5 Signs You May Have Amyloidosis-What to Watch For

What is Protein Buildup and How Does it Affect Your Body?

At its core, amyloidosis occurs when abnormal proteins misfold and form deposits in tissues and organs. These proteins, called amyloids, are insoluble and resistant to degradation by the body’s normal processes. Unlike normal proteins that dissolve in water, amyloids accumulate and eventually disrupt the structure and function of affected tissues and organs.

The impact of protein buildup varies depending on where the deposits occur. When amyloids infiltrate the heart, for example, the heart muscle stiffens, making it harder to pump blood efficiently. In the kidneys, protein deposits can impair filtration capabilities, potentially leading to kidney failure. Liver involvement may cause enlargement and functional decline, while nerve damage can result in various neurological symptoms.

Early detection is challenging because symptoms develop gradually and may be attributed to aging or more common conditions. However, understanding the relationship between protein buildup and specific symptoms can help identify amyloidosis before significant organ damage occurs.

How Does Fatigue and Weight Loss Signal Amyloidosis?

Persistent fatigue and unexplained weight loss are often among the first noticeable signs of amyloidosis. These symptoms occur because the body expends additional energy fighting the effects of protein deposits while organs struggle to perform their normal functions.

The fatigue associated with amyloidosis is typically not alleviated by rest and may worsen throughout the day. Many patients describe it as an overwhelming exhaustion that interferes with daily activities and quality of life. This fatigue results from multiple factors, including potential anemia, cardiac involvement, and the body’s immune response to amyloid deposits.

Weight loss often occurs despite normal or even increased food intake. As amyloid proteins accumulate in the digestive system, they can interfere with nutrient absorption or cause feelings of early satiety. Additionally, when the liver is affected, metabolism may be altered, contributing to unexplained weight changes. If you experience persistent fatigue alongside unintentional weight loss of 10 pounds or more over several months, medical evaluation is warranted.

Why Should You Monitor Swelling in Extremities?

Swelling in the legs, ankles, and feet—known medically as edema—is a common sign of amyloidosis, particularly when it affects the heart or kidneys. This swelling occurs because amyloid deposits in these organs impair their ability to maintain proper fluid balance in the body.

When amyloid proteins infiltrate the heart muscle, the heart’s pumping efficiency decreases. This reduction in cardiac output can lead to backward pressure in the venous system, causing fluid to leak into surrounding tissues, especially in the lower extremities. Similarly, when the kidneys are affected, their ability to filter waste and regulate fluid balance becomes compromised, resulting in fluid retention throughout the body.

The edema associated with amyloidosis typically worsens throughout the day and may temporarily improve with elevation or overnight rest. It’s often bilateral (affecting both sides equally) and may be accompanied by a feeling of tightness or heaviness. If you notice persistent swelling that doesn’t resolve with rest or elevation, particularly if it’s accompanied by shortness of breath or fatigue, consult a healthcare provider promptly.

What Does Numbness and Tingling Tell Us?

Numbness, tingling, and burning sensations in the hands and feet are significant indicators of potential nerve involvement in amyloidosis. This condition, called peripheral neuropathy, occurs when amyloid proteins deposit in peripheral nerves, disrupting their normal function and transmission of signals.

The sensory symptoms typically begin in the feet and progress upward in a “stocking-and-glove” distribution, eventually affecting the hands as well. Many patients describe unusual sensations such as pins and needles, burning pain, or extreme sensitivity to touch. Some may lose the ability to sense temperature properly or develop weakness in the affected limbs.

Autonomic neuropathy—damage to nerves controlling involuntary bodily functions—can also occur in amyloidosis. This may manifest as dizziness upon standing, digestive disturbances, sexual dysfunction, or abnormal sweating patterns. The combination of peripheral and autonomic neuropathy symptoms, especially when they progress relatively quickly over months rather than years, should prompt evaluation for amyloidosis among other possible causes.

What Treatment Options Are Available?

Treatment for amyloidosis has evolved significantly in recent years, offering improved outcomes for many patients. The approach depends on the type of amyloidosis, the organs involved, and the overall health status of the individual.

For AL amyloidosis (the most common type), treatments aim to stop the production of abnormal light chain proteins by targeting the plasma cells responsible. Standard approaches include:

1. Chemotherapy medications similar to those used in multiple myeloma

2. Autologous stem cell transplantation for eligible patients

3. Proteasome inhibitors that interfere with cancer cell function

4. Immunomodulatory drugs that modify immune system responses

5. Monoclonal antibodies targeting specific proteins

For ATTR amyloidosis, newer treatments have emerged that can stabilize the disease or even remove amyloid deposits:

1. Transthyretin stabilizers that prevent protein misfolding

2. RNA-targeting therapies that reduce production of the problematic protein

3. Experimental treatments aimed at clearing existing amyloid deposits

Supportive care remains essential across all types of amyloidosis and may include medications to manage symptoms, dietary modifications, and treatments for affected organ systems. For instance, heart failure medications for cardiac amyloidosis or dialysis for advanced kidney involvement.

Early diagnosis and treatment are crucial for improving prognosis and quality of life. With advances in targeted therapies, many patients are experiencing better outcomes than ever before, making awareness of early symptoms increasingly important for timely intervention.

This article is for informational purposes only and should not be considered medical advice. Please consult a qualified healthcare professional for personalized guidance and treatment.