Characterization of health concerns in people with neurofibromatosis type 1

Abstract

Background: Neurofibromatosis 1 (NF1) is a common cancer predisposition syndrome. Affected individuals require lifelong surveillance and often suffer progressive disfigurement due to cutaneous neurofibromas. The aim of this research was to characterize health concerns and quality of life (QOL) in a population cohort.Methods: An online survey was completed by 68 adults and 32 parents of children with NF1, and 60 controls. The survey included the Skindex-29 QOL scale, 5D-itch scale, and additional health questions.Results: Frequency of itch was high in children (50%) and adults (69%), with most expressing interest in treatment for itch. The presence of itch and increased visibility of NF1 were predictors of poorer QoL. Many adults (53%) and parents (44%) desired access to treatment to improve cosmetic appearance. Muscle weakness/ tiredness was also prevalent amongst (60-70%) adults and children with NF1.Two-thirds of adults with NF1 reported limited awareness of NF1 services and poor knowledge of surveillance, particularly breast screening in young women. Conclusion:This study highlights the impact of NF1-related itch and visibility in adults and children with a need for cosmetic and itch treatment. The findings emphasize a need for strategies to promote awareness, and access to management and treatment of NF1 in adults.

Impact of neurofibromatosis type 1 on quality of life using the Skindex-29 questionnaire quality of life in NF1

“…However, standardization is needed to compare the QoL of NF1 patients from different regions or countries. There are only a few studies that have assessed QoL in NF1 patients with the Skindex-29 questionnaire: in France [27], Italy [10], the USA [18], and Australia [7,28,29]. Compared to prior studies, we observed a lower impact of NF1 in the QoL of the patients described in this study, as their scores were lower than in earlier reports.…”

“…Although those are not life-threatening, they have impacted NF1 patient's QoL. Pruritus has been described in about 35-69% of patients in prior studies [29,46] and was described as the more bothersome symptom of NF1 in 14% of patients [2]. Pruritus seems to be associated with the development of new neurofibromas [29].…”

Recommendations for assessing appearance concerns related to plexiform and cutaneous neurofibromas in neurofibromatosis 1 clinical trials

“…For example, several authors have modified the clinician-reported Ablon scale to a patient-reported format assessing the visibility of NF1 manifestations when clothed on a 3-point scale. 23,24 Similarly, Chen et al 25 used a 9-point rating scale that asked observers to consider the visibility of the disfigured area and Kleve et al 26 had participant rate how noticeable the disfigured area was to themselves and to others. However, self-reports of disfigurement may encapsulate more than just how visible or noticeable a tumor is to others, such as when an area of disfigurement is typically covered by clothing but still bothersome to the individual.…”

Development and pilot validation of a novel disfigurement severity scale for plexiform neurofibromas in children with neurofibromatosis type 1

“…10 PN-related disfigurement varies in location and degree, worsens over time as tumors grow, and has the potential to pose formidable obstacles to the medical and psychosocial well-being of patients. [11][12][13][14][15][16] Until recently, surgery was the only potential standard treatment of PNs. However, many PNs are inoperable due to their infiltrative nature.…”

“… 10 PN-related disfigurement varies in location and degree, worsens over time as tumors grow, and has the potential to pose formidable obstacles to the medical and psychosocial well-being of patients. 11 – 16 …”