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Essential Fatty Acid Deficiency
Essential fatty acid (EFA) deficiency is rare, occurring most often in infants fed diets deficient in EFAs. Signs include scaly dermatitis, alopecia, thrombocytopenia, and, in children, intellectual disability. Diagnosis is clinical. Dietary replenishment of EFAs reverses the deficiency.
The EFAs linoleic and linolenic acid are substrates for the endogenous synthesis of other fatty acids that are needed for many physiologic processes, including maintaining the integrity of skin and cell membranes and synthesizing prostaglandins and leukotrienes. For example, eicosapentaenoic acid and docosahexaenoic acid, synthesized from EFAs, are important components of the brain and retina.
For EFA deficiency to develop, dietary intake must be very low. Even small amounts of EFAs can prevent EFA deficiency. Cow’s milk has only about 25% of the linoleic acid in human milk, but when ingested in normal amounts, it has enough linoleic acid to prevent EFA deficiency. Total fat intake of people in many developing countries may be very low, but the fat is often vegetable based, with large amounts of linoleic acid and enough linolenic acid to prevent EFA deficiency.
Babies fed a formula low in linoleic acid, such as a skim-milk formula, can develop EFA deficiency. EFA deficiency used to result from long-term TPN if fat was not included. But now, most TPN solutions include fat emulsions to prevent EFA deficiency. In patients with fat malabsorption or increased metabolic needs (eg, because of surgery, multiple trauma, or burns), laboratory evidence of EFA deficiency may be present without clinical signs.
Dermatitis due to EFA deficiency is generalized and scaly; in infants, it can resemble congenital ichthyosis. The dermatitis increases water loss from the skin.
Diagnosis is usually clinical; however, laboratory assays are now available in large research centers.
Treatment consists of dietary EFAs, reversing the deficiency.
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