Amyloidosis Symptoms & Diagnosis

Because amyloidosis is considered a rare disease and the symptoms can be vague and often mimic other conditions, it can be difficult to diagnose. The symptoms of amyloidosis vary depending on the organ that is affected and how much protein has deposited in the organ. 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 if amyloid has accumulated in the digestive system, a hallmark symptom is swelling of the tongue or diarrhea.

Amyloidosis symptoms may further include edema – swelling of the ankles and legs, weakness, weight loss, shortness of breath, neuropathy – numbness or tingling in hands or feet, diarrhea or constipation, early satiety – feeling full quickly, severe fatigue, macroglossia – an enlarged tongue, skin thickening or easy bruising, purpura – purple patches around the eyes, an irregular heartbeat, or difficulty swallowing.

How Doctors Diagnosis Amyloidosis

Doctors at NewYork-Presbyterian 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. Usually biopsies are conducted in an outpatient setting and can be taken from the patient's bone marrow or their abdominal fat, also called abdominal fat pad biopsy. The tissue sample is then examined by a NewYork-Presbyterian pathologist for abnormal plasma cells and amyloid deposits.

Occasionally, a biopsy may need to be taken from the heart, liver or kidney to help pinpoint the specific organ affected. For example, if a patient has heart failure then a NewYork-Presbyterian cardiologist would biopsy the heart, or if a patient has renal failure then a NewYork-Presbyterian nephrologist would biopsy the kidney.

Because amyloidosis can affect so many different organs, it is critical to have a multidisciplinary team with specialized experience in all of the different organ systems. The team of doctors who specialize in amyloidosis at NewYork-Presbyterian aim to have patients visit as many of the different specialists as needed in one appointment, thereby minimizing unnecessary patient visits to the Hospital.

Pathologists at NewYork-Presbyterian employ the latest technology to evaluate biopsy samples including dual immunostaining, congo red staining, and computer image analysis. The increased sensitivity of this testing platform allows doctors at NewYork-Presbyterian to make a definitive diagnosis of amyloidosis – often when other centers have deemed a biopsy negative – and help to determine the appropriate therapy. For a patient with fast progressing amyloidosis or one who has visited countless specialists, a definitive diagnosis and immediate treatment can be life-saving.