Amyloidosis

Specific symptoms of amyloidosis will depend on which organs are affected by the disease. This can make diagnosis particularly challenging in secondary amyloidosis because the underlying disease, disorder or condition may have similar symptoms.

General symptoms of amyloidosis include:

• Anemia (low red blood cell count)

• Clay-colored stools

• Fatigue

• Joint pain

• Numbness or tingling in the arms or legs

• Skin changes

• Swollen tongue

• Unexplained weight loss

• Weakness

Amyloidosis can lead to serious and potentially life-threatening complications. Seek immediate medical care (call 911) if you, or someone you are with, have amyloidosis and any of the following symptoms:

• Change in level of consciousness or alertness, such as passing out, fainting, confusion, or disorientation

• Decreased or no urine output

• Difficulty breathing or shortness of breath

• Irregular heartbeat or palpitations

• Persistent swelling of the ankles or other body parts

• Severe dizziness

• Swollen tongue

• Uncontrolled bleeding

• Unusual or sudden weakness or numbness

The specific types of amyloidosis and the underlying cause are listed below.

The cause of primary amyloidosis is not known, but it is related to the abnormal production of antibodies by cells called plasma cells. Plasma cells are found mainly in your bone marrow. Antibodies are made of proteins and help your body fight infections and diseases. Normally, your body can break down antibodies and recycle them. In amyloidosis, plasma cells produce antibodies that your body cannot break down. Instead, they accumulate in tissues and organs and cause complications.

Secondary amyloidosis is caused by other diseases, disorders and conditions. These are usually chronic infections, chronic inflammatory disorders, and certain cancers including:

• Ankylosing spondylitis (inflammatory disease of the spine and pelvis)

• Bronchiectasis (destruction of the large airways)

• Cystic fibrosis

• Familial Mediterranean fever (FMF)

• Hairy cell leukemia

• Hodgkin’s disease

• Inflammatory bowel disease (includes Crohn’s disease and ulcerative colitis)

• Juvenile idiopathic arthritis

• Multiple myeloma

• Osteomyelitis (bone infection)

• Renal cell carcinoma

• Rheumatoid arthritis (chronic autoimmune disease characterized by joint inflammation)

• Sjogren’s syndrome (autoimmune disease characterized by the destruction of moisture-producing glands)

• Systemic lupus erythematosus (disorder in which the body attacks its own healthy cells and tissues)

• Tuberculosis (serious infection affecting the lungs and other organs)

Hereditary amyloidosis is a condition caused by a defective gene that is passed down from parent to child. The most common form of hereditary amyloidosis is caused by a defect in the TTR gene. In this form of amyloidosis, your liver produces most of the abnormal protein that accumulates throughout the body.

Localized amyloidosis is caused by the accumulation of abnormal amyloid proteins in a specific area or organ of the body. The two most common types of protein that accumulate are A beta (Aβ) amyloid and islet amyloid polypeptide (IAPP). Localized amyloidosis is usually associated with another condition, such as diabetes, chronic dialysis, or Alzheimer’s disease.

A number of factors may increase your chances of developing amyloidosis, although not all people with risk factors will develop the condition. Common risk factors include:

• Age older than 40 years

• Family history of hereditary amyloidosis

• Male gender

• Other diseases, such as chronic infections, chronic inflammatory disorders, and certain cancers

The primary and hereditary forms of amyloidosis have no known prevention. However, you may be able to prevent or delay secondary amyloidosis by seeking treatment and following your treatment plan for diseases known to cause it.

Amyloidosis is a chronic condition. Treatment depends on the type of amyloidosis, your overall health, your treatment preferences, and the presence of any underlying diseases, disorders or conditions. All treatments have risks and benefits. Your health care provider is best able to guide your treatment decisions based on your specific circumstances.

Specific treatment of primary amyloidosis may include:

• Chemotherapy to eliminate the plasma cells that are producing abnormal antibodies. While amyloidosis is not cancer, chemotherapy may effectively control plasma cells.

• Corticosteroids such as prednisone to suppress plasma cell activity

• Stem cell or bone marrow transplantation to replace bone marrow cells destroyed by high-dose chemotherapy

Treatment of secondary amyloidosis focuses on aggressively treating the underlying disease, disorder or condition. There is no specific treatment for the amyloidosis itself, but bone marrow or stem cell transplantation may help certain people.

Because the liver is the site of abnormal protein production in this form of amyloidosis, liver transplantation is sometimes used to treat this disorder. Liver transplantation has been very effective when used in people who are proper candidates for this procedure.

Other methods for controlling amyloidosis include:

• Dietary therapy to decrease the production of amyloids and ease the work of affected tissues and organs. However, there is no link between amyloidosis and a protein-rich diet. Your health care provider can help you with a specific diet plan that meets your needs.

• Organ transplantation, such as kidney or heart transplantation, in properly selected patients

• Symptomatic treatment, which generally uses medications and other supportive treatments to relieve the symptoms caused by amyloidosis. This type of treatment is not aimed at treating the amyloidosis itself.

Complications of amyloidosis can be serious and even life threatening. Left untreated, amyloidosis can be fatal. Early diagnosis and treatment of amyloidosis offers the best chance for a hopeful prognosis and for effectively managing the disease. You can best treat amyloidosis and lower your risk of complications, or delay the development of complications, by following the treatment plan you and your health care professional design specifically for you.

Over time, amyloidosis can lead to serious complications including:

• Carpal tunnel syndrome and other problems with nerve function

• Congestive heart failure

• Depression

• Endocrine failure

• Gastroesophageal reflux disease (GERD)

• Kidney failure

• Malabsorption

• Respiratory failure