To describe the health-related and neuropathy-related QOL burden among patients with transthyretin amyloidosis (ATTR) with PN.

ATTR amyloidosis is a rare, systemic, progressive, and fatal disease in which transthyretin proteins misfold and deposit as amyloid in the tissue. Amyloids can infiltrate nervous tissues, resulting in PN. ATTR is significantly undiagnosed due to the difficulty of distinguishing ATTR-related PN from other acquired conditions with PN.

Adult patients with ATTR were enrolled in an online, longitudinal observational survey study. The current analysis is based on data collected at the initial assessment; patients were a subset of the full sample who self-reported nervous system involvement with symptoms of PN (n=52). Measures included the 35-item Norfolk QOL-Diabetic Neuropathy (Norfolk QOL-DN), which captures the impact of neuropathy and its symptoms on patients’ functioning and QOL, and the SF-36v2 Health Survey®, a measure of generic physical and mental QOL. To examine the relative burden of ATTR-related PN, SF-36v2 scores for the current sample were compared to age- and gender-matched US general population norms. Neuropathy-related burden was examined by comparing Norfolk QOL-DN mean scores for the current sample to scores from a large sample of patients with diabetes type 2 with DN, with or without a history of ulceration, gangrene, or amputations.

SF-36v2 scores from patients with ATTR-related PN were significantly lower than those of the general population for all physical domains, three of four mental domains (vitality, social functioning, and role emotional), and the physical component summary score (all p< 0.01), but not the mental component summary score (p=0.053). Patients with ATTR-related PN had mean Norfolk QOL-DN total and domain scores similar to patients with type 2 diabetes with DN with a history of ulceration, gangrene, or amputations.

Patients with ATTR-related PN show significant burden on both generic and neuropathy-related QOL.