Mayo Clinic’s Accurate Amyloidosis Typing Test Leads to Effective Treatment

Mayo Clinic researchers have found that when the type of amyloidosis, a rare and potentially life-threatening disease, is appropriately determined by accurate and effective laboratory testing, it can be treated properly. These results, part of a comprehensive study of 16,175 cases performed at Mayo Clinic over an 11-year period, are reported in Mayo Clinic Proceedings.

“What we were able to show with certainty is that by ordering the correct test to determine the precise identity of the amyloid protein, health care providers can create effective treatment plans,” says Ellen McPhail, M.D., a hematopathologist within the Department of Laboratory Medicine and Pathology at Mayo Clinic and lead study author. “We have built an extremely comprehensive test that can identify all the common and uncommon amyloid types, and we have even discovered new amyloid types and new mutations in hereditary cases never previously seen before.”

Treatment for amyloidosis varies dramatically depending on the amyloid type, and can range from little to no treatment all the way to chemotherapy and organ transplants. There are at least 36 different amyloid types in humans, and it is essential for the type to be accurately identified in order for the correct treatment plan to be determined.

The test, available through Mayo Clinic Laboratories and performed by experts in the Immunostains Laboratory, Division of Anatomic Pathology at Mayo Clinic, uses mass spectrometry to determine the amyloid type.  Using a very small amount of tissue, the test unambiguously identifies all amyloid types in a single assay, and it is now considered the gold standard for typing amyloid fibrils in routine practice. Mass spectrometry-based proteomics provides the opportunity to test for all amyloid types, and Mayo Clinic’s expert pathology team utilizes this data to provide a personalized patient profile.

The researchers identified 21 amyloid types, ranging from hereditary to neoplastic to chronic inflammatory to age-related, in 31 different organs. About 10% of cases were rare amyloid types that are not typically identified by traditional typing methods. Using the data, the researchers were able to demonstrate the frequency of different types in different organs, and also to show that rare amyloid types often have a predilection for specific organs. “We’ve been able to describe demographics such as gender patterns, age ranges, and frequency of the different types within certain organs to provide an excellent overview of the entire landscape of amyloid,” says Dr. McPhail.

Practically speaking, for both amyloidosis patients and the clinicians who treat them, unequivocal identification of the amyloid type is mandatory for optimal treatment. The Mayo Clinic researchers have shown that mass spectrometry-based proteomics is an excellent means of accomplishing this goal. 

Suzanne Ferguson

Suzanne Ferguson is a Marketing Channel Manager at Mayo Clinic Laboratories and has worked at Mayo Clinic since 2014. Outside of work, Suzanne can be found traveling, reading and spending time with her family.