Abstract


Background: Autoimmune polyglandular syndrome (APS) type 1 is a rare autosomal recessive disorder caused by mutations in AIRE, the autoimmune regulator gene. Approximately half of patients develop the classic triad of mucocutaneous candidiasis, hypoparathyroidism, and Addison’s disease, with onset of candidiasis or hypoparathyroidism typically preceding primary adrenal insufficiency.  We report a patient with Addison’s disease as the initial manifestation of APS1 and multiple siblings with variable presentations of the syndrome. view more

Background: Autoimmune polyglandular syndrome (APS) type 1 is a rare autosomal recessive disorder caused by mutations in AIRE, the autoimmune regulator gene. Approximately half of patients develop the classic triad of mucocutaneous candidiasis, hypoparathyroidism, and Addison’s disease, with onset of candidiasis or hypoparathyroidism typically preceding primary adrenal insufficiency.  We report a patient with Addison’s disease as the initial manifestation of APS1 and multiple siblings with variable presentations of the syndrome.
Case: A 73-year-old male was admitted to hospital for complications of urinary retention.  He had been diagnosed with Addison’s disease at age 15 years and was managed with prednisone (5 mg QD) and fludrocortisone (0.1 mg QD).  Hypoparathyroidism then occurred when the patient was in his late 50’s, and he was prescribed calcitriol (0.25 mcg TID) and calcium carbonate (1,250 mg QID).  Intact PTH checked after consultation was undetectable (< 0.4 pM, 0.9-7.7), and serum calcium was 7.8 mg/dL (8.8-10.0) with albumin 3.9 g/dL (3.4-4.9).  Examination was notable for petrified auricles, arthritic joint changes, onychomycosis of all extremities, hypopigmentation of the hands, and low abdominal pain.  Plain films of the hands showed changes indicating erosive arthritis.  The patient reported onset of fungal nail bed infections in his mid-60’s that were refractory to attempts at treatment with topical antifungal agents.  The patient is the oldest of 12 children; among 11 siblings, one younger sister died of complications of hypocalcemia at age 10 years, a younger brother was also under treatment for classical APS1, and another sister was treated for hypoparathyroidism and had developed onychomycosis.  Two other siblings had isolated onychomycosis for a total of six children in the family with cutaneous candidiasis.
Conclusion: The patient and his family are part of unusual APS1 kindred.  Onset of Addison’s disease occurred at a typical age in the patient’s case, but other manifestations of APS1 occurred very late and out of order with the classical phenotype.  Heterogeneity of presentation among siblings also makes the case interesting.  The finding of petrified auricles is rare, though it is has been reported in other cases of Addison’s disease.   The patient had two other potential non-endocrine manifestations of APS1, namely vitiligo and erosive arthritis.  This case illustrates that APS1 may be quite different than the historically reported presentation of childhood onset mucocutaneous candidiasis and hypoparathyroidism followed by adolescent onset adrenal insufficiency.

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