TRAINING and EDUCATION
Patient Education
UNDERSTANDING LIGHT
CHAIN AMYLOIDOSIS
Amyloidosis is a rare disease that occurs due to a buildup of protein in different vital organs
throughout the body. The disease is often misdiagnosed and not well understood, so there is a
growing need for education. Light chain amyloidosis is the most common type of amyloidosis.
Read below for more information about the diagnosis and treatment of this disease.
This “Patient Education” tear sheet was produced in collaboration with the Amyloidosis
Foundation (amyloidosis.org).
What is Amyloidosis?
Amyloidosis refers to several different types of diseases
where abnormal proteins are produced. These protein fibers can attach and deposit into organs, tissues,
nerves, and other places in the body, which affects
normal function of the area. As the amyloid protein
increases, health problems and organ damage may
occur. When amyloid clusters together, it can occur
in several places throughout the body (systemic) or
gather in one specific area (localized).
The various types of amyloidosis have different treatment courses; therefore, the correct diagnosis is extremely important.
Understanding Light Chain Amyloidosis
In the United States, light chain, or AL, amyloidosis is
the most common type, with approximately 4,500 new
cases diagnosed each year. It usually affects individuals
between 50 and 80 years old.
AL amyloidosis is caused by a bone marrow disorder.
The marrow in the center of bones produces cells in the
blood system, including plasma cells. In AL amyloidosis,
these plasma cells produce an abnormal antibody, immunoglobulin protein.
Immunoglobulin proteins are composed of four protein chains: two light chains (either kappa or lambda light
chains) and two heavy chains. In AL amyloidosis, the light
chains become misfolded, and these misfolded amyloid
proteins are deposited in and around tissues, nerves,
and organs. As the amyloid builds up, it gradually causes
damage and affects the function of the area where it
accumulates. AL often affects more than one organ,
though it does not affect the brain.
How Is AL Amyloidosis Diagnosed?
Diagnostic testing for AL amyloidosis involves blood
tests, urine tests, and biopsies. Blood and/or urine tests
can indicate signs of the amyloid protein and organ
damage, but only bone marrow tests or other small
biopsy samples of tissue or organs can confirm the diagnosis of amyloidosis.
Cut out and give to a patient
Symptoms of AL Amyloidosis
Symptoms of AL amyloidosis vary by patient, though initially they can be minor. Fatigue, weight loss, and swelling are the most common symptoms. Less commonly,
people may have bleeding or clotting problems.
For each patient, symptoms will depend on which
organs are affected by the amyloid deposits and the degree to which that organ function is impaired. The most
common organs affected include:
• Kidneys: Chronic kidney disease may occur, as
amyloid deposits in the kidneys can affect how
they filter proteins in the blood and dispose
of toxins, and may result in a condition called
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nephrotic syndrome, in which there is excess
protein in the urine (proteinuria) and the lower legs
can become swollen (edema).
• Heart: Amyloid proteins make the heart unable to
function efficiently, and deposits in the heart can
cause it to become unusually thickened and stiff,
which can result in shortness of breath and can
affect the heartbeat (arrhythmia).
• Digestive system: Amyloid deposits in the gastrointestinal tract can cause nausea, diarrhea, or
constipation; weight loss; loss of appetite; or a
feeling of fullness in the stomach after eating small
amounts of food.
• Nervous system: Amyloid deposits can affect the
nerves of the hands, feet, and lower legs and may
cause pain, numbness, and tingling. Nerves that
control blood pressure, heart rate, bowel motility,
erectile function, and other body functions can also
be affected.
How Is AL Amyloidosis Treated?
Treatment for AL amyloidosis should be tailored to
each patient. The type of treatment should be based
on disease progression and seriousness of the patient’s
organ, tissue, or nerve involvement. Treatment plans are
two-fold. Supportive treatment includes treating your
symptoms and organ damage, while source treatment
includes slowing down or stopping the overproduction
of amyloid at the disease source.
Reversing any damage to the organs and other parts
of the body is difficult to achieve, though if treatment
begins earlier, the overall success rate is higher.
In the United States, a stem cell transplant is often the
preferred therapy, as it can provide long-term control of
the underlying disease. However, only a minority of AL
patients are eligible to receive a transplant due to contraindications and risks of transplant-related morbidity and
mortality. Other chemotherapy-based treatments are
considered for the majority of AL amyloidosis patients.
Patients with AL amyloidosis are benefiting from the
recent development of new drugs for multiple myeloma
– including proteasome inhibitors like bortezomib and
carfilzomib and immunomodulators like thalidomide and
lenalidomide – many of which work effectively on the
plasma cells that cause AL amyloidosis.
Patient Resources
from the Amyloidosis
Foundation
The Amyloidosis Foundation
was founded in 2003 to
support medical and scientific
research for amyloidosis and
to raise awareness in hopes of
leading to earlier diagnoses,
to encourage research through
grants, and to empower
patients through a range of
services, including up-to-date
information on the disease.
For more information on
Patient Toolkits, educational
webinars, treatment centers,
and patient support portals,
visit amyloidosis.org/resources.
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