Link between ALD and Addison’s Disease
In 2013, we instigated an Endocrine Awareness Project to highlight the potential for males with a diagnosis of primary idiopathic Addison’s Disease to have a diagnosis of ALD. Having seen first hand that a significant proportion of our service users had a previous diagnosis of Addison’s Disease or adrenal insufficiency and the catastrophic consequences of ALD not being picked up in time, we felt we had to act to raise awareness amongst endocrinologists.
Following funding from Mrs Smith and Mount Trust and the Myelin Project, we employed a part time project manager, Karen Harrison, a mother of twin sons with ALD, to coordinate this project. To date we have ensured information on several patient websites has been changed, are working with the British Society for Endocrinologists on amending their relevant medical literature as well as developing literature for emergency rooms. We’re also researching how to get clinical guidelines and pathway accredited by NICE.
Dr Colin Steward, Dr Marie-France Kong and Professor Stafford Lightman explaining why it is important to test patients with idiopathic Addison’s disease and adrenal insufficiency for Adrenoleukodystrophy:
“Adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) are important potential underlying diseases to consider in boys and men with idiopathic (unexplained) adrenal failure/Addison’s disease where adrenal antibodies cannot be detected and there is no other obvious cause of adrenal failure.
In ALD/AMN the adrenal failure is most commonly detected during childhood or adolescence. Studies indicate that the proportion of cases in which Addison’s disease is attributable to ALD is age dependent. It is highest when the adrenal insufficiency manifests before 15 years, where it appears to be responsible for one third of cases of primary adrenal failure in males.
The frequency of ALD/AMN in men with Addison’s disease is not clear, and smaller, localised studies may have been influenced by the tendency for clusters to develop where there is an affected family. Larger, more recent studies have tended to find lower rates of ALD/AMN among both boys and men“. Please read more from Dr Colin Steward, Dr Marie-France Kong and Professor Stafford Lightman: www.aldlife.org/wp-content/uploads/2014/10/Endocrine-Awareness-Statement.pdf
In 2014 Addenbrooke’s Hospital in Cambridge initiated a small study to ascertain the failure rate of diagnosing adult males with a relevant Addison’s diagnosis for ALD. The results showed a 50% failure rate and we are working on expanding this study nationally. The results were demonstrated as a poster at the British Endocrinology Society conference in both 2015 and 2016.
Link between ALD and Addison’s disease: www.aldlife.org/wp-content/uploads/2014/10/Endocrine-Awareness-Statement.pdf
The importance of testing for adrenoleucodystrophy in males with idiopathic Addison’s disease: www.aldlife.org/wp-content/uploads/2014/09/Importance-of-testing-for-ALD-in-males-with-idiopathic-Addisons-disease.pdf
Consensus statement on the diagnosis treatment and follow up of patients with primary adrenal insufficiency: www.aldlife.org/wp-content/uploads/2014/09/Consensus-statement-on-the-diagnosis-treatment-and-follow-up-of-patients.pdf
Recent advances in the molecular genetics of congenital and acquired primary adrenocortical failure: www.aldlife.org/wp-content/uploads/2014/04/Clinical-Endocrinology-2000-53-403-418.pdf
Early Diagnosis of Cerebral X-linked Adrenoleukodystrophy in Boys with Addison’s Disease Improves Survival and Neurological Outcomes: www.aldlife.org/wp-content/uploads/2014/09/Early-Diagnosis-of-Cerebral-X-linked-Adrenoleukodystrophy-in-Boys-with-Addison’s-Disease.pdf
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management: www.aldlife.org/wp-content/uploads/2014/12/X-linked-adrenoleukodystrophy-clinical-presentation-and-guidelines-for-diagnosis-follow-up-and-management.pdf