Health Equality and Socioeconomic Impact of Hereditary Sensory Neuropathy Type 1 ( HSN1 ) in the UK

BACKGROUND AND AIMS: Hereditary Sensory Neuropathy Type 1 (HSN1) is a rare autosomal dominant neuropathy caused by variants in the SPTLC1 and SPTLC2 genes, resulting in sensory loss, motor weakness, chronic ulceration, and risk of limb amputation. Whilst the clinical manifestations are well characterised, the socioeconomic and psychosocial impact remains under-researched and poorly understood. This pilot study aimed to assess the health equality and socioeconomic impact of HSN1 on affected individuals in the UK. METHODS: A novel 28-item anonymised questionnaire focusing on employment, healthcare access, finance, mobility, and wellbeing was distributed to 50 genetically confirmed HSN1 patients from an UK cohort. Responses were collected electronically. Quantitative and qualitative data were analysed descriptively. RESULTS: A total of 37 participants (74%) responded. Of these, only 24% were in full-time work, with 24% taking early medical retirement. Nearly half (46%) felt the disease negatively impacted career progression. Although 49% requested workplace adjustments, responses were mixed, with some reporting inadequate or denied support. Healthcare access was inconsistent due to long wait times, restrictive referral criteria, and poor awareness of HSN1 outside specialist centres. Financial strain was common; 41% reported income loss, and 21% spent over £1000 annually on disease-related costs. Driving ability was affected in 48%, and over half reported reduced participation in social activities. Nearly half believed healthcare professionals lacked sufficient understanding of the disease. INTERPRETATION: HSN1 imposes a substantial burden beyond physical symptoms, affecting employment, finances, independence, and mental health. These results highlight the need for better patient-centred care and improved education for non-specialist healthcare professionals. This is particularly timely in the context of emerging disease-modifying therapies such as L-serine and future gene therapy trials. TRIAL REGISTRATION: SENSE trial NCT06113055.