Health-related Quality of Life and Satisfaction with German Health Care Services in Patients with Charcot-Marie-Tooth Neuropathy

Abstract

Background Charcot-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. Objective The aim was to assess HRQOL and the satisfaction with health care in CMT patients in Germany. Methods CMT 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. Results HRQOL 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. Conclusions The 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.

Patient-Reported Health-Related Quality of Life, Anxiety and Depression in Patients with Inclusion Body Myositis: A Register-Based Cross-Sectional Study in Germany

“…Annual cross-sectional PRO assessments in German IIM patients consider the five dimensions of the EQ-5D partly, only daily activities and anxiety/depression, and hence limit robust comparisons as there were previously only three IBM patients (2%) included in this IIM population [47]. Nevertheless, we found in IBM lower EQ-5D VAS mean values and more problems in the EQ-5D's mobility, self-care and usual activities dimensions than in our previous cross-sectional study in patients with Charcot-Marie-Tooth (CMT) neuropathies (mean VAS 58.8, SD 19.8) [48].…”

A Young Man With Hereditary Motor And Sensory Neuropathy: A Rare Genetic Association

“…The pathogenic loci GJB1, MFN2, and MPZ are also frequently found. 10 In recent years, a few familial and sporadic HMSN cases caused by rare site mutations have been reported due to the widespread use of gene sequencing technology. 11 This case study features a young man who initially had subtle lower limb weakness that progressively worsened.…”

Hereditary motor and sensory neuropathy with SOD1-mutant: A case report

“…Other common pathogenic loci include GJB1 , MFN2 , and MPZ . [ 8 ] With the widespread application of gene sequencing technology, some familial and sporadic HMSN cases caused by rare site mutations have been reported in recent years. [ 9 ]…”

“…Other common pathogenic loci include GJB1, MFN2, and MPZ. [8] With the widespread application of gene sequencing technology, some familial and sporadic HMSN cases caused by rare site mutations have been reported in recent years. [9] Studies have shown that HMSN is often accompanied by acute, subacute or chronic inflammatory responses, which can lead to an increase in oxidative stress and reactive oxygen species.…”