Screening for adrenoleukodystrophy in adult men suffering from Addison’s disease

Written on Tuesday 15 July 2014

Patrice Latron / Inserm

During chronic insufficiency of the adrenal glands, or Addison’s disease, these glands are incapable of producing a certain type of hormones indispensable for life, the corticosteroids. This hormonal disease is characterized by extreme tiredness, muscle stiffness, arterial hypotension and bronze colouration of the skin. It can be controlled by a daily hormonal treatment, based on cortisone to replace the missing hormones.

In the case of adrenoleukodystrophy (ALD), the accumulation of very long chain fatty acids in the adrenal glands leads to their dysfunction and thus to Addison’s disease. ALD is a prime cause of Addison’s disease in boys. Little is known concerning the situation in adult men.

The aim of the study was to screen for ALD in men on the National Norwegian Registry with nonautoimmune Addison’s disease. A search for very long chain fatty acids was carried out on the plasma of the retained subjects to diagnose ALD.

Of the 35 patients evaluated, a single patient was diagnosed as positive for ALD. He was already known to the doctors because of his neurological symptoms. In Norway, ALD is the cause of Addison’s disease in 1 to 5% of the male population suffering from the latter disease. This proportion rises to 15% amongst men with nonautoimmune Addison’s disease.

In conclusion, ALD is a rare cause of Addison’s disease in adult males in Norway. Nevertheless, this diagnosis has profound consequences both for the patient and for his family. It is thus recommended to screen all adult men suffering from nonautoimmune Addison’s disease for levels of very long chain fatty acids.

Disease: X-linked Adrenoleukodystrophy (ALD)
Subjects: Patients with Addison’s disease on the National Norwegian Register
Study type: Diagnosis
Laboratory: Dr. Morten A. Horn, Department of Neurology, University of Oslo, Oslo, Norway

Source : M.A. Horn, M.M. Erichsen, A.S. Wolff, J.E. Månsson, E.S. Husebye, C.M. Tallaksen, O.H. Skjeldal. Screening for X-linked adrenoleukodystrophy among adult men with Addison’s disease. Clin. Endocrinol. 2013, 79(3):316-20.

Scientific information provided in collaboration with the INIST-CNRS Institute, Institute for Scientific and Technical Information