Delay in diagnosis of X-linked adrenoleukodystrophy

Abstract In 16 consecutive patients with clinically suspected and biochemically proven X-linked adrenoleukodystrophy (X-ALD), total delay (interval between onset of symptoms and diagnosis) and specialist delay (interval between referral to a specialist and diagnosis) were determined. All patients previously were unaware of the existence of X-ALD in their families. From the time of onset of symptoms attributable to this disease until diagnosis, mean total delay was 9.9 (range 1–33) years and mean specialist delay was 8.4 (range 0–33) years. Three patients who presented with adrenocortical insufficiency had mean total and specialist delays of 17.3 (range 9–33) years. Five patients with an initial diagnosis of multiple sclerosis had mean total and specialist delays of 12.8 (range 5–25) and 11.2 (range 1–23) years, respectively. In 12 patients with adrenomyeloneuropathy-the second most frequent phenotype of X-ALD — mean total delay was 11.0 (range 2–33) years and mean specialist delay 9.1 (range 0–33) years. Since 1981 X-ALD can be reliably diagnosed on the basis of elevated levels of very long chain fatty acids in plasma and/or cultured fibroblasts. The delays therefore must have been due to the unfamiliarity with the clinical manifestations and diagnostic possibilities of this disease. Once X-ALD is diagnosed, dietary treatment and/or bone marrow transplantation may be considered. Genetic counseling should be performed, and screening of other family members is essential for the early identification of affected relatives.