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AL Amyloidosis

What is AL Amyloidosis?

Amyloid Light Chain (AL) Amyloidosis is a form of amyloidosis. Amyloidosis is a rare, severe, and progressive disease characterized by the accumulation of abnormal, misshaped protein deposits – known as amyloid or amyloid fibrils, in tissues and organs throughout the body. The buildup of amyloid replaces healthy tissue and can disrupt proper organ function, leading to a wide range of symptoms and complications. When amyloid accumulates in the heart muscle, this is referred to as cardiac amyloidosis, a specific type of cardiomyopathy. AL amyloidosis is one of the two major causes of cardiac amyloidosis, the other being transthyretin (ATTR) amyloidosis.

In AL amyloidosis, the plasma cells in your bone marrow change or mutate, producing an excess of abnormal twisted, misshaped proteins called amyloid light chain. These misshaped proteins clump together as amyloid deposits in your organs and tissues. AL amyloidosis most often affects the heart and kidneys, but it can also impact other organs such as the stomach, intestines, liver, skin, tongue, and peripheral nerves.

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Plasma cells in the bone marrow change and produce abnormal twisted proteins called amyloid light chain

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These misshaped proteins clump together as amyloid fibrils and circulate in the bloodstream

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Amyloid fibrils deposit in organs and tissues, affecting the heart, kidneys, stomach, intestines, liver, skin, tongue, and nerves

In AL amyloidosis, the most severe damage occurs in the heart, affecting approximately 70% of patients.

Key Definitions

Amyloid is an abnormal protein that forms when proteins in the body become damaged, abnormally shaped (misfolded) and accumulate in various tissues and organs. This can lead to potential disease development.

Amyloidosis is the term used to describe the group of diseases characterized by the abnormal deposition of amyloid protein in tissues and organs.

Cardiac amyloidosis refers to the condition where amyloid protein deposits are found in the heart muscle. This is a type of restrictive cardiomyopathy.

Plasma cells, derived in the bone marrow from white blood cells known as B-lymphocytes, are capable of producing large amounts of immunoglobulins (antibodies). They play a crucial role in the acquired immune response. If the abnormally change or mutate, this can lead to AL amyloidosis.

Light chains are components of immunoglobulins (antibodies), which are crucial for our immune system. They are produced by plasma cells in the bone marrow. Abnormal misshapen light chains are seen in AL amyloidosis.

WHAT WE KNOW ABOUT AL AMYLOIDOSIS

The exact cause of AL amyloidosis is unknown, but it involves the production of abnormal light chain proteins by plasma cells. There are no specific risk factors presently identified, but we do know that:

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The average age at diagnosis is 65

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It is more common in men than women

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It is not hereditary

MULTIPLE MYELOMA

About 10 to 15% of patients who have been diagnosed with multiple myeloma (a blood cancer) will also be diagnosed with AL amyloidosis. Both of these diseases stem from disordered plasma cells inside the bone marrow.

SIGNS AND SYMPTOMS

Symptoms of AL amyloidosis can vary depending on the organs affected. The heart, kidneys, stomach, intestines, liver, skin, tongue, and peripheral nerves are commonly impacted organs.

Many times, the symptoms resemble other less serious illnesses. They also develop slowly, which means you might not notice changes in your body right away.

Symptoms that may indicate heart problems:

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Heart palpitations

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Shortness of breath or difficulty breathing, especially on exertion

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Chest pain

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Fatigue and weakness

Symptoms that may indicate kidney or bladder problems:

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More bubbles in your urine than usual

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Urinating less frequently or needing to get up at night to urinate

Symptoms that may indicate stomach or intestinal problems:

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Loss of appetite

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Weight loss

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Bloating

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Constipation

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Diarrhea

Other symptoms:

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Light-headedness, dizziness or fainting, especially when standing up

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A purple-coloured rash around your eyes or on your eyelids

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An enlarged tongue

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Numbness, burning, or tingling sensations the hands and feet

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Tingling and numbness in your fingers, which may suggest carpal tunnel syndrome

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Swelling in the legs and ankles

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Weak legs

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Easy bruising or bleeding, or purple-coloured folds in your skin

HOW IS AL AMYLOIDOSIS DIAGNOSED?

Since most symptoms of AL amyloidosis are nonspecific, an accurate diagnosis requires a thorough evaluation. Your healthcare provider may perform several examinations to:

  1. Confirm suspicion of amyloidosis: Initial suspicion prompts specific diagnostic tests.
  2. Identify amyloid type: Tests determine the type of amyloid fibrils, distinguishing AL amyloidosis from other types.
  3. Assess organ involvement: Identify which organs are affected and the extent of the involvement.

