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The following is a summary of “Disease Burden in Female Patients With X-Linked Adrenoleukodystrophy,” published in the February 2025 issue of Neurology by Grant et al. 

X-linked adrenoleukodystrophy (ALD) primarily affects male patients, but female patients develop symptoms in adulthood. Their disease course and symptom burden remain poorly defined. 

Researchers conducted a retrospective study to characterize disease burden in female individuals with ALD. They also identified barriers affecting this patient population. 

They recruited adult female individuals with genetically or biochemically confirmed ALD through an outpatient clinic and a patient advocacy group. They performed a retrospective chart review and telephone interviews to assess symptoms, interventions, injuries, comorbidities, and quality of life (QoL). They gathered retrospective data on ALD diagnosis and symptom onset in adult male patients for comparison. 

The results showed 127 female (median age 50.2 [39.2, 59.9]) and 82 male individuals with ALD (median age 37.5 [24.2, 43.9]). Among females, 115 (91%) reported neurologic symptoms, with urinary symptoms (74%), walking difficulty (66%), and spasticity (65%) being most common. Mental health symptoms were reported by 64%. Falls were reported at 70 (55%), injuries from falls by 61 (48%), and fractures by 54 (43%). Females had a later symptom onset and diagnosis than males. Symptoms led to diagnosis less often in females, and 22 of 46 were misdiagnosed. Healthcare access challenges were reported by 51 (90%) of 57 interviewees, and 49 (86%) reported reduced QOL. Activities beyond walking were affected by 25 (44%). 

Investigators found that myelopathy and neuropathy were common in female individuals with ALD, with disease burden worsened by mental health issues, health care barriers, and injuries. They noted recall and selection bias as study limitations. 

Source: neurology.org/doi/10.1212/WNL.0000000000213370