Clinical translation of genetic testing in TTR Amyloidosis: genotype-phenotype correlations, management of asymptomatic carriers and familial screening

Transthyretin (TTR)-related amyloidosis (ATTR) is a heterogeneous disease with different organ involvement depending on the type of TTR infiltration [mutated (vTTR) or wild-type (wtTTR)]. Genetic testing in ATTR required to define diagnosis and identify asymptomatic at-risk family members. Since new therapies are maximally effective early stages disease, there growing agreement about need for close monitoring genotype-positive, phenotype-negative individuals assure prompt treatment when minor signs detected. This review summarizes complexity genotype-phenotype correlation revises current indications respect familiar screening management carriers.