Amyloidosis is a rare and potentially life threatening disease which occurs when toxic proteins build up in your tissues and organs. There are over 20 different types of these toxic proteins and they affect many different tissues and organs.
These proteins misfold into amyloid fiber and accumulate within various organs and tissues of the body, which alters their normal functions.
Diagnosing amyloidosis can be challenging because there are a variety of types which can affect different organs, most commonly the heart, kidneys, liver, nervous system, and gastrointestinal tract.
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Causes of Amyloidosis
The exact cause of amyloidosis is often unknown. Factors such as age, gender, other diseases, and family history may raise a person's risk of developing amyloidosis. The most common source of the toxic proteins are bone marrow plasma cells, a type of immune cell.
There are three major types of systemic amyloidosis:
- Primary amyloidosis the most common form, begins in your bone marrow, build up in the bloodstream, eventually depositing in body tissues. It is not associated with other diseases — except for multiple myeloma, a a cancer of bone marrow plasma cells.
- Hereditary (Familial) amyloidosis, an inherited genetic form passed down in families, often affects the heart, nerves and kidneys.
- Secondary amyloidosis (AA) occurs with a chronic infectious, or inflammatory disease, such as tuberculosis or rheumatoid arthritis.
Diagnosis for Amyloidosis
Diagnosing amyloidosis is a complicated process, as symptoms are frequently vague and appear similar to those of other common diseases spanning the areas of cardiology, nephrology, neurology, and more.
Often, it is the presence of many persistent, unrelated symptoms that alert a physician to the possibility of amyloidosis. Left untreated, the disease can be potentially life threatening so receiving a diagnosis early and accurately is very important.
General symptoms may include:
- Foamy urine
- Joint pain
- Low red blood cell count (anemia)
- Shortness of breath
- Swelling in the ankles, legs, and tongue
- Tingling and numbness in hands and feet
- Weight loss
Treatment and Clinical Trials
As amyloidosis is both rare and complex, seeking a proper diagnosis is important, and may require seeing multiple specialists. After receiving a diagnosis, treatment options for amyloidosis need to be personalized.
Treatment for the heavy build up of amyloids in the organs and tissues of the body usually involves dissolving the malfunctioning proteins or interrupting their production.
Some common treatment options include:
Amyloidosis is so uncommon many physicians are not up to date on the latest treatments; however, growing awareness of the condition is leading to new research and treatment alternatives to help manage the symptoms of amyloidosis and limit the production of amyloid proteins.
Bringing together expert physicians from multiple specialties, Penn Medicine's Amyloidosis Program is leading the way in the evaluation and management of patients with systemic amyloidosis.
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Support Groups, Resources and Events
For more information about Amyloidosis, visit the following resources: