Addison's disease: a survey on 633 patients in Padova

Abstract

Objective: Addison's disease (AD) is a rare endocrine condition. Design: We aimed to evaluate clinical, immunologic, adrenal imaging, and genetic features in 633 Italian patients with AD followed up since 1967. Methods: Adrenal cortex autoantibodies, presence of other autoimmune and nonautoimmune diseases, nonadrenal autoantibodies, adrenal imaging, and genetic profile for HLA-DRB1 and AIRE were analyzed. Results: A total of 492 (77.7%) patients were found to be affected by autoimmune AD (A-AD), 57 (9%) tuberculous AD, 29 (4.6%) genetic-associated AD, 10 (1.6%) adrenal cancer, six (0.94%) post-surgical AD, four (0.6%) vascular disorder-related AD, three (0.5%) post-infectious AD, and 32 (5.1%) were defined as idiopathic. Adrenal cortex antibodies were detected in the vast majority (88-100%) of patients with recent onset A-AD, but in none of those with nonautoimmune AD. Adrenal imaging revealed normal/atrophic glands in all A-AD patients: 88% of patients with A-AD had other clinical or subclinical autoimmune diseases or were positive for nonadrenal autoantibodies. Based on the coexistence of other autoimmune disorders, 65.6% of patients with A-AD were found to have type 2 autoimmune polyendocrine syndrome (APS2), 14.4% have APS1, and 8.5% have APS4. Class II HLA alleles DRB1*03 and DRB1*04 were increased, and DRB1*01, DRB1*07, DRB1*013 were reduced in APS2 patients when compared with controls. Of the patients with APS1, 96% were revealed to have AIRE gene mutations. Conclusions: A-AD is the most prevalent form of adrenal insufficiency in Italy, and w90% of the patients are adrenal autoantibody-positive at the onset. Assessment of patients with A-AD for the presence of other autoimmune diseases should be helpful in monitoring and diagnosing APS types 1, 2, or 4 and improving patients' care.

MANAGEMENT OF ENDOCRINE DISEASE: Epidemiology, quality of life and complications of primary adrenal insufficiency: a review

“…Autoimmune PAI occurs either as an isolated entity or as part of autoimmune polyendocrine syndromes type-1 and -2 (APS-1 and APS-2) (17,18,19) (Table 1). APS-1 is a rare, recessive monogenic disease that is caused by mutations in the autoimmune regulator (AIRE) gene, characterised by the presence of two of the three main components: PAI, hypoparathyroidism and chronic mucocutaneous candidiasis, which has been reviewed elsewhere (20).…”

Group 4: Replacement therapy for adrenal insufficiency

“…It should be noted that this enzyme is inhibited by the GH/IGF1 system, and could be theoretically less efficient in patients with a deficit in GH replacement, although this was not reported in a retrospective cohort study published by Ragnarsson et al [5]. Cortisone acetate is more readily accessible in some European countries, for example Italy [6]. Synthetic glucocorticoids, prednisolone and dexamethasone, are sometimes used in twice daily doses (5 mg prednisolone equivalent to 20 mg hydrocortisone) or as a single dose (0.5 mg dexamethasone equivalent to 20 mg hydrocortisone).…”

Clinical, Immunological and Molecular-Genetic Description of Symptoms in Children with Autoimmune Polyglandular Syndrome Type 1: Description of a Case Series

“…на группе из 174 пациентов с АПГС-1 показали наличие антител к IFN в 100%, к IFN ␣2 в 94% случаев [10]. В дальнейшем проводились многочисленные рабо-ты по изучению антител к IFN ␣2 и , и было доказано, что они относятся к высокочувствительным и высоко-специфичным маркерам данного синдрома [3,8,11], поэтому в ряде европейских стран, а затем и в России было предложено использовать их в качестве диагно-стического критерия АПГС-1. Исследование антител к IFN проводилось преимущественно методом радиоиммунно-го анализа.…”

“…ХНН обычно развивает-ся позднее -в возрасте до 12 лет [2,4]. Иногда малые признаки появляются ранее основных, и наблюдается стертое течение заболевания [8]. В работе Е. М. Орловой и соавт.…”