Table of ContentsView AllTable of ContentsWhat Is Amyloidosis?SymptomsCauseTypesDiagnosisTreatmentComplicationsRiskOutlook
Table of ContentsView All
View All
Table of Contents
What Is Amyloidosis?
Symptoms
Cause
Types
Diagnosis
Treatment
Complications
Risk
Outlook
Amyloidosis can affect various organs, including the heart, kidneys, liver, and spleen, the nervous system, and the digestive tract.The buildup of this protein in the organs will cause them to not work correctly.
Amyloidosis has no cure and, without treatment, can lead to organ failure. Fortunately, the condition is treatable, and its symptoms and amyloid production can be managed.
This article explains what amyloidosis is, including symptoms, causes, types, and more.
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Amyloidosis is sometimes called a protein misfolding disorder, in which misfolded proteins are the main reason the condition develops.The specific protein involved differs between types of amyloidosis.
The normal versions of amyloid proteins typically have jobs in the body, from supportingimmunityto regulating fluid balance and body processes. When the normal proteins finish their assigned jobs, they leave the bloodstream. But with amyloidosis, they misfold, take on abnormal shapes, and get deposited into the organs.
Amyloidosis is either systemic (widespread or affecting the whole body) or localized to one body area, and there are multiple subtypes.
Systemic amyloidosis is more common and can affect multiple organs and body tissues.Left untreated, it can lead to organ damage. Localized amyloidosis will affect one organ or only one area of the body.
Amyloidosis Symptoms
Thesymptoms of amyloidosisstart subtly and will vary depending on where amyloid proteins collect.
Symptoms might include:
Because some types of amyloidosis can affect more than one organ or multiple tissues, you may experience symptoms that affect more than one body area. It is also possible to not have any symptoms at all, especially early on.
Signs and Symptoms of hATTR Amyloidosis
What Causes Amyloidosis?
Amyloidosis occurs when amyloid protein builds up in one or more of your organs and causes them not to work correctly. It is sometimes secondary to another health condition or can develop as a primary condition.
Amyloidosis can also occur in people onlong-term dialysis. Sometimes, it is due to agene mutation, but other times, the cause is unknown.
Gene abnormalities linked to amyloidosis are present at birth and associated with an increased risk for the condition. Additionally, the type of gene abnormality can lead to disease complications or affect the age at which symptoms appear and how the condition progresses.
No Way to Prevent AmyloidosisAside from genetics, scientists do not actually know what causes amyloidosis or why certain proteins become misfolded. That means there is nothing a person can do to prevent amyloidosis. And while researchers are able to point to specific genes that might cause the disease, genes cannot be changed.
No Way to Prevent Amyloidosis
Aside from genetics, scientists do not actually know what causes amyloidosis or why certain proteins become misfolded. That means there is nothing a person can do to prevent amyloidosis. And while researchers are able to point to specific genes that might cause the disease, genes cannot be changed.
Types of Amyloidosis
The most common types of amyloidosis are light-chain (AL) amyloidosis, autoimmune (AA) amyloidosis, beta-2 microglobulin amyloidosis (Abeta2m), transthyretin (ATTR) amyloidosis, localized amyloidosis (ALoc), and wild-type ATTR.
Light-Chain Amyloidosis
Light-chain amyloidosis—also called primary amyloidosis—is the most common type, accounting for 70% of people with amyloidosis.The body’s immune system produces abnormalantibodiescalled light chains with AL amyloidosis.
Normal plasma cells (a type ofbone marrow cell) produce antibodies (proteins that fight infections). But sometimes, plasma cells can produce extra pieces of antibodies called light chains that misfold and bind together to form amyloid fibers. Amyloid proteins will circulate in the bloodstream and deposit throughout the body.
Autoimmune (AA) Amyloidosis
Autoimmune amyloidosis (AA)—also called secondary amyloidosis—occurs due to a reaction from a chronicinflammatory diseaseor a chronic infection. This type of amyloidosis affects the kidneys about 80% of the time.
The protein involved in this type is serum amyloid A, which is normally a part of the inflammatory reaction.Generally, an inflammatory reaction breaks down amyloid proteins, but this does not always happen in people with chronic inflammatory diseases. People withrheumatoid arthritis(RA) andinflammatory bowel disease(IBD) have the highest risk for secondary amyloidosis.
Beta-2 Microglobulin Amyloidosis (Abeta2m)
Abeta2m affects people withchronic renal failurewho have been on dialysis for many years. Beta-2 microglobulin is an immune system protein normally found on the surface of cells and in small amounts in the blood and urine. Here, amyloid deposits of beta-2 microglobulin accumulate in the joints and tendons because the kidneys cannot expel them.
Transthyretin (ATTR) Amyloidosis
The abnormal TTR proteins are amyloid fibers that, in excess, can lead toneuropathyandcardiomyopathyin middle age or late in life.
Localized Amyloidosis (ALoc)
There are different types of localized amyloidosis.ALoc leads to localized amyloid deposits in the airway, skin, eyes, and urinary tract. Amyloid deposits result from a localized production of immunoglobulin light chains and not ones that originate in the bone marrow plasma cells.
