Figure 1
A fully characterized phenotype is not a complete diagnosis. Bone scintigraphy with a negative monoclonal screen identifies the amyloid protein but cannot separate wild-type from hereditary transthyretin amyloidosis; only TTR sequencing does. Every classic red flag was absent in this patient, yet the indication to test was the confirmed diagnosis itself. Testing is directed at the patient with a phenotype and at relatives of a known familial variant, with counseling before and after. AL: light chain amyloidosis; ATTR: transthyretin amyloidosis; ATTR-CM: ATTR cardiomyopathy; EF: ejection fraction; IFE: immunofixation electrophoresis; PYP: technetium-99m pyrophosphate; TTR: transthyretin