Amyloidosis Diagnosis & Treatment

Amyloidosis can damage major organs such as the heart, kidney, gastrointestinal track, and nervous system. It can affect the quality of life and life expectancy. The term amyloidosis refers to a group of diseases in which too much fibrillary protein builds up in the tissues. There are many forms of amyloidosis. Systemic amyloids can be caused by cancers, such as multiple myeloma or lymphoma, by chronic inflammatory disease, genetic conditions, or can occur as part of the aging process.

Some of the most common findings of amyloidosis are:

Bleeding into the skin or around the eyes
Protein in the urine, swelling of your legs, or kidney failure
Numbness, tingling, or pain in your hands or feet
Irregular heartbeat, shortness of breath, or congestive heart failure
Constipation, diarrhea, or difficulty swallowing food
Low blood pressure, severe fatigue, and weakness
Unintended, significant weight loss

There are many types of amyloidosis. The most common types are:

AL amyloidosis: Affects the heart, kidneys, skin, nervous system, and liver; less than 10 percent of these patients have multiple myeloma.
AA amyloidosis: Generally attacks the kidneys, but can also affect the digestive tract, liver, and heart. Most cases stem from chronic infections (such as osteomyelitis), inflammatory disease (such as rheumatoid arthritis), or genetic conditions. (such as familial Mediterranean fever)
Hereditary amyloidosis: A group of genetic conditions that cause symptoms in the liver, nervous system, heart, kidneys, and other organs.
Transthyretin amyloidosis: Affects the peripheral nervous system, including the nerves that connect the brain and spinal cord to muscles and sensory cells. One form is particularly prevalent as a cause of heart disease among African Americans.

Diagnosis and Treatment

It can be difficult to diagnose amyloidosis because its symptoms look like a variety of other conditions. This can delay diagnosis. The diagnosis evaluation includes a physical exam as well as blood and urine tests. The only way to be sure you have amyloidosis is by performing a biopsy of the involved tissue in patients with a high level of suspicion. The biopsy will be examined under the microscope to look for the amyloidosis fibrils.

Mount Sinai has the resources to provide a comprehensive approach to the diagnosis and treatment of this condition including:

Rheumatologists
Cardiologists
Dermatologists
Ear, nose, and throat (otolaryngology) experts
Gastroenterologists
Hematologists
Oncologists
Nephrologists
Neurologists
Pathologists

Why Mount Sinai

There are very few doctors in the world with experience in amyloidosis. At Mount Sinai, we have Dr. Peter Gorevic, a world-renowned expert in amyloidosis, with more than 30 years of experience in diagnosing, managing and researching this group of conditions. At Mount Sinai Dr. Gorevic has established a highly collaborative group of experts to help manage amyloidosis.