Self‐reported quality of life in symptomatic and asymptomatic women with X‐linked adrenoleukodystrophy

BACKGROUND: Up to 80% of women with X‐linked adrenoleukodystrophy (X‐ALD) develop symptoms of myelopathy and peripheral neuropathy during their lifetime. The study's objective was to compare symptomatic versus asymptomatic women with X‐ALD regarding their physical and mental well‐being and quality of life. METHODS: Data were obtained from a prospective, international, cross‐sectional cohort study of women with X‐ALD recruited both clinically and population based. Symptoms, quality of life, and physical and mental co‐morbidities were assessed by questionnaires. Women were considered symptomatic if they reported any sign of myelopathy or peripheral neuropathy. Group differences between symptomatic versus asymptomatic women and between age groups were examined using χ (2) tests for categorical and independent sample t tests or analysis of variance for continuous variables. RESULTS: Complete data were available from N = 180 women (mean age: 51.2 ± 13.6 years, range: 18–85), of whom 71.7% were classified as symptomatic, with prevalence increasing with age. Symptomatic versus asymptomatic women reported poorer physical and mental health, with 26.4% meeting the criteria for a clinical depression, 73.6% reporting chronic pain, 80.6% sleeping disturbances, 38.2% sexual dysfunction, and 47.3% restless legs syndrome. Large group differences were found on the physical health, but not on the mental health component of quality of life, where symptomatic women only differed when controlling for having a boy affected by X‐ALD (small effect) and treatment frequency (medium effect). CONCLUSIONS: Symptomatic women with X‐ALD present with physical and psychological co‐morbidities significantly reducing individuals’ quality of life. The findings emphasize the need to develop new multi‐disciplinary treatment options tailored to women's specific needs.