freddye in Philadelphia, United States, even a slight change in grip stood out.
The tingling in his fingers didn’t just feel unusual; it threatened both the 70-year-old’s passion for music and his very life.
Diagnostic difficulties
The path to a diagnosis of a type of amyloidosis proved long and complex.
Once viewed as a rare and largely untreatable disease, often diagnosed only after years of unexplained symptoms and progressive heart damage, growing awareness and a wave of new therapies are transforming outcomes for patients, especially when the condition is caught early.
“It’s not uncommon that you’ll see individual symptoms pop up at different points of time, and until somebody kind of takes a pause and puts together all the pieces and says, ‘Hey, these are all potentially connected to one thing’, it is not uncommon that people” aren’t diagnosed with amyloidosis for more than two years after onset, explained DiCola’s doctor, Daniel Davies, a cardiologist and medical director of Allegheny Health Network’s cardiac amyloidosis programme.
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Amyloidosis occurs when the amyloid protein, which is produced naturally by the body, becomes unstable, misfolds and deposits throughout tissues and organs.
In cardiac amyloidosis, those deposits build up within the heart muscle, causing it to stiffen and making it increasingly difficult to pump blood effectively.
But the disease often reveals itself elsewhere in the body long before heart symptoms appear.
For DiCola, those early warning signs began subtly, years before his diagnosis.
The first to appear was neuropathy – specifically, tingling in his fingers and toes.
Worry over whether he’d be able to continue drumming sent him to his primary care doctor to search for answers.
Starting with more common causes, DiCola’s doctor probed the possibilities of a pinched nerve, a back injury and other causes.
An electromyograph (EMG) confirmed neuropathy, but did not explain its cause.
An autoimmune possibility was considered.
Further testing led to a bit of a red herring, albeit a real health concern.
DiCola was diagnosed with a rare lymphoma – a condition that can also cause neuropathy.
A more accurate health picture didn’t truly emerge until blood work revealed spikes in a particular blood protein and a routine cardiac evaluation, which showed an enlarged heart, he said.
Additional imaging and a heart biopsy confirmed what his family history had already hinted at: cardiac amyloidosis.
His brother, John, had died from the disease in 2022.
Early signs
Dr Davies said DiCola’s story is similar to those of many patients who first develop orthopaedic or neurological symptoms years before heart failure emerges.
One of the most common early signs of amyloidosis is carpal tunnel syndrome, which is generally associated with repetitive hand motions or incorrect wrist positioning.
That, Dr Davies said, is not the case with amyloidosis.
In patients with amyloidosis-related carpal tunnel syndrome, he said, the protein deposits directly into ligaments and connective tissue, narrowing spaces in the wrist and compressing nerves.
“So you’ll have real carpal tunnel syndrome” because amyloidosis doesn’t mimic it; it can cause it.
Dr Davies said that other early warning signs of amyloidosis can include spinal stenosis, rotator cuff injuries, hip and knee replacements, peripheral neuropathy, lightheadedness from drops in blood pressure, and irregular heart rhythms such as atrial fibrillation.
“The combination of orthopaedic problems, different types of neuropathy and cardiovascular disease is (a) combo that we frequently see in a lot of our patients as they develop progressive disease.”
Some patients develop symptoms slowly over many years.
Others progress far more rapidly, depending on the type of amyloidosis involved.
Dr Davies said there are roughly 40 identified forms of amyloidosis worldwide, although two account for the vast majority of cases in the US.
DiCola has one of them: hereditary ATTR amyloidosis – a genetic form involving the transthyretin protein.
For those with the hereditary variant, by the time cardiovascular symptoms present, expected life span is about 2.5 to four years, said Dr Davies, adding that it’s a much more quickly progressing prognosis than patients with typical heart failure.
The other most common form, known as AL amyloidosis, is linked to abnormal proteins produced in the bone marrow.
This form can be even more aggressive.
“That one (AL) is really dangerous,” Dr Davies said.
“By the time of presentation, the prognosis is usually less than 13 or 14 months.
“And if somebody presents by the time that they have symptoms of the heart disease, like heart failure, there’s an old paper that shows that they actually will frequently live less than six months, even with the benefit of therapy.”
More treatments available
For decades, physicians had limited tools to diagnose or treat amyloidosis, contributing to its reputation as a devastating disease.
Dr Davies said that began to change in 2019, with the arrival of the first therapies approved by the US Food and Drug Administration (FDA), and newer, non-invasive imaging techniques that made diagnosis easier.
“Now we have three FDA-approved therapies that can stop the progression of disease, potentially improve symptoms, and actually make people live longer and stay out of the hospital,” he said.
DiCola is receiving vutrisiran, a medication approved by the US FDA last year (2025).
It is administered as a quarterly injection and works by dramatically reducing production of the transthyretin protein in the liver.
When patients receive vutrisiran, “about 90% of the protein no longer gets produced”, Dr Davies said.
“When less protein is getting produced, less of it can fall apart and then deposit everywhere in the body and cause progressive symptoms.”
Researchers are also studying a new class of drugs known as “depleters”, designed to not only halt new protein build-up, but to also help the immune system remove existing amyloid deposits from the body, Dr Davies said.
For DiCola, the vutrisiran treatment has, so far, done what doctors hoped: stabilise the disease.
Over the course of the past year (2025), MRIs (magnetic resonance imaging) have detected no significant changes in his condition.
“So, you know, no change is a good thing,” he said.
Despite undergoing regular treatments – including immunotherapy every 90 days for lymphoma and injections for amyloidosis – he has remained active.
“I’ve never felt sick. I’ve never felt limited in any way,” he said, adding that he and his wife, Diane, had just returned from a 1.5 mile (2.4km) walk along the beach in Delaware, where they have a vacation home.
“And I rode my Peloton [stationary bicycle] in the morning too.”
Side effects from the injections have been minimal.
A bit of sluggishness and a passing headache for a day or two, “but it’s not much at all”.
Increasing awareness
Dr Davies said awareness remains one of the biggest challenges in amyloidosis detection, because many patients dismiss symptoms or attribute them to ageing, especially active older adults.
“You can be the 70-year-old that did everything right in life,” he said.
“Blood pressure controlled, never had diabetes, exercise five times a week, and you can be the one that develops carpal tunnel syndrome or spinal stenosis, and a couple years later, you start noticing more shortness of breath.”
Unlike many cardiovascular conditions, lifestyle changes do not appear to prevent amyloidosis.
For families with hereditary forms of the disease, Dr Davies strongly recommends genetic screening, even for relatives without symptoms.
DiCola said his own experience has reinforced that message.
After his diagnosis, family members were encouraged to get tested.
He learned that one sibling carries the gene but has not developed the disease, and one of his daughters also has the gene.
But he remains hopeful for her health: “It doesn’t mean because you have that particular gene, that it will happen.”
He hopes sharing his story will help others recognise early warning signs and push for answers.
“If it can help others or make them more aware of it, if they have a symptom like neuropathy, maybe they’ll look a little further.”
Dr Davies echoed that urgency.
“The earlier we can find people and start them on therapy, by far the better that they’re going to do,” he said.
If found and treated early, those with amyloidosis “have the exact same prognosis as somebody else their same age without this disease”.
He hopes growing awareness among patients and physicians alike will lead to earlier diagnoses and better long-term outcomes.
“We recognise more and more that it’s not a rare condition,” he said.
“If we can get those patients in to see cardiologists and specialists earlier, and start them on these approved therapies with pretty limited side effects, we can make them live longer, better lives.” – By Roberta Burkhart /Pittsburgh Post-Gazette/Tribune News Service
