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Return to Amyloidosis: A Rare Disease, Often Misdiagnosed Overview

More on Amyloidosis: A Rare Disease, Often Misdiagnosed

Amyloidosis: A Rare Disease, Often Misdiagnosed

NEW YORK (Aug 1, 2013)

When plasma cells divide abnormally, they can form an insoluble substance known as amyloid plaque that can accumulate and damage the heart, kidneys, liver, spleen, nervous system, and gastrointestinal tract – often with very serious results. This disease is called amyloidosis and it challenges physicians who are yet to know its cause and struggle to diagnose its symptoms which often mimic those of other conditions.


Suzanne Lentzsch, M.D., Ph.D.
Suzanne Lentzsch, M.D.,

Amyloidosis symptoms vary depending on the organ that is affected and how much protein has deposited in the organ. "And this is where the problem starts," said Suzanne Lentzsch, M.D., Ph.D., Director of the Multiple Myeloma and Amyloidosis Service at NewYork-Presbyterian/Columbia University Medical Center. "Because one, two, or multiple organs can be affected, the symptoms may vary and are very unspecific. Therefore, diagnosis and treatment can be difficult requiring a team of specialists," said Dr. Lentzsch. She emphasized that patients should seek treatment in a medical center with a dedicated amyloidosis program, such as hers, where doctors specialize in the disease.

Ruben Niesvizky, M.D.
Ruben Niesvizky, M.D.

"Patients with amyloid usually have a vague set of complaints, depending on what organs are affected," added Ruben Niesvizky, M.D., Director of the Myeloma Center at NewYork-Presbyterian/Weill Cornell Medical Center. For example, if amyloidosis has affected the kidneys, a patient may experience foamy urine and a urine test would indicate protein in the urine. If amyloid protein has accumulated in the nervous system, a patient may commonly experience carpal tunnel syndrome. And when there is abnormal accumulation of amyloid protein in the heart, patients may experience symptoms such as shortness of breath, dizziness, and edema. Patients fare well when the disease is diagnosed early but left untreated, amyloidosis can wreck havoc on a patient's tissues and organs.


To diagnose the disease, doctors typically begin with a physical exam, followed by blood and urine tests. If abnormal protein is detected in the blood or urine test and there is a suspicion of amyloidosis, a definitive diagnosis can be confirmed by tissue biopsy. Pathologists at NYP evaluate biopsy samples with special staining, and mass spectrometry analysis.

"Unfortunately, when a patient has many symptoms and already visited many doctors, it may be too late," said Dr. Niesvizky. He noted that the specialists at NYP try to diagnose amyloidosis as early as possible. "We need a high level of suspicion to detect amyloidosis early," he said.

Numerous Forms of Disease

There are many different forms of amyloidosis but the majority are classified into primary (AL), secondary (AA), and hereditary (ATTR), with AL amyloidosis being the most common. In AL amyloidosis, abnormal free light chains form amyloid that accumulates, resulting in severe structural and functional organ damage. "Treatment of AL amyloidosis requires a high level of expertise and experience," said Dr. Lentzsch. She noted that the correct diagnosis is crucial and therapeutic options may depend on the extent of organ involvement and the overall condition of the patient. Certain risk factors may predispose patients to AL amyloidosis including older age and having multiple myeloma. Patients with a chronic infectious or inflammatory disease may be at greater risk of developing AA amyloidosis, whereas patients with a family history of the condition are at greatest risk of developing ATTR amyloidosis.

Because the condition can affect many organs in the body, NYP has assembled specialists in hematology-oncology, cardiology, nephrology, pathology, neurology, and bone marrow transplantation to collaborate and provide care. Treatments help manage patient symptoms, limit the production of further amyloid proteins, and support the affected organs. A tailored approach is taken and treatment is geared toward how many organs are affected, the physiologic age of the patient, and his/her activity level. In addition, patients may be able to partake in clinical trials of emerging therapies.

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