Summary
The retinal and neurological complications of abetalipoproteinaemia may be preventable by replacing vitamins A and E from an early age, but their role in adult presentations is less clear. Two adult females with abetalipoproteinaemia have received 8 and 10 years respectively of replacement therapy with vitamins A, E and linoleic acid. In Case 1, visual function improved objectively on commencing therapy but has subsequently deteriorated and her neuropathy has slowly progressed. The rate of progression of neurological impairment in Case 2 was slowed but not halted by therapy, and her severe visual disturbance was unaffected. Replacement by fat soluble vitamins has only a limited role in the management of abetalipoproteinaemia once irreversible neurological/retinal damage has occurred.
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MacGilchrist, A.J., Mills, P.R., Noble, M. et al. Abetalipoproteinaemia in adults: Role of vitamin therapy. J Inherit Metab Dis 11, 184–190 (1988). https://doi.org/10.1007/BF01799870
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DOI: https://doi.org/10.1007/BF01799870