Cutaneous neurofibromas: patients' medical burden, current management and therapeutic expectations: results from an online European patient community survey

Abstract

Background: Neurofibromatosis type 1 is an inherited condition with variable phenotypic expression and a high medical and social burden. The objectives of this patient survey were to better understand the real-world experiences of patients living with cutaneous neurofibromas (cNF), to perceive their satisfaction and feelings about cNF current management (only laser and surgery are currently available), and to highlight their expectations of new therapeutic modalities.

Results: One hundred seventy patients from 4 European countries took part in the study, 65% (n = 110) were women and mean age was 39 years old. 96% (n = 164) of respondents have cNF on visible parts of the body and the survey confirmed that total number of cNF and visibility increase with age. Patients reported that cNF mainly impacts everyday mood, general daily life and social life. The visibility of cNF had a higher impact than their number. 92% (n = 156) of patients have a regular and multidisciplinary medical follow-up. The dermatologist is one of the most consulted healthcare professionals. 76% (n = 130) of respondents have treated their cNF: 65% (n = 111) had surgery and 38% (n = 64) had multiple laser sessions. Frequency of operations and regrowth of cNF were the two most unsatisfactory aspects with both treatments for patients. Indeed, after removal, new cNF appear in more than 75% (n = 128) of cases. As a future treatment, patients expected a topical (30%, n = 51) or oral medication (29%, n = 50). Around 2 out of 3 patients would agree to take it at least once a day or more for life but they would like a well-tolerated treatment. According to patients, the most important effectiveness criteria of a new treatment are to block cNF growth and reduce their number. 70% (n = 119) of patients would consider a future treatment moderately effective to very effective if it could clear 30% of cNF.

Conclusions: This first cNF European patient community survey confirmed that the visible stigma and unaesthetic aspect of cNF have an important impact on patients' quality of life. The survey highlighted that patients were not entirely satisfied with the actual surgery and laser treatments and revealed their clear and realistic expectations for future treatment of cNF.

Keywords: Cutaneous neurofibromas; Future medication; Neurofibromatosis type 1; Patient community survey; Quality of life; Real-world experience.

Fig. 1

Severity and visibility of cNF depending on the age of patients. Severity grade (total number of cNF on the whole body) and visibility grade (number of cNF present on visible parts of the body) presented globally and by patient age from grade 1 (≤ 10 cNF) to grade 5 (> 500 cNF)

Fig. 2

Inconveniences caused by cNF as reported by the patients. Description of the main inconveniences caused by cNF to the patients ranked from the most bothersome aspect (rank 1) to the least bothersome (rank 7). The inconveniences are filed according to the mean rank

Fig. 3

Medical monitoring of NF1 patients. Description of the medical monitoring of patients, which is broken down by physician specialty and frequency of consultation

Fig. 4

Satisfaction with surgery and laser. Presentation of patients’ level of satisfaction towards surgery and laser on several aspects: general satisfaction, regrowth of cNF after procedure, frequency of operation, effect on small cNF and appearance of scars after procedure. The results are presented as the median score and Q1/Q3 quartiles

Fig. 5

Effectiveness criteria for a future treatment. Presentation of effectiveness criteria for a future treatment from the most important (rank 1st-2nd) to the least important (rank 5th–6th)

Fig. 6

Risk benefit balance depending on the cNF severity. Presentation of the risk benefit balance globally and by cNF severity grade expressed as the % of patients who preferred a moderately effective but well tolerated treatment compared to a highly effective treatment with some side effects