gms | German Medical Science

Objective: Neurofibromatosis 1 (NF1) as a chronic-neurocutaneous disease has a relevant impact on quality of life (QoL). We have evaluated the role of disease severity, mental and physical health and compared the different severity classes of patients with NF1.

Methods: A prospective analysis of 89 patients with NF-1 who were treated in specialized NF outpatient department between 1/2016 - 3/2018 were included in the study. Employment status, education level and marital status were evaluated as well as 36-Item Short Form Health Survey (SF-36). Additionally, numerical pain rating scale (NPS) was evaluated. Patients were stratified according to different severity of NF-1 and different visibility and severity of disease.

Results: Severity grad 4 was identified in 42 (47.2%), moderate in 17 (19.1%), mild in 23 (25.8%) and minimal in 7 (7.9%) patients. Visibility scale showed severe grade 3 in 28 (31.5%), moderate grade 2 in 26 (29.2%) and mild grade in 35 (39.3%) cases. All SF-36 related data except for pain showed significantly lower values, if compared to the standard German population (p<0.001, physical component summary p=0.045). Sex, marital status and level of education showed no significant differences. Employment was significantly associated with better mental and physical status (p=0.028 and p=0.01 respectively) and age >40 was significantly associated with lower physical (p=0.027) but not mental component (p=0.362). According to the numerical pain rating scale, 7-10 were noted in 9 cases (10,1%), 5-6 in 10 patients (11.2%), 1-4 in 26 patients (29.2%) and no pain in 44 cases (49.4%). Physical component showed significant difference between different NPS grades (p<0.001) but no significance in mental component summery (p=0.06). Finally, we found no significant difference between different severity grades and visibility grades in mental component summery.

Conclusion: Patients with more severe form of NF-1 does not necessarily have inferior mental health even if physical limitations are present. Our cohort showed that employment and age < 40 ys was associated with better QoL according to SF-36.