Quality of life in patients with hereditary neuropathy with liability to pressure palsies

Over the last two decades, clinical researchers emphasized the need for a thorough evaluation of concepts such as Health Related Quality of Life (QoL) to study the impact of chronic illnesses and their treatments on the patient s life. Quality of life has never been measured in HNNP. To assess QoL of patients with hereditary neuropathies we performed a prospective multicenter (six centers see affiliations) multidimensional study by using validated clinical, disability, and quality of life measurements. We enrolled 13 patients affected by HNPP: 5 females, 8 males, mean age 41.2 years (SD 13.6, range 22 66). We used the most common tool for QoL assessment: the SF-36. The large diffusion of SF36 in scientific literature allows the use of the scale as a standard. SF-36 consists of 36 questions that inquire about the general health status of patients. This questionnaire provides eight specific categories of physical and emotional scores (Physical Functioning-PF, Role-Physical-RP, Bodily Pain-BP, General Health-GH, Vitality-VT, Social Functioning-SF, Role Emotional-RE, Mental Health-MH). Low scores indicate deterioration of the health status. The official Italian version was used; administration to the patients was done in agreement with standardized methodologies. We compared the SF-36 results of our sample of HNPP patients with those of Italian norms by using the one sample t-test. We observed that Quality of Life in HNPP is not impaired except for a mild deterioration of Physical Function domain, but this does not determine inability to perform daily activity due to physical or mental problems (Role Physical and Role Emotional which evaluate this two aspects are not significantly deteriorated with respect to the Italian norms). We think that QoL is not deteriorated in HNPP patients because deficits are usually focal and transitory. Interestingly, the awareness of being affected by an hereditary neurological disease associated with experienced transitory deficits does not determine deterioration of the mental aspects of QoL. We do believe that we should consider these results in approaching HNPP and we should use them to reassure patients with HNPP, especially at the moment we communicate the diagnosis.