Affiliations: [a] University of Bayreuth, Institute for Healthcare Management and Health Sciences, Bayreuth, Germany
| [b] Max Rubner-Institute, Kulmbach, Germany
| [c] University of Bayreuth, Chair of Healthcare Management and Health Services Research, Bayreuth, Germany
| [d] Ludwig-Maximilians-University of Munich, Friedrich-Baur-Institute, Department of Neurology, Munich, Germany | [e] Department of Neurology, Hannover Medical School, Hannover, Germany
Note:  Shared last authorship / These authors contributed equally.
Abstract: BackgroundCharcot-Marie-Tooth (CMT) neuropathies entail a large group of diseases with different gene mutation patterns, which produce heterogeneous phenotypes. Although health-related quality of life (HRQOL) is significantly impaired, a comprehensive assessment of HRQOL in CMT patients in Germany considering phenotypical heterogeneity represented a research gap. ObjectiveThe aim was to assess HRQOL and the satisfaction with health care in CMT patients in Germany. MethodsCMT patients > 15 years with a genetically confirmed CMT subtype were recruited through a national CMT patient registry. HRQOL was assessed using the EQ-5D-5L questionnaire. Furthermore, subjective impairments in daily or work activities and satisfaction with health care were assessed using 4-point scales. ResultsHRQOL in CMT patients (n = 385) was impaired compared to the German population. Most patients reported problems in the dimension mobility (89.6%), pain/discomfort (89.4%) and usual activities (81.0%). Except for patients with hereditary neuropathy with liability to pressure palsy (HNPP), we found no differences in HRQOL between the CMT subtypes. 72.0%of CMT patients were satisfied with available health care services. However, patients reported to expect more CMT-specific knowledge and support as well as easier prescription and cost coverage procedures from health professionals and insurances. ConclusionsThe patient-reported outcomes in the assessed CMT cohort elucidate the need for more specific health care services that also address the heterogeneous phenotypes. Although the assessment has been limited to the German health services setting, insights may be applicable to CMT-specific care in other national settings.
Keywords: Charcot-Marie-Tooth disease, hereditary sensory and motor neuropathy, quality of life, patient reported outcome measures