BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is an inherited disease characterized by cerebral demyelination, adrenal insufficiency, and progressive neurological deterioration. Hematopoietic cell transplantation (HCT) is the only effective treatment. Visual dysfunction is a common component of the disease and may continue to progress in patients after HCT. This study was designed to determine prognostic factors predictive of vision loss after HCT. SUBJECTS AND METHODS: A retrospective chart review was performed for all boys who had HCT for cerebral X-ALD at the University of Minnesota between 1991 and 2002. Patients were included if they survived 100 days post-HCT and had pre- and post-HCT ophthalmology evaluation. Complete data were available for 14 patients. Patient characteristics examined included HLA match status, graft-versus-host disease prophylaxis, source of HCT, reason for diagnosis, age at treatment, magnetic resonance imaging (MRI) severity score, pattern of demyelination on MRI, and pretreatment performance intelligence quotient (IQ). Univariate analysis was performed for correlation with posttransplant visual acuity and optic disk pallor. RESULTS: Factors significantly correlated with loss of visual acuity after HCT included pretransplant MRI severity score >11 (p = 0.03), pretransplant performance IQ <76 (p = 0.02), and the presence of pretransplant parieto-occipital demyelination on MRI (p = 0.03). Additionally, the presence of pretransplant parieto-occipital demyelination on MRI was found to correlate with the development of new optic disk pallor after HCT (p = 0.05). CONCLUSIONS: This study identifies patient characteristics predictive of vision loss after HCT for X-ALD. Decisions about treatment for X-ALD rely heavily upon prognostic information about adverse outcomes following HCT. These findings will aid clinicians counseling patients considering HCT for X-ALD.
BACKGROUND:X-linked adrenoleukodystrophy (X-ALD) is an inherited disease characterized by cerebral demyelination, adrenal insufficiency, and progressive neurological deterioration. Hematopoietic cell transplantation (HCT) is the only effective treatment. Visual dysfunction is a common component of the disease and may continue to progress in patients after HCT. This study was designed to determine prognostic factors predictive of vision loss after HCT. SUBJECTS AND METHODS: A retrospective chart review was performed for all boys who had HCT for cerebral X-ALD at the University of Minnesota between 1991 and 2002. Patients were included if they survived 100 days post-HCT and had pre- and post-HCT ophthalmology evaluation. Complete data were available for 14 patients. Patient characteristics examined included HLA match status, graft-versus-host disease prophylaxis, source of HCT, reason for diagnosis, age at treatment, magnetic resonance imaging (MRI) severity score, pattern of demyelination on MRI, and pretreatment performance intelligence quotient (IQ). Univariate analysis was performed for correlation with posttransplant visual acuity and optic disk pallor. RESULTS: Factors significantly correlated with loss of visual acuity after HCT included pretransplant MRI severity score >11 (p = 0.03), pretransplant performance IQ <76 (p = 0.02), and the presence of pretransplant parieto-occipital demyelination on MRI (p = 0.03). Additionally, the presence of pretransplant parieto-occipital demyelination on MRI was found to correlate with the development of new optic disk pallor after HCT (p = 0.05). CONCLUSIONS: This study identifies patient characteristics predictive of vision loss after HCT for X-ALD. Decisions about treatment for X-ALD rely heavily upon prognostic information about adverse outcomes following HCT. These findings will aid clinicians counseling patients considering HCT for X-ALD.