What key challenges remain in the diagnosis of ATTR amyloidosis?

Ronald Witteles, MD, Stanford University, Stanford, CA, discusses challenges that remain in the diagnosis of transthyretin (ATTR) amyloidosis. Diagnosis of this disease can be straightforward: from an initial suspicion, a monoclonal paraprotein assessment to rule out light chain (AL) amyloidosis and a technetium scintigraphy are conducted, and additional genetic testing can determine the exact mutation responsible for the disease. However, raising the initial suspicion poses a challenge, as other conditions that co-exist with ATTR amyloidosis, such as carpal tunnel syndrome and lumbar spinal stenosis, are often overlooked by cardiologists. Seeing that testing is non-invasive, accurate, and that treatment options can greatly reduce disease burden, it is important to inform doctors and establish basic findings and demographics which should trigger an evaluation for ATTR amyloidosis. This interview took place at the XIX International Symposium on Amyloidosis (ISA) in Rochester, MN.

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