A personalized approach for superior sensitivity and accuracy
Amyloidosis is the buildup of abnormal misfolded proteins in the organs. The disease can be systemic and life-threatening, frequently affecting the kidneys, heart, or other vital organs. At least 36 different proteins cause amyloidosis, and the underlying pathogenesis of each type is unique.
Mayo Clinic’s amyloid protein identification methodology is considered the gold standard because of the high sensitivity and accuracy with which it types amyloid proteins in paraffin-embedded specimens. By combining focused laser microdissection (LMD) of Congo red-positive amyloid plaques with the analytical power of liquid chromatography-tandem mass spectrometry (LC-MS/MS)-based proteomic analysis, LC-MS/MS identifies the amyloid type with 100% specificity and 98% sensitivity — a major advancement from the widely used methods of the past.
For example, immunohistochemistry (IHC) delivers lower sensitivity and just 40%-80% specificity. In addition, typical IHC panels detect only three types of amyloidosis, which risks failing to identify the myriad of other amyloid types that together account for about 10% of amyloidosis patients.
How an ex-NFL linebacker overcame his greatest opponent: amyloidosis
Matt Millen, an ex-pro NFL player who played on four Super Bowl-winning teams, underwent a nearly six-year medical journey in search of answers. Finally, he was diagnosed with amyloidosis using a new testing methodology at Mayo Clinic.
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.
A mass spectrometry-based shotgun proteomics assay was implemented in a central reference laboratory. We documented our experience of typing 16,175 amyloidosis specimens over an 11-year period from January 1, 2008, to December 31, 2018.
Systemic amyloidosis, a serious and often life-threatening disease, is characterized by extracellular deposition of abnormal protein aggregates in blood-vessel walls and tissues, often leading to organ failure. Presenting symptoms are frequently vague, and pathognomonic findings are uncommon, which can result in a delay in diagnosis.