False-positive very long-chain fatty acids in a case of autoimmune adrenal insufficiency

Abstract

Abstract Background X-linked adrenoleukodystrophy (ALD) affects up to 25% of boys diagnosed with adrenal insufficiency in childhood. Because early identification of these individuals can be lifesaving, all boys with new-onset primary adrenal insufficiency should be tested for ALD with a plasma very long-chain fatty acid (VLCFA) level. While plasma VLCFA is a diagnostic test with high sensitivity and specificity, false-positive results have been reported in individuals on a ketogenic diet. Case presentation We present a case of an 11-year-old boy with new-onset primary adrenal insufficiency due to autoimmune adrenalitis who was initially found to have elevated VLCFA levels, suggestive of ALD, that normalized on repeat testing. Conclusions As advances in gene therapy and newborn screening for ALD expand, VLCFA testing may increase, and clinicians should be aware that testing during the initial presentation of primary adrenal insufficiency may lead to false-positive results and associated psychosocial distress.