Diagnosing Amyloidosis

Amyloidosis is a condition where proteins in the body fold abnormally and deposit as fibrils in tissues. The two main types of amyloidosis are AL amyloidosis, associated with plasma cell dyscrasias, and ATTR amyloidosis, which can be either the wild type or caused by a genetic mutation. The key to diagnosing amyloidosis is recognizing the clinical clues and red flags, such as increased left ventricular wall thickness without hypertensive history, peripheral neuropathy, orthopedic manifestations like carpal tunnel syndrome and spinal stenosis, and autonomic dysfunction. A negative monoclonal protein screen and positive technetium scan can support a diagnosis of ATTR amyloidosis.