You’ve been tired for months. Maybe you’ve had carpal tunnel surgery, neuropathy, some back pain, or shortness of breath. Each problem had its own explanation and its own specialist. 

But what if all of those symptoms had a single cause?

Amyloidosis, a condition caused by abnormal protein buildup in the body, went largely undetected for decades. That’s starting to change.

What is amyloidosis?

Amyloidosis occurs when a protein called amyloid builds up in the body’s organs and tissues. When it collects in the heart, it causes the heart walls to thicken and stiffen, making it harder for the heart to pump blood. 

The most common form is called ATTR (transthyretin) amyloidosis – and it’s more common than doctors once thought.

“As we’ve developed better treatments, we’ve looked to see how common it is, and we found many more patients have cardiac amyloid than we expected,” says Marshall Hyden, MD, advanced heart failure and transplant cardiologist.

Around 8 million people in the U.S. have heart failure, and up to 10% of them are thought to have amyloidosis.

Symptoms to watch for

Amyloidosis can be tricky to diagnose because its symptoms look a lot like other conditions. Heart-related symptoms include shortness of breath, fatigue, and bloating. 

But amyloid protein doesn’t stay in the heart. It can build up throughout the body, causing:

• Carpal tunnel syndrome
• Back pain
• Nerve problems
• Digestive issues
• Kidney failure

One red flag for amyloidosis is carpal tunnel syndrome in both wrists.

“If you need carpal tunnel surgery on both wrists and you’re not a typist, that’s a clue,” Dr. Hyden says. “If you have heart failure also, there’s a good chance you have cardiac amyloid.”

On average, it takes about seven years from the time a patient develops symptoms to when amyloidosis is finally diagnosed.

When to ask your doctor

If you are over the age of 60 and have some of the following symptoms, ask your doctor whether it might be amyloidosis:

• Carpal tunnel syndrome
• Neuropathy
• A diagnosis of heart failure
• Shortness of breath
• Fatigue
• Back pain
• Swelling or bloating

How it’s diagnosed

Specialized imaging tests are used to detect amyloid protein in the heart. In some cases, a biopsy confirms the diagnosis.

The Nebraska Medicine hand and wrist team is now screening patients who undergo carpal tunnel surgery on both wrists by taking a small tissue sample during the procedure. If amyloid is found, those patients are referred for further cardiac evaluation. 

Because amyloidosis can run in families, all patients diagnosed with ATTR undergo genetic testing so that family members can be screened as well.

Treatment options

The good news is that effective treatments are available.  

Stabilizer medications, taken as a pill once or twice a day, help prevent the amyloid protein from causing further damage. Silencer medications, given by injection four to 12 times per year, reduce the body’s production of the protein.

These treatments can be costly, but financial assistance programs can help make them affordable for many patients. 

“I’d advise patients to come to the evaluation without being worried about the cost,” Dr. Hyden says. “There are avenues to help with that.”

Starting treatment early matters. 

“This is a progressive disease,” Dr. Hyden says. “The treatment slows it down – it doesn’t fix it. If you wait until you’re sicker, that’s as good as you’re going to get.”