Burden of hereditary transthyretin amyloidosis on quality of life

Abstract

Introduction: Hereditary transthyretin (hATTR) amyloidosis is a progressive, degenerative disease, with peripheral neuropathy, cardiomyopathy, and other clinical manifestations. In this study we examine the impact of hATTR amyloidosis on quality of life (QOL).

Methods: Neuropathy-specific QOL, measured with the Norfolk QOL-Diabetic Neuropathy questionnaire, was compared between patients with hATTR amyloidosis and patients with type 2 diabetes, whereas generic QOL, measured with the 36-item Short Form Health Survey version 2 (SF-36v2), was compared between patients with hATTR amyloidosis, the general population, and patients with chronic diseases.

Results: Neuropathy-specific QOL for patients with hATTR amyloidosis was nearly equivalent to that of patients with type 2 diabetes with diabetic neuropathy accompanied by a history of ulceration, gangrene, or amputation. Generic QOL was worse than that seen in the general population, with physical functioning worse than that for patients with multiple sclerosis and congestive heart failure.

Discussion: Patients with hATTR amyloidosis show significant burden on QOL, particularly in physical functioning. Muscle Nerve 60: 169-175, 2019.

Keywords: ATTR amyloidosis; burden; polyneuropathy; quality of life; transthyretin amyloidosis.

Figure 1

Mean SF‐36v2 scores for the hATTR patient sample relative to age‐ and gender‐matched general population norms. hATTR, hereditary ATTR amyloidosis; MCS, Mental Component Summary; PCS, Physical Component Summary. Error bars represent standard errors of means. P < 0.05 for all comparisons. All differences exceeded minimally important difference (MID) thresholds except for mental health and MCS. Magnitude of effect sizes (Cohen's d‐values) for differences were as follows: physical functioning (d = 0.90); role‐physical (0.74); bodily pain (0.37); general health (0.53); vitality (0.33); social functioning (0.43); role‐emotional (0.35); mental health (0.17); PCS (0.82); and MCS (0.11).

Figure 2

Mean SF‐36v2 physical health scores for the hATTR patient sample relative to age‐ and gender‐matched chronic condition benchmarks. CD, Crohn's disease; CHF, congestive heart failure; DN, diabetic neuropathy; hATTR, hereditary ATTR amyloidosis; IBS, irritable bowel syndrome; MS, multiple sclerosis; PCS, Physical Component Summary. Error bars represent standard errors of means.

Figure 3

Mean SF‐36v2 psychological and social health scores for the hATTR patient sample relative to age‐ and gender‐matched chronic condition benchmarks. CD, Crohn's disease; CHF, congestive heart failure; DN, diabetic neuropathy; hATTR, hereditary ATTR amyloidosis; IBS, irritable bowel syndrome; MCS, Mental Component Summary; MS, multiple sclerosis. Error bars represent standard errors of mean.