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Amyloidosis: A Rare Protein Production Disease

Amyloidosis is a rare disease in which amyloid proteins build up in various tissues and organs of the body. The build up of amyloid, an abnormal protein produced by plasma cells or other cells, impairs the function of various organs and may eventually lead to death.

Types of Amyloidosis

Amyloidosis is actually a group of diseases. The disease can be localized, with deposits in only one organ, or it can be systemic, with deposits in many different organs.

Doctors classify amyloidosis according to its association with other diseases:

primary amyloidosis: Primary amyloidosis, the most common type, is not associated with other diseases. The heart, lungs, skin, tongue, thyroid gland and intestinal tract are most often affected in primary amyloidosis.
secondary amyloidosis: Secondary or reflective amyloidosis occurs in association with infectious or inflammatory diseases such as tuberculosis, leprosy or rheumatoid arthritis. The organs most often affected are the kidneys, liver, spleen and lymph nodes.
hereditary amyloidosis: Hereditary amyloidosis is inherited and most often affects the nervous and digestive systems.

Amyloid protein deposits seem to be present in a variety of other diseases, such as:

Alzheimer's disease
Down's syndrome
type 2 diabetes
multiple myeloma
Hodgkin's disease
prion disorders such as mad cow disease and Creutzfeldt-Jakob disease.

Cause of Amyloidosis

The exact cause of amyloidosis is unknown, but medical researchers know that amyloidosis is a result of the production of abnormal proteins by cells, often plasma cells. Normal proteins can be broken down when they're no longer needed, but these abnormal proteins cannot be broken down. Instead, they build up in the bloodstream and eventually are deposited in organs and tissues.

Amyloidosis Symptoms

Symptoms of amyloidosis depend on the organs affected and the size of the amyloid deposit. In the early stages of the disease, most people experience few, if any, symptoms. But as the disease progresses and the amyloid deposits build up, various symptoms may show up, including:

fatigue
weight loss
shortness of breath
weakness
numbness or tingling in the hands and feet
swelling of the hands and feet
difficulty swallowing
an enlarged tongue
skin changes or rashes
diarrhea
an irregular heart beat
memory/cognitive problems
joint pain.

People with secondary amyloidosis may experience other symptoms, including:

kidney disease
an enlarged liver
an enlarged spleen
heart problems—although the heart problems for people with secondary amyloidosis are less severe.

In addition to the general amyloidosis symptoms, people with hereditary amyloidosis may experience specific symptoms, such as:

nervous system disorders
gastrointestinal disorders
heart problems
kidney disease.

With such a wide spectrum of symptoms, diagnosing amyloidosis may be difficult.

Risk Factors for Amyloidosis

The following factors increase one's chance of developing amyloidosis:

being male
being older than fifty
having a disease involving the plasma cells, which are responsible for producing the antibody proteins
having chronic infections and inflammatory diseases
having been on dialysis for more than five years.

Treating Amyloidosis

Treatments for amyloidosis depend on the type and the organs affected. If the patient has secondary amyloidosis, treating the underlying disorder usually treats the amyloidosis as well.

No cure currently exists for hereditary and primary amyloidosis. Treatment options aim to relieve symptoms and slow the accumulation of deposits in the organs. Often, a combination of medications such as corticosteroids, chemotherapy medications, antibiotics, colchicine and interferon are used to alleviate symptoms.

In more advanced cases of amyloidosis, medications may not be enough. If patients are experiencing severe heart problems or kidney failure, an organ transplant may be necessary. Some people may opt for a bone marrow transplant in hopes of a complete recovery.

Resources

Aetna InteliHealth Inc. (updated 2005). Amyloidosis.

Mayo Foundation for Medical Education and Research. (updated 2003). Amyloidosis.

National Library of Medicine. (updated 2005). Primary amyloidosis. MedlinePlus Medical Encyclopedia.

University of Maryland Medical Center. (updated 2000). Amyloidosis.