Autoimmune Polyglandular Syndrome (APS1), also known as Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED), is a rare but frequently debilitating disorder, usually presenting in childhood and adolescence; it is typically caused by homozygous AIRE mutations. The cardinal manifestations are chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism and autoimmune adrenal insufficiency; the development of any two of these three classic features leads to the diagnosis. There are many associated minor manifestations and these may be the main presenting features. It is becoming increasingly apparent that the involvement of non-endocrine tissues can play a significant role in the morbidity and mortality associated with this condition. This presentation, with the aid of cases, will consider:
The variability of the early clinical picture and the difficulties that this poses when making a diagnosis of APS1.
The underlying immune deficit in APS1 and the immune markers that can facilitate the diagnostic process.
The diverse clinical picture that we have observed in local patients and the management challenges associated with the non-endocrine organ-specific manifestations.
The need for input from multiple different paediatric specialities due to this widening clinical picture and the role of a specialised APS1 clinic.
Recent reports of heterozygous mutations in AIRE exerting a dominant negative effect, leading to patients who have a less severe form of APS1, developing at a later age and with better outcomes, raising the possibility that AIRE mutations may be more widespread in patients with autoimmunity than previously thought.
Potential strategies that may optimise the management of these patients and delay or prevent the onset of further autoimmunity.
Key learning point: APS1 is not just an endocrine disease and almost any tissue can be affected. Vigilance is therefore needed for prompt diagnosis and outcomes can only be improved if a range of specialists are involved in the management of these highly complex patients.
22 - 24 Nov 2017
British Society for Paediatric Endocrinology and Diabetes