The diagnostic process might include:

  • Physical examination
  • Detailed medical history
  • Blood tests
  • Urine tests
  • Echocardiogram (Echo)
  • MRI
  • CT scans
  • Cardiac magnetic resonance (CMR) scan
  • Biomarker testing
  • Biopsy (tissue samples from affected organs to confirm the presence of amyloid deposits)

TREATING AND MANAGING AL AMYLOIDOSIS

Your doctor will determine the best treatment plan based on the extent of the disease and the type and number of organs affected.

This is the primary treatment for AL amyloidosis, aiming to inhibit the growth of plasma cells that produce the abnormal proteins, thus decreasing its levels. It can be administered orally or via infusion. The most common initial chemotherapy regimen includes the drug combination (often referred to as CyBorD) of:

  • Cyclophosphamide
  • Bortezomib
  • Dexamethasone

Immunotherapy involves treatment with antibodies targeting plasma cells to further reduce their number.

Daratumumab is an immunotherapy drug known as monoclonal antibody. It attaches to a protein on abnormal plasma cells causing their destruction. This medication, in combination with the CyBorD chemotherapy discussed above, has been approved for treatment of newly diagnosed AL amyloidosis. This combination, commonly called Dara-CyBorD, has shown high efficacy and encouraging response, with a significant percentage of patients achieving very good partial response or better.

This treatment involves intensive chemotherapy to destroy all bone marrow cells, including both abnormal plasma cells and normal bone marrow cells. Healthy blood stem cells, previously collected from your body, are then reintroduced to help restore the bone marrow. This method has a more significant and lasting effect compared to chemotherapy alone, however it is suitable for only about 20% of AL amyloidosis patients due to the high risks, especially for those with heart problems.

Given the diverse ways in which AL amyloidosis can manifest, supportive care plays a crucial role in managing the range of symptoms you might experience. The treatment plans will target the affected organs – for example, those with cardiovascular involvement may include:

  • Diuretic Agents, β-blockers, and ACE Inhibitors: Commonly used to prevent heart failure, although they may not be suitable for all patients, particularly those with advanced cardiomyopathy.
  • Managing Hypotension (abnormally low blood pressure) and Autonomic Neuropathy: Orthostatic hypotension is when blood pressure drops too much when standing up, leading to dizziness or fainting. This often happens because of autonomic neuropathy, a condition where nerve damage affects automatic bodily functions like blood pressure control. To manage this, doctors may recommend wearing compression garments and taking medications like midodrine or droxidopa to help stabilize blood pressure. Although fludrocortisone can also be used, it frequently causes fluid retention and is not always well tolerated.

As the AL amyloidosis space is rapidly evolving, new treatments may be on the horizon. Therefore, discuss with your healthcare provider about clinical trials and research opportunities that explore these emerging treatment options.

LIFESTYLE – LIVING WITH AL AMYLOIDOSIS

Managing AL amyloidosis involves a holistic approach to your health. It is important to address certain elements that play a crucial role in maintaining your overall well-being and helping you navigate the challenges of the disease.

Some treatments can impact your appetite. If you are experiencing this, talk to your healthcare provider about healthy eating strategies to help maintain your strength throughout your treatment.

Make sure to get adequate rest to support your overall well-being. Quality sleep is crucial for your body to recover and manage the effects of treatment

Incorporating exercise into your routine can help improve your mood and maintain a healthy weight. Consult your provider for recommendations on safe exercises that will not put undue stress on your body.

Maintain connections with supportive individuals in your life and seek out peers who share similar experiences. Building an emotional support network is crucial for staying motivated and focused on your health goals. Share your journey, seek advice, and offer support to others in your community.

Questions to Ask Your Doctor

As you begin managing AL amyloidosis, it is essential to have open and detailed discussions with your healthcare provider. Consider these questions for a collaborative and informed approach to your care:

  • Unravelling the origins: What caused my AL amyloidosis?
  • Assessing severity: How severe is my AL amyloidosis?
  • Foreseeing potential complications: What complications could arise from my AL amyloidosis?
  • Exploring medication options: Are there medications available to manage my disease, and what are their associated benefits and side effects?
  • Navigating treatment choices: What other treatment options are on the table for me, and what are the risks and benefits of each?
  • Strategizing to prevent deterioration: How can I prevent my AL amyloidosis from worsening?
  • Tailoring lifestyle adjustments: What dietary or exercise modifications are recommended for managing AL amyloidosis? Are there other lifestyle changes I should consider supporting my overall well-being?
  • Finding reliable information: Where can I access trustworthy resources and information on AL amyloidosis?
  • Recognizing signs and seeking guidance: What symptoms should I be vigilant for that would indicate the need to contact my doctor or seek emergency assistance?
  • Connecting with peers: How can I connect with other individuals facing AL amyloidosis for support and shared experiences?

Additional Resources

Mended Hearts Inc.- Al Amyloidosis Discussion Guide

Cardiomyopathy GoToGuide

Mended Hearts Inc. - Living with ATTR-CM Discussion Guide

Mended Hearts Inc. - ATTR-CM Infographic

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