The importance of testing for adrenoleucodystrophy in males with idiopathic Addison's disease. Issue 3 (1st March 2002)

• Record Type: Journal Article
• Authors: Ronghe, M D; Barton, J; Jardine, P E; Crowne, E C; Webster, M H; Armitage, M; Allen, J T; Steward, C G
• Is Part Of: Archives of disease in childhood. Volume 86:Issue 3(2002)
• Page Start: 185
• Page End: 189
• Publication Date: 2002-03-01
• Subjects: adrenoleucodystrophy -- Addison's disease -- very long chain fatty acid; ACTH, adrenocorticotrophic hormone -- ALD, adrenoleucodystrophy -- AMN, adrenomyeloneuropathy -- C-ALD, cerebral ALD -- VLCFA, very long chain fatty acid -- X-ALD, X linked ALD; Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/adc.86.3.185
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : X linked adrenoleucodystrophy (X-ALD) is considered to be a rare cause of Addison's disease, although several small series suggest a high incidence in young Addisonian males. A survey in the south west of England identified 12 male patients diagnosed with Addison's disease in the period 1987–99. In 10 of these (83%) X-ALD was the underlying cause; the other two were of autoimmune aetiology. Five boys had developed Addison's disease subsequent to the diagnosis of X-ALD. Of the remaining five, in three boys the diagnosis of X-ALD was considerably delayed (by six months to two years from that of Addison's disease) and in two it was only made as a result of this survey. We also identified a patient who presented with Addison's disease at the age of 5 years but was only diagnosed as having X-ALD at the age of 34 years; in the interim his diagnosis of adrenomyeloneuropathy had been missed. Our experience highlights the absolute necessity of measuring very long chain fatty acids in all males with idiopathic Addison's disease.