Approach
The goal for any patient is early treatment with dietary changes and vitamin supplementation to stave off end-stage disease sequelae. Treatment is aided by referral to a gastroenterologist, a neurologist, an ophthalmologist, and a dietitian. Of note, due to the rarity of this disease, treatment studies are limited to case report interventions.
General approach for all patients
All treatments may be initiated simultaneously. Patients must establish adequate caloric dietary intake with a low-fat diet consisting of <20% fat from total calories (5-20 g fat per day). Referral to a nutritionist may be advisable at this point. Long-chain triglycerides should be eliminated in favor of medium-chain triglycerides. If fats are ingested, medium-chain triglycerides are least toxic, but still should be limited as they may cause liver damage as well. A low-fat diet should be coupled with dietary supplementation of essential fatty acids and fat-soluble vitamins, including vitamin A, (high-dose) vitamin E, vitamin D, and vitamin K to prevent vitamin deficiency and its consequences of neurologic deterioration.[1][2][7]
Vitamin K treats associated coagulopathy, vitamin A treats night blindness, and early vitamin E supplementation can prevent or retard neurologic manifestations and retinopathy. Vitamin E can, in rare cases, reverse neurologic and retinal sequelae. There are no significant side effects from this intervention.
Vitamin D may be administered as well, but can be satisfied by nondietary sources, such as sunlight from outdoor exposure. Ultraviolet rays activate endogenously produced metabolites, producing vitamin D. Supplementation may be given to individuals of all ages and incurs no risk of toxicity.
Iron, folate, or vitamin B12 (cyanocobalamin) supplementation may be necessary to reverse signs of anemia.[29]
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