Fast Five Quiz: Presentation and Diagnosis of Hereditary (Familial) Amyloid Transthyretin-Related (hATTR) Amyloidosis

Jefferson R. Roberts, MD


July 11, 2019

All types of amyloidosis, including ATTR, are diagnosed definitively by the demonstration of Congo red binding material in a biopsy or autopsy specimen. In addition, a cause-and-effect relationship between organ dysfunction and amyloid deposition can be definitively established by obtaining a biopsy from an impaired organ. Specific staining with antibodies against TTR distinguishes ATTR from other types of amyloidosis.

Although laboratory tests, such as complete blood cell count, chemistry panel, and renal function tests, may be helpful in pointing toward organ dysfunction, these tests are generally nonspecific. Other tests that can be performed include electrocardiography, nerve conduction studies, genetic studies, and cardiac imaging.

Learn more about the diagnosis, the differential diagnosis, and the workup of amyloidosis.


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