Disease Burden in Female Patients With X-Linked Adrenoleukodystrophy

Area of Science:

• Neuroscience
• Genetics
• Endocrinology

Background:

• X-linked adrenoleukodystrophy (ALD) is a neurodegenerative disorder primarily affecting males.
• The disease course and symptom burden in adult female ALD patients are not well-defined.

Purpose of the Study:

• To characterize the disease burden in adult female individuals with ALD.
• To identify barriers to healthcare access and quality of life impacts for this population.

Main Methods:

• Retrospective chart review and prospective telephone interviews were conducted.
• Data on symptoms, interventions, injuries, comorbidities, and quality of life were collected from 127 female ALD patients.
• A comparison cohort of 82 adult male ALD patients was included.

Main Results:

• 91% of female patients reported neurological symptoms, including urinary issues (74%), walking difficulties (66%), and spasticity (65%).
• Mental health symptoms were reported by 64% of females, with 55% experiencing falls and 43% reporting fractures.
• Female patients were diagnosed later than males and faced challenges in healthcare access, with 90% reporting difficulties and 86% experiencing reduced quality of life.

Conclusions:

• Female individuals with ALD experience a significant disease burden from myelopathy, neuropathy, and mental health issues.
• Barriers in healthcare access and complications like injuries exacerbate the disease impact.
• Delayed diagnosis and misdiagnosis are common challenges for female ALD patients.