Medically reviewed and verified by Kate Burke, MD, MHA
Estimated reading time: 7 minutes
Amyloidosis is a rare but serious medical condition. Abnormal proteins called amyloids buildup in tissues and organs throughout the body. As these amyloids build up, they can interfere with normal organ function, leading to a range of symptoms. Part of the challenge of diagnosing and treating this condition is that the symptoms can vary dramatically. Depending on where these proteins accumulate, they will affect the body in different ways.
While amyloidosis can affect different organs and systems, there are some common symptoms to be aware of. Here, PatientsLikeMe will break down six you should be aware of.
Common Amyloidosis Symptoms
Fatigue
One of the earliest, and often overlooked, symptoms of amyloidosis is fatigue and weakness. People with amyloidosis may experience a persistent sense of tiredness, even after adequate rest. This is what's known as fatigue. Unlike normal tiredness, it is not caused by activity, and not relieved by sleep. This can be debilitating for many people who experience it. Over time, fatigue can impact your physical, emotional, and mental well-being.
Why does this happen? There are several ways amyloidosis can cause fatigue. Often, it is the treatment for the disease that can lead to the symptoms. Chemotherapy is a common treatment course for AL amyloidosis. Chemotherapy can also cause anemia, which is the decrease in the number of red blood cells in the body. This leads to less oxygen, and feelings of fatigue.
To manage these symptoms effectively, the first step is to work closely with your doctor. They can help identify and address potential underlying causes. People are often encouraged to prioritize adequate rest and establish consistent sleep routines. A well-balanced diet with foods rich in iron and vitamins can also help combat fatigue.
Swelling
If amyloidosis starts to affect the kidneys, their ability to filter blood is impaired. When this happens, protein starts to leak out of the blood vessels. This leads to a buildup of fluid or swelling in various parts of the body. It can happen in the belly, legs, ankles or feet.
Management strategies involve elevating the legs to alleviate swelling, wearing compression stockings as recommended by healthcare providers, and monitoring sodium intake to prevent fluid retention.
Weight Loss
Unexplained weight loss can be a sign of amyloidosis. There are a few ways this can come about. The first is if the condition is affecting the protein in your blood, similar to what leads to swelling. If protein leaks out of the blood, you may find yourself losing your appetite. Amyloidosis can also interfere with the body's ability to absorb nutrients, leading to unintentional weight loss. By affecting the digestive system, it is not uncommon for people to lose 20-25 pounds.
Effective management includes maintaining a well-balanced, nutrient-rich diet under the guidance of a registered dietitian. You should also regularly monitor weight changes and consider nutritional supplements if needed.
Cardiac Issues
Cardiac amyloidosis happens when the condition affects the heart. The misshaped proteins get stuck in and around different areas of the heart. When this buildup happens, it is harder for your heart to pump blood. The tissues become stiff, which can lead to abnormal heartbeats and failure. Amyloidosis can also affect how electrical signals move throughout the heart. Shortness of breath, irregular heartbeats, and swelling in the abdomen due to fluid accumulation (ascites) are common indicators. Some people also see excessive urination, trouble breathing when lying down, and fatigue manifest. In severe cases, amyloidosis can result in heart failure.
Often the first step in managing cardiac amyloidosis is with changes to diet. This can include limiting salts and fluids or taking water pills (diuretics) to help your body get rid of excess fluid. There are a number of medicines that a doctor can prescribe.
Bruising and Rashes
Cutaneous amyloidosis comes about when proteins start to build up in the skin. There are a few ways this can present. Most often this happens on the upper limbs, back and head. Red to dark brown rashes, papules (which are essentially pimples), or thick and irritated skin tend to form. These are also often accompanied by intense itching.
There are three main forms of cutaneous amyloidosis.
- Lichen amyloidosis is characterized by itchy, raised spots that typically affect the shins, thighs, feet and forearms.
- Macular amyloidosis leads to flat, itchy, brown or greyish spots that form patches of darkened skin. This usually appears on the upper back between the shoulder blades, the best, and less commonly the arms.
- Nodular amyloidosis has firm bumps that are pinkish brown to red in color. It shows up on the body, limbs, face or genitals.
As of now, there are a limited number of treatments. Skin conditions can always be managed through topical treatments, such as corticosteroids or retinoids. Doctors may also prescribe antipruritic medications or calcineurin inhibitors. Oral medications help, and physical treatment such as phototherapy or laser-therapy may be necessary depending on the severity.
Numbness and Tingling
In certain types of amyloidosis, the nervous system may be affected. Nerves have a protective layer, called the myelin sheath, that shields them from damage. When this layer is worn down, nerves start to misfire or stop working altogether. Depending on where in the body the affected nerve sits, different symptoms can start to present. Amyloids, the harmful proteins, can build up in the nerves themselves, in blood vessels that supply the nerves, or in nearby tissues. This leads to three different effects.
Neuropathic effects are when there is damage to the nerves carrying signals from your extremities to your brain. This leads to symptoms like pain in the hands and feet, muscle weakness, difficulty walking and falls. Musculoskeletal damage can lead to things like carpal tunnel, back pain, shoulder, knee and hip pain, and joint stiffness. Finally, when there is damage to the autonomic nerves, which help control all bodily functions, serious health conditions can arise. These include hypotension, chronic diarrhea or constipation, significant weight loss, erectile dysfunction and incontinence.
When treating the damage to the nervous system caused by amyloidosis, there are a few options. Doctors can either target the underlying disease or treat the symptoms themselves. Treating amyloidosis requires either chemotherapy, a steroid regimen, or stem cell transplants. Symptom management depends on how the disease manifests. That can be prescription medicine like gabapentin, topical treatments, OTC medications like lidocaine, or alternative therapies.
Managing Amyloidosis With Support
Recognizing these symptoms is crucial for early diagnosis and effective management of amyloidosis. If you or someone you know is experiencing these, seeking medical attention quickly is essential. A healthcare professional can conduct the necessary tests and evaluations to diagnose amyloidosis and develop an appropriate treatment plan. Early intervention can significantly improve outcomes and enhance the quality of life for anyone living with amyloidosis.
Seize control of your health with PatientsLikeMe, a platform designed to support your wellness journey. Join a community of people who share their experiences and insights, helping you navigate your health challenges with confidence. Use PatientsLikeMe's tools to track your symptoms, treatments, and outcomes for the full picture of your wellness journey to make informed decisions and effectively communicate with your healthcare team. Evaluate the effectiveness of various treatments through comprehensive patient data, guiding you to the best choices for your health. Creating an account is free! Join today.