Neurology · 2025
Disease Burden in Female Patients With X-Linked Adrenoleukodystrophy.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Grant Natalie R, Li Yedda, De La Rosa Abreu Lizbeth, Becker Catherine, Wishart Brian D, Nagy Amanda, Eichler Florian S, Sadjadi Reza
Аннотация
BACKGROUND AND OBJECTIVES: X-linked adrenoleukodystrophy (ALD) is a neurodegenerative disease primarily affecting male patients. Female patients with ALD are also affected in adulthood, yet their disease course and symptom burden remain poorly defined. In this single-site study, we set out to characterize disease burden in female individuals with ALD and identify barriers faced by this patient population.
METHODS: Adult female individuals with genetically or biochemically confirmed ALD were recruited through an outpatient specialty clinic and a patient advocacy group. We performed a retrospective chart review and conducted prospective telephone interviews to assess symptom presence and onset, interventions and management strategies, injuries, comorbidities, and quality of life (QOL). For comparison, we retrospectively gathered data from ALD diagnosis and symptom onset for adult male patients with ALD seen in our clinic.
RESULTS: We included 127 female (median [interquartile range] age = 50.2 [39.2, 59.9]) and 82 male individuals with ALD (median [interquartile range] age = 37.5 [24.2, 43.9] years). Among our female cohort, 115 (91%) reported neurologic symptoms. The most common symptoms were urinary symptoms (74%), walking difficulty (66%), and spasticity (65%). Mental health symptoms were also common (64%). Of interest, 70 (55%) reported a history of falls, 61 (48%) had sustained injuries from falling, and 54 (43%) had a history of fractures. Compared with the male cohort, our female cohort had a significantly later age at symptom onset and diagnosis. In addition, symptom presentation was less likely to prompt a diagnosis in female individuals. Of 46 female individuals who sought clinical care for symptoms before diagnosis, 22 were initially misdiagnosed. Fifty-one (90%) of 57 female interviewees reported encountering challenges with health care access, and 49 (86%) reported a reduction in different aspects of QOL. Activities of daily living beyond walking were affected in 25 (44%) participants.
DISCUSSION: We conclude that symptoms related to myelopathy and neuropathy are common in female individuals with ALD and that their disease burden is aggravated by the high rates of mental health problems, barriers to health care access, and injuries and complications requiring treatment. Limitations of our study include a risk for recall bias and selection bias.
METHODS: Adult female individuals with genetically or biochemically confirmed ALD were recruited through an outpatient specialty clinic and a patient advocacy group. We performed a retrospective chart review and conducted prospective telephone interviews to assess symptom presence and onset, interventions and management strategies, injuries, comorbidities, and quality of life (QOL). For comparison, we retrospectively gathered data from ALD diagnosis and symptom onset for adult male patients with ALD seen in our clinic.
RESULTS: We included 127 female (median [interquartile range] age = 50.2 [39.2, 59.9]) and 82 male individuals with ALD (median [interquartile range] age = 37.5 [24.2, 43.9] years). Among our female cohort, 115 (91%) reported neurologic symptoms. The most common symptoms were urinary symptoms (74%), walking difficulty (66%), and spasticity (65%). Mental health symptoms were also common (64%). Of interest, 70 (55%) reported a history of falls, 61 (48%) had sustained injuries from falling, and 54 (43%) had a history of fractures. Compared with the male cohort, our female cohort had a significantly later age at symptom onset and diagnosis. In addition, symptom presentation was less likely to prompt a diagnosis in female individuals. Of 46 female individuals who sought clinical care for symptoms before diagnosis, 22 were initially misdiagnosed. Fifty-one (90%) of 57 female interviewees reported encountering challenges with health care access, and 49 (86%) reported a reduction in different aspects of QOL. Activities of daily living beyond walking were affected in 25 (44%) participants.
DISCUSSION: We conclude that symptoms related to myelopathy and neuropathy are common in female individuals with ALD and that their disease burden is aggravated by the high rates of mental health problems, barriers to health care access, and injuries and complications requiring treatment. Limitations of our study include a risk for recall bias and selection bias.