Amyloidosis

What is amyloidosis?

Amyloidosis is a group of diseases in which abnormal proteins, called amyloids, accumulate in the body and cause problems with bodily functions. Amyloidosis is not a form of cancer, but it is a serious condition.

Amyloidosis is classified as localized or systemic. Localized amyloidosis occurs when amyloids build up in only one place or organ, such as the brain or heart, and impair their function. Systemic amyloidosis occurs when amyloids build up throughout the entire body.

Localized amyloidosis

There are two major classifications of localized amyloidosis:

• Ab (amyloid beta) protein amyloidosis is the accumulation of beta amyloid protein and is associated with Alzheimer’s disease.

• AIAPP amyloidosis is the accumulation of islet amyloid polypeptide (IAPP) in the pancreas of people with type 2 diabetes.

Systemic amyloidosis

Systemic amyloidosis is further classified or described by the cause: primary, secondary or hereditary amyloidosis. The cause of primary amyloidosis is not known, but it is thought to be related to the immune system. Secondary amyloidosis is caused by other diseases, disorders and conditions, including certain cancers, chronic (long-term) inflammatory disorders, and chronic infections. Hereditary amyloidosis is a genetic condition that is passed down through families, from parent to child, and is the most rare form of the disease.

Amyloidosis is also classified by the type of abnormal protein being produced. This classification system uses letters to represent the abnormal protein. Systemic amyloidosis is generally classified as AL, AA or ATTR:

• AL (amyloid light chain) amyloids are typically associated with primary systemic amyloidosis. AL amyloids tend to accumulate in skin, nerves, heart, digestive system, kidneys, liver, spleen, and blood vessels. AL or primary amyloidosis is the most common form of the disease in the United States. However, it is still a relatively rare disease.

• AA (amyloid A) amyloids are usually associated with chronic diseases (secondary systemic amyloidosis) and tend to accumulate in the spleen, liver, kidneys, adrenal glands, and lymph nodes.

• ATTR (transthyretin) amyloids are produced in the hereditary form of amyloidosis and accumulate in nearly every tissue and organ in the body.

A variety of other forms of amyloidosis can also occur, such as dialysis-related amyloidosis caused by long-term dialysis.

The symptoms of amyloidosis vary widely and depend on the specific type of amyloidosis and the organs it affects. General symptoms of amyloidosis include fatigue, joint pain, unexplained weight loss, skin changes, and weakness. Because the symptoms of amyloidosis are common to a wide variety of other diseases, disorders and conditions, a correct diagnosis is very important. Contact your health care provider for a physical exam for symptoms that are persistent or recurrent. Early diagnosis offers the best chance for a hopeful outlook.

The treatment of amyloidosis will depend on the specific type of amyloidosis and the affected organs. You can help minimize your symptoms and your risk of complications by following the treatment plan you and your health care professional design specifically for you.

Amyloidosis is a serious and potentially life-threatening condition. Complications, multiple organ failure, and death are possible. Seek immediate medical care (call 911) if you have amyloidosis and develop any serious symptoms, such as difficulty breathing, shortness of breath, persistent swelling of the ankles or other body parts, no urine output, palpitations, or uncontrolled bleeding.