Delay in diagnosis of X-linked adrenoleukodystrophy.
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.
van Geel
B M
BM
Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
Assies
J
J
Haverkort
E B
EB
Barth
P G
PG
Wanders
R J
RJ
Schutgens
R B
RB
Keyser
A
A
Zwetsloot
C P
CP
D000224:Addison Disease / Q000175:diagnosis; D000293:Adolescent; D000303:Adrenal Cortex Diseases / Q000175:diagnosis / Q000235:genetics; D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D002648:Child; D003711:Demyelinating Diseases / Q000175:diagnosis / Q000235:genetics; D005227:Fatty Acids / Q000097:blood; D005260:Female; D006801:Humans; D008297:Male; D008830:Microbodies; D009069:Movement Disorders / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype; D012737:Sex Factors; D014960:X Chromosome
D005227:Fatty Acids