Some amyloidosis hands

Diagnosing Amyloidosis

There are several types of amyloidosis, all characterized by the presence of an overabundance of an amyloid protein that damages and disrupts organ, nerve, or tissue function. There are many options for treatment, but each type of amyloidosis requires a different method of managing symptoms and slowing or stopping the protein production. Here’s a look at how amyloidosis can be diagnosed. 

Finding The Root of the Problem

Unfortunately, amyloidosis is relatively rare and often closely resembles other illnesses, which leads to the diseases being overlooked. Since so many systems in the body can be affected, it may take a team of doctors to pinpoint the difficulties. If you know you have a family history of amyloidosis, this can be extremely important in properly diagnosing hereditary amyloidosis in any of its many forms. 

Lab Tests

The first step in diagnosis is a series of laboratory tests. These tests may vary depending upon which type of amyloidosis a physician suspects to be present, although many include a 24 hour urine sample collection to check protein levels. Blood tests may be used to evaluate the levels of specific enzymes, as well as to evaluate damage to various systems. For example, AA amyloidosis can be diagnosed by using a blood test that checks for abnormal immunoglobulin using the Freelite Assay test.

Biopsy

Following these tests, a biopsy may be performed. A special type of needle is inserted into a part of the body and removes a small sample of tissue, which is then examined by a pathologist for abnormalities. Where the sample comes from depends upon the symptoms and suspected type of amyloidosis. Since wild-type amyloidosis almost exclusively affects the heart, a sample of cardiac tissue may be taken. In AA amyloidosis (caused by underlying diseases), a sample of kidney tissue may provide more useful results.

Further Diagnostics

To identify the specific type of protein (and thus the cause and type of amyloidosis) present, the Amyloid Foundation states that “the most common diagnostic test is staining the tissue sample with antibodies that are specific for the major amyloid protein diseases, such as “anti-AA serum,” AL light chains, and anti-TTR.”

In order to figure out exactly what kind and how much damage has been done to the affected organs, imaging tests, such as an ultrasound, can be extremely helpful to get a real-time view of internal workings. Echocardiograms, an ultrasound of the heart, are often used if damage to the heart is suspected; this is especially common among wild-type. 

Last Updated: November 23, 2015