Wild-Type ATTR
Wild-type ATTR is related to aging, and often affects males over age 75.The amyloidosis type affects the heart and causescarpal tunnel syndromeas an early symptom.
Amyloidosis Diagnosis
Early diagnosis of amyloidosis can prevent organ damage, but the condition is often overlooked because symptoms can mimic those of other conditions. Therefore, it is helpful to share as much information as possible with your healthcare provider to assist them in making a diagnosis.
Your healthcare provider will start with a physical exam. They will also ask about your medical history, including symptoms, to determine what additional tests might be needed.
Laboratory tests and imaging can help make an amyloidosis diagnosis. These may include:
Immunohistochemistry(IHC) can be used to subtype amyloidosis.This test involves tissue collection to look for specific amyloid proteins on the surface of cells. Aprotein electrophoresis testis sometimes done in combination with the IHC test. The protein electrophoresis test can detect most amyloidosis conditions.
Amyloidosis Treatment
Amyloidosis is a chronic condition without a cure, but treatment can manage symptoms and limit amyloid production. Treatment can vary based on the type of amyloidosis and symptoms.
With secondary amyloidosis or autoimmune type, treatment starts with managing the underlying disease.For example, if the underlying cause is RA or IBD, the condition is treated withbiologicsand otherdisease-modifying antirheumatic drugs(DMARDs). In this case, symptoms ease wheninflammationgoes down.
Your healthcare provider may also prescribe medicines that help to clear amyloid fibers from the bloodstream, includingcorticosteroids,chemotherapy, andimmunotherapy drugs.
For hereditary amyloidosis types,liver transplantationis the most effective way to slow down the disease.A new liver will not produce abnormal amyloid proteins. Researchers are also looking at new therapies to prevent amyloid proteins from being deposited in the organs of people who develop this hereditary subtype.
Treatments for primary amyloidosis include corticosteroids and chemotherapy medicines, such as Velcade (bortezomib).These therapies can slow down organ damage, improve quality of life, and even prolong life.
Researchers are investigating high-dose chemotherapy withautologous stem cell transplantationfor treating primary amyloidosis and prolonging survival.Autologous stem cell transplantation involves harvesting a person’s own stem cells from their blood. Once they have high-dose chemotherapy, the stem cells are returned to populate the bone marrow.
Complications Associated With Amyloidosis
Treatment for amyloidosis can decrease symptoms and prevent disease-related complications. Complications associated with amyloidosis include kidney and heart failure and nervous system problems, as follows:
Who’s at Risk for Amyloidosis?
Certain risk factors can predispose a person to amyloidosis. These may include:
M-Protein Antibodies and Significance in Blood
Outlook and Life Expectancy
Life expectancy can vary based on the type of amyloidosis and how successful the treatment might be. Some types are life-threatening or fatal, while others are easily treatable.
For example, AL amyloidosis treatment can help people to live longer and even lead to long-term remission (periods without disease symptoms). In one study of 46 people with AL amyloidosis, 33% of people who took dexamethasone and melphalan achieved complete remission.The disease would be fatal without appropriate or successful treatment.
Successful treatment of the underlying cause can lead to a good outcome for people with AA amyloidosis.The earlier a person is diagnosed, the better their outlook will be. Early treatment can also reverse amyloid deposits and prevent kidney damage.
The specific genetic mutations linked to ATTR amyloidosis improve or worsen disease outcomes and life expectancy. The most common gene mutation for the disease is V30M, and people with this mutation respond well to liver transplants, improving life expectancy.Additionally, if the disease is left untreated, it could be fatal after around 7 to 10 years.
People with wild-type ATTR generally have better outcomes than they would with AL amyloidosis and ATTR amyloidosis. According to one 2015 study, 85% of people with wild-type survived past their one-year follow-up.People who experienced severe heart problems were more likely to have worse outcomes, but having a heart transplant significantly increased life expectancy.
It is important to understand that many factors determine life expectancy with amyloidosis, and much of the information available is related to averages and are not specific to personal outcomes. Your outlook is likely to be different than someone else’s.
And research has produced significant advancements in early diagnosis and successful treatment of amyloidosis, so a long and good-quality life is possible even with the condition.
Questions About Outlook and SurvivalContact your healthcare provider with your concerns or worries about your survival or outcomes. They are best positioned to help you understand your unique health situation.
Questions About Outlook and Survival
Contact your healthcare provider with your concerns or worries about your survival or outcomes. They are best positioned to help you understand your unique health situation.
Summary
Amyloidosis is a disease that causes abnormal amyloid protein buildup. Amyloid build-up can be dangerous and lead to organ damage and failure if left untreated. While the condition cannot be cured, symptoms cannot be treated and well-managed.
The most common types of amyloidosis are AL amyloidosis, AA amyloidosis, Abeta2m, ATTR amyloidosis, ALOC type, and wild-type. Each is unique in how it is diagnosed and treated. Further, some types have less favorable outcomes than others.
Even so, it is still possible for treatment outcomes to be positive. Your doctor can best address your concerns about treatment options or your outlook.
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