AL Amyloidosis: Understanding Symptoms, Causes & Treatment

Understanding AL Amyloidosis

AL amyloidosis, formerly known as primary amyloidosis, is a rare disease that occurs when abnormal proteins called amyloid build up in tissues and organs. This can lead to organ damage and potential organ failure if left untreated. Understanding the signs, symptoms, causes and treatment options for AL amyloidosis is key for improving patient outcomes.

What Causes AL Amyloidosis?

AL amyloidosis is caused by issues in the bone marrow. Specifically, it happens when some bone marrow cells do not function properly and produce abnormal antibodies called light chains. These malformed proteins are unable to be broken down and eliminated from the body, so they accumulate as amyloids.

The amyloid proteins clump together and are deposited in tissues and organs. As more and more amyloids build up, they start to interfere with the structure and function of organs. Over time, this can lead to organ damage and failure.

Who Is at Risk?

AL amyloidosis is considered very rare, occurring in only 1 to 2 cases per 100,000 people. It can affect both men and women typically over the age of 60. Those at higher risk include:

• People over 65 years old
• Men more than women
• Those with plasma cell disorders like multiple myeloma
• People with a family history of AL amyloidosis

Signs and Symptoms

The signs and symptoms of AL amyloidosis reflect the organs and tissues where amyloid proteins are deposited. Some people experience no symptoms in early stages while others progress rapidly. Common symptoms include:

• Fatigue, weakness and weight loss
• Swelling in legs or feet (edema)
• Bruising or bleeding easily
• Numbness, tingling or pain in hands and feet (peripheral neuropathy)
• Shortness of breath with activity
• Diarrhea and unintended weight loss
• Enlarged tongue (macroglossia)

Complications

As AL amyloidosis progresses, it can cause extensive damage to organs and tissues leading to potentially serious complications such as:

• Heart failure - Amyloid deposits can stiffen the heart muscle leading to restrictive cardiomyopathy and heart failure.
• Kidney failure - Amyloid proteins building up in the kidneys (nephrotic syndrome) impairs their ability to function properly.
• Nerve damage - Amyloid deposits can cause peripheral neuropathy leading to pain, tingling and numbness in hands and feet.
• Carpal tunnel syndrome - Amyloid buildup can exert pressure on the median nerve leading to hand and wrist pain.
• Intestinal issues - Gastrointestinal symptoms like diarrhea, nausea, vomiting, and bleeding stem from amyloid in the gut.
• Respiratory problems - Shortness of breath and restrictive lung disease occurs as amyloid accumulates in lung tissue.

Diagnosing AL Amyloidosis

AL amyloidosis can be difficult to diagnose because symptoms are vague and mimic many other common conditions. Doctors utilize a variety of tests to confirm a diagnosis:

Lab Tests

Initial testing involves blood and urine tests to check for protein abnormalities that may indicate amyloid deposits. These include:

• Serum protein electrophoresis
• Urine protein electrophoresis
• Free light chain assay

If these tests detect abnormal proteins, it warrants more specific testing for AL amyloidosis.

Biopsy

The standard for confirming AL amyloidosis is a biopsy of the affected organ. Doctors most often sample abdominal fat because it frequently contains amyloid proteins. The biopsy shows amyloid deposits in tissues when viewed under a microscope.

Imaging Tests

Other tests that help visualize the location and extent of amyloid buildup include:

• Echocardiogram - Views heart structure and function
• MRI - Provides whole body imaging
• CT scan - Visualizes organs and soft tissues
• Ultrasound - Images organs and identifies organ enlargement

Bone Marrow Test

Examining bone marrow cells can reveal abnormal plasma cells producing amyloid proteins. This helps doctors gauge the extent of the disease.

Treatment Options for AL Amyloidosis

Early diagnosis and prompt treatment is key for preserving organ function in AL amyloidosis. The main treatment goals focus on:

1. Eliminating abnormal amyloid-forming bone marrow cells
2. Halting production of amyloid proteins
3. Managing symptoms and supporting organ function

Medications

Medications used in AL amyloidosis treatment include:

• Chemotherapy - Powerful drugs destroy troublesome plasma cells in the bone marrow.
• Corticosteroids - Steroids also target bone marrow cells and suppress immune function.
• Targeted therapy drugs - Newer drugs precisely identify and attack cancer cells while causing less harm to healthy cells.

Stem Cell Transplant

In some cases, a stem cell transplant can eliminate and replace diseased bone marrow cells. This intensive treatment has risks but offers the potential for long-term remission or cure.

Organ Transplants

When AL amyloidosis leads to severe organ failure, transplants can be life-saving. Kidney, heart or liver transplants may be options for appropriate candidates.

Supportive Therapies

Other therapies focus on maintaining day-to-day health and quality of life:

• Dietary changes - A nutritious diet helps optimize health, energy and strength.
• Pain management - OTC or prescription medications treat neuropathy and bone pain.
• Physical therapy - Stretching, strengthening exercises prevent disability from muscle and nerve impairment.

Outlook for AL Amyloidosis

In the past, AL amyloidosis carried a very poor outlook due to its rapid, progressive damage to vital organs. Today, earlier diagnosis and advanced treatments allow many patients to enjoy prolonged survival and remission.

Without treatment, survival is less than 1 year after diagnosis. However, effective therapy now extends median survival to 5 years or longer for patients able to tolerate intensive regimens.

Close follow-up care is necessary to monitor for disease recurrence. Newer precision treatments continue to improve long-term outlook for AL amyloidosis patients.

Disclaimer: This article is for informational purposes only and does not constitute medical advice. Always consult with a healthcare professional before starting any new treatment regimen.