Characteristics of patients with hereditary transthyretin amyloidosis: a retrospective case series

Diagnosis of hereditary transthyretin amyloidosis (hATTR) remains a challenge, thus understanding the neurologic and cardiac features of genetic ATTR variants (Val122Ile [n=31], Leu58His [n=13], and late-onset Val30Met [n=12]) at presentation may improve overall diagnosis of the disease.
Patients with V122I (10%) and V30 (17%) were rarely aware of an ATTRv family history, while 69% of patients with L58H were aware of mutation before diagnosis. Peripheral neuropathy and carpel tunnel syndrome were present in all 3 genetic variants at diagnosis. Cardiac characteristics (ProBNP, interventricular septum thickness, atrial fibrillation) were also present among these variants.
According to the authors, neurologic and cardiac characteristics are present in US ATTR variants V122I, L58H, and late-onset V30M at presentation and may additionally serve as useful diagnostic clues.