What Is Amyloidosis and What Does It Do to the Body?

What are the early signs and symptoms of amyloidosis?

The early signs and symptoms of amyloidosis can be subtle and often mimic other conditions, making diagnosis challenging. Common early symptoms include unexplained fatigue, shortness of breath, and swelling in the ankles and legs. Many patients experience unintentional weight loss, numbness or tingling in their hands and feet, and skin changes such as easy bruising or purplish patches around the eyes.

Heart-related symptoms may include irregular heartbeat, chest pain, and difficulty breathing during physical activity. Kidney involvement often presents as foamy urine due to protein loss, while gastrointestinal symptoms can include diarrhea, constipation, or feeling full quickly after eating small amounts. Since these symptoms can develop gradually over months or years, they are often attributed to aging or other common health conditions, leading to delayed diagnosis.

What causes amyloidosis?

Amyloidosis develops when proteins in the body fold incorrectly and form amyloid deposits. There are several types of amyloidosis, each with different underlying causes. Primary amyloidosis, also known as AL amyloidosis, occurs when plasma cells in the bone marrow produce abnormal antibody proteins. This type is not inherited and typically affects adults over 40 years old.

Secondary amyloidosis, or AA amyloidosis, results from chronic inflammatory diseases such as rheumatoid arthritis, inflammatory bowel disease, or chronic infections like tuberculosis. Hereditary amyloidosis is caused by genetic mutations passed down through families, affecting the production of certain proteins like transthyretin. Age-related amyloidosis occurs when normal proteins become unstable with aging, commonly affecting the heart in elderly individuals.

How does amyloidosis affect different organs in the body?

Amyloidosis can affect virtually any organ system, with symptoms varying based on the location and extent of amyloid deposits. When amyloids accumulate in the heart, they can cause the heart walls to thicken and become stiff, leading to heart failure, irregular rhythms, and reduced pumping efficiency. This cardiac involvement is often the most life-threatening aspect of the disease.

Kidney involvement typically results in proteinuria, where large amounts of protein are lost in the urine, potentially progressing to kidney failure requiring dialysis. Liver deposits may cause hepatomegaly and elevated liver enzymes, while nervous system involvement can lead to peripheral neuropathy, carpal tunnel syndrome, or autonomic dysfunction affecting blood pressure regulation and digestion. Gastrointestinal deposits can cause malabsorption, bleeding, or bowel obstruction, significantly impacting nutrition and quality of life.

What diagnostic methods are used to identify amyloidosis?

Diagnosing amyloidosis requires a combination of clinical evaluation, laboratory tests, imaging studies, and tissue biopsies. Blood and urine tests can detect abnormal proteins and assess organ function, particularly kidney and liver involvement. Specialized tests like serum free light chains and immunofixation electrophoresis help identify the specific type of amyloidosis.

Imaging studies play a crucial role in diagnosis and monitoring. Echocardiograms can reveal characteristic heart changes, while cardiac MRI provides detailed information about heart structure and function. Nuclear medicine scans using technetium-labeled compounds can detect amyloid deposits in the heart and other organs. However, definitive diagnosis typically requires a tissue biopsy, most commonly from abdominal fat, bone marrow, or the affected organ, where amyloid deposits can be identified using special staining techniques under microscopic examination.

What treatment options are available for amyloidosis?

Treatment approaches for amyloidosis vary significantly depending on the type and extent of organ involvement. For AL amyloidosis, treatment focuses on suppressing the abnormal plasma cells producing amyloid proteins. Chemotherapy regimens similar to those used for multiple myeloma are commonly employed, including combinations of melphalan, dexamethasone, and newer agents like bortezomib and lenalidomide.

Autologous stem cell transplantation may be considered for eligible patients with AL amyloidosis, though careful patient selection is crucial due to the high-risk nature of the procedure in this population. For hereditary amyloidosis affecting transthyretin, liver transplantation can be curative since the liver produces the abnormal protein. Recently approved medications like tafamidis help stabilize the transthyretin protein and slow disease progression. Supportive care measures include managing heart failure, controlling blood pressure, maintaining nutrition, and addressing complications like neuropathy through physical therapy and pain management strategies.

Treatment for amyloidosis typically involves a multidisciplinary approach with specialists in hematology, cardiology, nephrology, and other relevant fields working together to provide comprehensive care. Regular monitoring is essential to assess treatment response and manage potential side effects of therapy.

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.