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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.

ObjectivesChagas disease (CD) represents a growing problem in Europe; Italy is one of the most affected countries but there is no national framework for CD and access-to-care is challenging. In 2012 Médecins Sans Frontières (MSF) started an intervention in Bergamo province, where many people of Latin American origin (PLAO) are resident. A new model-of-care for CD, initiated by Centre for Tropical Diseases of Sacro Cuore Hospital, Negrar (CTD), the NGO OIKOS and the Bolivian community since 2009 in the same area, was endorsed. Hereby, we aim to describe the prevalence of CD and the treatment management outcomes among PLAO screened from 1st June 2012 to 30th June 2013.MethodsRetrospective cohort study using routine program data. Screening sessions were done in Bergamo at OIKOS outpatient service and serological confirmation, staging and treatment for CD was offered at the CTD. MSF provided health education on CD, awareness generation prior to screening days, pre-test and post-test counselling through cultural mediators of Latin American origin.ResultsOf 1305 PLAO screened, 223(17%) had CD. Among 210 patients eligible for treatment, 102(49%) were lost-to-follow-up before treatment. The median delay from diagnosis to treatment was 4 months (range 0.7–16.6 months). Among 108 started on treatment, 63(58%) completed treatment, 36(33%) interrupted treatment, (33 for drug side-effects, two for patients decision and one due to pregnancy), 6(6%) were lost-to-follow-up and 3(3%) were on treatment at study censuring.ConclusionIn this first study focusing on process of care for CD in Italy, less than 30% of patients completed treatment with drop-outs along the cascade of care. There is an urgent need to involve affected communities and local regional health authorities to take part to this model-of-care, adapting it to the local epidemiology. The Italian health authorities should take steps in advocating for a change in the current paradigm.

ContextType 3 autoimmune polyendocrine syndrome (APS-3) is defined by the presence of an autoimmune thyroid disease and another autoimmune illness, excluding Addison’s disease; this is a frequent combination.Case presentationWe report the case of a 55 years old female patient with APS-3, with seven clinical or latent autoimmune manifestations. At 49 years of age she was admitted at the General Hospital for leukopenia, weight loss, tremors, anxiety and diarrhea. The personal history revealed ulcerative colitis and, during the last year, episodes of fever with migrant arthralgia and cutaneous lesions. The patient was evaluated for thyroid function and imaging, mielobiopsy, glycaemic control, gastrointestinal and rheumatologic disorders with specific biochemical tests, imaging and endoscopic procedures. We concluded that the patient was affected by APS-3, characterized by the association of Graves’ disease, autoimmune leukopenia, latent autoimmune diabetes of the adult (LADA), autoimmune gastritis, ulcerative colitis, Sjögren’s and anti-phospholipid syndromes. The patient started low doses of corticosteroid drugs for leukopenia, underwent 131I therapy for hyperthyroidism and later started substitutive thyroid therapy with l-thyroxine, insulin therapy for LADA, mesalazine for ulcerative colitis and artificial tears for Sjögren’s syndrome.ConclusionsIn this article we report a complex case of APS-3, characterized by the association of seven different autoimmune diseases, which required a complex therapeutic strategy.

Addison's disease patients have more fragile bones irrespective of any decrease in bone mineral density. Supra-physiological doses of glucocorticoids and longer-standing disease (with a consequently higher glucocorticoid intake) might be the main causes behind patients' increased bone fragility. Associated mineralocorticoid treatment seems to have a protective effect on bone mineral density.