ORIGINAL ARTICLE

The importance of testing for adrenoleucodystrophy in males with idiopathic Addison's disease

M D Ronghe¹, J Barton⁴, P E Jardine², E C Crowne³, M H Webster⁵, M Armitage⁶, J T Allen⁷, C G Steward¹

¹ Department of Haematology/Oncology, Royal Hospital for Children, Upper Maudlin Street, Bristol BS2 8BJ, UK
² Department of Neurology, Royal Hospital for Children
³ Department of Endocrinology, Royal Hospital for Children
⁴ Department of Paediatrics, Royal Gwent Hospital, Cardiff Road, Newport N99 2UB, UK
⁵ Department of Paediatrics, Taunton and Somerset Hospital, Musgrove Park, Taunton TA1 5DA, UK
⁶ Department of Endocrinology, The Royal Bournemouth Hospital, Castle Lane East, Bournemouth BH7 7DW, UK
⁷ Biochemical Genetics Unit, The Lewis Laboratory, Clinical Chemistry, Southmead Hospital, Westbury-on-Trym, Bristol BS10 5NB, UK

Correspondence to:
Correspondence to:
Dr C G Steward, BMT Unit, Bristol Royal Hospital for Children, Upper Maudlin Street, Bristol BS2 8BJ, UK;
colin.steward{at}bristol.ac.uk

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.

Keywords: adrenoleucodystrophy; Addison's disease; very long chain fatty acid

Abbreviations: ACTH, adrenocorticotrophic hormone; ALD, adrenoleucodystrophy; AMN, adrenomyeloneuropathy; C-ALD, cerebral ALD; VLCFA, very long chain fatty acid; X-ALD, X linked ALD

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