1. What Is Amyloidosis?

Amyloidosis is a disorder in which abnormal proteins called amyloids build up in organs and tissues, interfering with their normal function. These amyloids are misfolded proteins that the body can’t properly clear, leading to organ damage over time.

There are several types of amyloidosis, including:

AL (Light Chain) Amyloidosis – most common, affects the heart, kidneys, liver

ATTR Amyloidosis – genetic or age-related, often affects nerves and heart

AA Amyloidosis – linked to chronic inflammation

Because symptoms vary based on which organs are affected, early signs can be subtle and easily dismissed.

2. Why Early Detection Matters

Amyloidosis can be progressive and fatal if untreated. Early diagnosis allows for timely intervention, slowing or halting damage to vital organs like the heart, kidneys, and nervous system.

3. Early Signs and Symptoms To Watch For

Here are the most common early signs that could indicate amyloidosis:

🔹 1. Unexplained Fatigue or Weakness

One of the first symptoms people notice is a deep, persistent tiredness, even after a full night’s rest.

🧠 Why it matters: Amyloids disrupt organ function—especially in the heart and kidneys—reducing oxygen flow and energy production.

🔹 2. Swelling in Ankles, Legs, or Around the Eyes

This fluid retention may appear as puffy eyelids in the morning or tight socks by the afternoon.

🧠 Why it matters: This often signals kidney or heart involvement, where the organs can’t regulate fluids properly.

🔹 3. Shortness of Breath (Especially with Mild Activity)

Even walking up stairs or carrying groceries may feel exhausting.

🧠 Why it matters: Cardiac amyloidosis leads to stiff heart muscles, reducing the heart’s ability to pump blood effectively.

🔹 4. Irregular Heartbeat or Chest Pressure

Some patients experience heart palpitations or dull pressure in the chest—not just sharp pain.

🧠 Why it matters: The buildup of amyloid proteins in heart tissue causes cardiomyopathy, impairing heart rhythm and function.

🔹 5. Numbness or Tingling in Hands and Feet

Called peripheral neuropathy, this symptom is especially common in hereditary or age-related ATTR amyloidosis.

🧠 Why it matters: Amyloids accumulate around nerves, affecting sensation and motor control.

🔹 6. Easy Bruising or Purplish Spots Around Eyes

Some people develop “raccoon eyes”—a hallmark sign in AL amyloidosis, even without trauma.

🧠 Why it matters: Abnormal proteins can affect blood vessels and reduce clotting factors, making bruising more frequent.

🔹 7. Unexplained Weight Loss or Loss of Appetite

This is often overlooked or blamed on stress or aging.

🧠 Why it matters: Digestive tract involvement can lead to malabsorption, diarrhea, or appetite changes.

🔹 8. Difficulty Swallowing or Hoarseness

This can feel like food gets “stuck” in the throat or an ongoing sore throat.

🧠 Why it matters: Amyloid deposits may interfere with muscles in the esophagus or vocal cords.

4. Other Less Common But Serious Symptoms

Depending on the type of amyloidosis, other red flags include:

Foamy urine (kidney damage)

Severe diarrhea or constipation

Enlarged tongue (macroglossia)

Skin thickening or easy tearing

Carpal tunnel syndrome in both hands

Low blood pressure or dizziness when standing (autonomic neuropathy)

5. Who’s Most at Risk?

Certain groups are more vulnerable:

Adults over 60

Those with chronic inflammatory diseases

People with multiple myeloma or other plasma cell disorders

Those with a family history of ATTR amyloidosis

If you fall into any of these groups and notice the symptoms listed, it’s worth discussing amyloidosis testing with your doctor.

6. How Is Amyloidosis Diagnosed?

Diagnosis can be tricky and may require:

Blood and urine tests (to detect abnormal proteins)

Biopsy of affected tissue

Imaging (echocardiogram, MRI) to check for organ damage

Genetic testing for hereditary ATTR

Because symptoms mimic so many other conditions, a specialist—often a hematologist or cardiologist—may be needed.

7. Treatment Options for Amyloidosis

While there’s no universal cure, treatment depends on the type:

AL Amyloidosis: Chemotherapy-like regimens to stop abnormal protein production

ATTR Amyloidosis: Medications like tafamidis (Vyndamax) or patisiran (Onpattro)

AA Amyloidosis: Treating the underlying inflammation or infection

Organ-specific care (dialysis, heart meds, or even transplant in severe cases)