What Is Amyloidosis? 

Amyloidosis (pronounced am-uh-loy-DO-sis) is a rare but potentially fatal medical condition in which abnormal proteins, called amyloids, build up in the body’s organs, interfering with their proper functioning. Amyloidosis is not cancer, but it has been associated with a blood cancer known as multiple myeloma. Amyloids originate in the bone marrow and then circulate until they are deposited together with other, “sticky” proteins, analogous to the plaques that form in blood vessels or on teeth. The organs most often affected by amyloidosis are the liver, kidneys, spleen, heart, stomach, intestines, and nervous system. About 4,000 cases are reported each year. Amyloidosis has no cure but its symptoms can be curtailed by medical treatment. 

If you develop signs or symptoms of amyloidosis, see your physician. The hematologists and other medical specialists at Baptist Health are ready to help.

Symptoms 

Amyloidosis symptoms frequently go undetected in its early stages. The manner in which they becomes apparent in more advanced cases depends on where in the body the protein build ups are occurring.

Some general symptoms of amyloidosis include:

• Weakness and fatigue
• Shortness of breath
• Swollen organs and body parts, including the tongue, ankles, and feet
• Irregular heartbeat
• Unexpected weight loss
• Diarrhea and/or constipation
• Bowel obstructions
• Lightheadedness and fainting
• Trouble swallowing
• Numbness in the limbs
• Carpal tunnel syndrome or a burning sensation in the wrists and hands
• Discoloration and swelling of the skin

Amyloidosis is sometimes associated with other medical conditions, including multiple myeloma, Hodgkin’s disease, and type 2 diabetes. 

Causes and Types of Amyloidosis

The primary cause of amyloidosis is the accumulation of abnormal proteins in or on the organs of the body. There are, however, several types of amyloidosis, which means the disease manifests itself in different ways:

• AA amyloidosis: AA amyloidosis is associated with chronic infectious diseases, such as inflammatory bowel disease and rheumatoid arthritis. It develops primarily in the kidneys, liver, heart, and/or digestive organs. 
• Aβ amyloidosis: Amyloid buildup occurs in the brain lesions of Alzheimer disease patients.
• Dialysis-related amyloidosis: In this version of the disease, protein deposits fall chiefly in the joints, tendons, and ligaments. Carpal tunnel syndrome is one possible result. 
• Familial amyloidosis: Familial amyloidosis is a hereditary condition affecting the heart, nerves, liver, and kidneys. 
• Immunoglobulin light chain amyloidosis: Also called AL amyloidosis, this is the disease’s most common form. It affects the skin and several major organs, including the heart, kidneys, and liver.
• Wild type amyloidosis: This type usually impacts the hearts of men over the age of 70. It occurs when the transthyretin (TTR) protein produces amyloid.
• Local amyloidosis: This type of amyloidosis affects only a specific part of the body. Common localized areas of the body include lungs, skin, throat, and bladder.

These different types of amyloidosis can impact anyone but there are a number of factors that increase the risk of incidence. 

Risk Factors

Various amyloidosis risk factors can impact your diagnosis and treatment. 

The main risk factors include:

• Age. Although you can develop amyloidosis at any age, most cases occur in individuals between age 60 and 70.
• Gender. Amyloidosis develops more often in men than in women.
• Race. Individuals with an African heritage might be at higher risk of inheriting a genetic mutation that impacts the heart.
• Kidney Dialysis. Kidney dialysis can lead to an accumulation of proteins in your blood that eventually reach your tissue.
• Family History. Amyloidosis is sometimes genetic. 
• Other diseases or conditions. Certain conditions, such as chronic infectious or inflammatory disease, increases your risk for developing amyloidosis.

Diagnosis

Your physician will likely take the following steps to diagnose amyloidosis:

• Physical exam: Your doctor will examine you for evidence of amyloidosis. He or she will document your symptoms and ask questions about your medical history and possible risk factors.
• Laboratory analysis: A member of the physician’s staff will collect blood and urine samples. These can be analyzed for evidence of abnormal proteins. Liver and thyroid function tests may also be ordered. 
• Medical imaging: Medical imaging can be used to determine the location and extent of the disease. For example, an echocardiogram can provide information about whether protein buildup has begun to impinge on your heart. 
• Biopsy: To confirm the presence of amyloidosis, your physician will collect tissue samples for analysis. These samples are called biopsies. The tissues collected may derive from bone marrow, abdominal fat, or the liver or kidney. 

Treatment

Amyloidosis does not have a cure. There are, however, a number of treatments for retarding protein formation and managing symptoms to improve quality of life:

• Chemotherapy with or without stem-cell transplantation: These treatments can slow the production of abnormal proteins under AL amyloidosis.
• Anti-inflammatory medications: Steroids target the underlying sources of AA amyloidosis. 
• Liver transplant: Familial amyloidosis may respond to an organ transplant. 
• Patisiran therapy: Patisiran is an RNA-interference drug recently approved by the Food & Drug Administration for treating a form of hereditary amyloidosis. It hinders production of the abnormal protein TTR. 

Depending on the type of amyloidosis, other possible responses include diuretics for flushing the system, compression stockings, pain medications, and dietary changes. 

If left untreated, amyloidosis can be fatal. Much depends, however, on the version of the disease, and how quickly and effectively medical intervention begins. Given the right circumstances, quality of life can be maintained.