What Is Amyloidosis?

Amyloidosis is a rare but serious medical condition that occurs when abnormal proteins—known as amyloids—accumulate in the body’s organs and tissues. These proteins aren’t supposed to be there. They’re misfolded and insoluble, meaning they can’t be easily broken down or removed. As these amyloid proteins build up over time, they disrupt normal organ function—often silently and without warning.

Unlike common conditions that present early and clearly, amyloidosis often remains undiagnosed for years. It’s not due to neglect, but because its symptoms closely resemble more familiar issues like heart failure, kidney problems, or even basic aging. That’s what makes awareness and early detection so important.

The Symptoms: Often Confused, Rarely Linked

Amyloidosis doesn’t follow a single path. Because it can affect almost any organ system—including the heart, kidneys, liver, nervous system, and digestive tract—it produces a broad spectrum of symptoms, many of which are vague on their own but concerning when combined.

Common signs to watch for include:

Persistent fatigue and overall weakness

Unexplained and progressive weight loss

Swelling in the legs, ankles, or feet (edema)

Shortness of breath or difficulty breathing during minimal exertion

Irregular heartbeat, palpitations, or fainting spells

Numbness, tingling, or a burning sensation in the hands or feet (neuropathy)

Bruising easily or a distinctive purplish discoloration around the eyes (“raccoon eyes”)

An enlarged tongue (macroglossia) or difficulty swallowing

Joint pain or stiffness without clear cause

Changes in bowel habits, such as chronic diarrhea or constipation

These symptoms often don’t appear all at once, which makes them even easier to ignore or misattribute. However, if several of them begin to appear in combination—especially in someone with known risk factors—it’s time to investigate further.

Who Is at Risk of Developing Amyloidosis?

Amyloidosis is considered rare, but that doesn't mean it's out of reach. Certain populations are more susceptible:

Age: Most diagnoses occur in individuals over the age of 60.

Chronic Inflammatory Conditions: Diseases like rheumatoid arthritis or inflammatory bowel disease can raise your risk.

Kidney Dialysis Patients: Long-term dialysis can lead to accumulation of beta-2 microglobulin, contributing to a specific form of amyloidosis.

Family History: Certain hereditary types of amyloidosis are passed through genes and may manifest earlier.

Male Gender: Men are slightly more likely to develop some types of amyloidosis, particularly AL amyloidosis.

Understanding these risk factors can shorten the time to diagnosis, which is critical. Left untreated, amyloidosis can progress quickly and become life-threatening.

Diagnosis: Connecting the Dots

Because amyloidosis is uncommon and its symptoms are non-specific, getting a diagnosis can be a journey. Many patients see multiple specialists over several years before receiving a definitive answer.

Common diagnostic steps include:

Blood and urine tests to detect abnormal proteins

Electrocardiograms or echocardiograms to assess cardiac function

Imaging scans, such as MRIs or CTs, to evaluate organ involvement

Tissue biopsies, which can confirm amyloid deposits in affected areas

Genetic testing, especially when a hereditary form is suspected

Early referral to a specialist, such as a hematologist, cardiologist, or nephrologist, is often required to put the puzzle together.

Treatment: A Moving Target with New Hope

The type of amyloidosis—such as AL (light-chain), ATTR (transthyretin), or AA (secondary)—determines the best course of treatment. Fortunately, advances in medicine are making care more effective and more personalized.

Common treatments include:

Chemotherapy or immunotherapy, especially in AL amyloidosis where misfolded proteins are produced by abnormal plasma cells

Targeted therapy, such as tafamidis or patisiran for ATTR amyloidosis, which stabilizes or silences the misfolded protein

Stem cell transplantation, for eligible patients with systemic AL

Organ support, such as diuretics, blood pressure management, or dialysis

Experimental treatments, many of which are showing promise in clinical trials

While there is no universal cure yet, many patients can experience years of improved function and quality of life with early and appropriate intervention.

When to Talk to Your Doctor

If you—or a loved one—have experienced a combination of the symptoms listed above and are in a higher-risk group, don’t wait. Bring it up with your healthcare provider. Be specific. Describe all your symptoms, even ones you think might be unrelated. Mention amyloidosis by name. It may help your doctor consider diagnostic tests they wouldn’t otherwise order.

Amyloidosis is rare, but not invisible—especially when you know what to look for.