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.