Health-Related Quality of Life Among Adult Patients With NF1-PN and Caregivers

An exploratory study reports that neurofibromatosis type 1 with plexiform neurofibromas (NF1-PN) worsens adult patients’ and pediatric caregivers’ health-related quality of life (QoL) compared to that of the general population, particularly in regard to pain and discomfort, anxiety and depression, and caregiver productivity.

This study, which was conducted in the United Kingdom, explored health-related QoL and work productivity in adult patients with NF1-PN and caregivers of pediatric patients with NF1-PN. Plexiform neurofibromas (PN) are complex, benign nerve-sheath tumors that occur in 30% to 50% of patients with NF1, a rare, genetic disorder, and are commonly associated with substantial, heterogeneous morbidities.

Adult patients and caregivers self-enrolled in an online survey between March and April 2021. For adult patients with NF1-PN, outcomes included EQ-5D-5L, PROMIS® GH and INF1-QOL. For caregivers, outcomes included EQ-5D-5L, CarerQol and WPAI.

Researchers estimated utilities from Q-5D-5L responses using the UK crosswalk value set. Linear regression models explored univariable associations between adult patient characteristics and health-related QoL.

The mean EQ-5D utility in adult patients with NF1-PN was 0.65 (±0.29; n = 35). Of these 35 patients, 14 (40%) reported moderate–extreme pain/discomfort and 18 (51.4%) reported anxiety/depression. The mean PROMIS® GH physical and mental health scores were 43.6 (±9.19) and 41.7 (±11.5; n = 35) and the mean INF1-QOL score was 11.03 (±6.02; n = 33). Researchers reported that chronic itching, at least one ≥1 symptom, ≥1 comorbidity, PN location at extremities (arms/legs), and pain were associated with worse health-related QoL scores.

For caregivers, the EQ-5D utility was 0.72 (±0.24; n = 8). Among these 8 caregivers, 4 (50%) reported moderate pain/discomfort and 2 (25%) reported moderate–severe anxiety/depression. The mean CarerQol score was 69.3 (±13.9; n = 8) and the mean WPAI regular activity productivity loss was 36.3% (±31.6%; n = 8).

In conclusion, the study showed that NF1-PN worsens adult patient and pediatric caregiver health-related QoL compared to that of the general population.

Source:

Yoo HK, Porteous A, Ng A, et al. BMC Neurol. 2023 Nov 23;23(1):419. doi:10.1186/s12883-023-03429-7.