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      Primary adrenal insufficiency in adult population: a Portuguese Multicentre Study by the Adrenal Tumours Study Group

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          Abstract

          Introduction

          Primary adrenal insufficiency (PAI) is a rare but severe and potentially life-threatening condition. No previous studies have characterized Portuguese patients with PAI.

          Aims

          To characterize the clinical presentation, diagnostic workup, treatment and follow‐up of Portuguese patients with confirmed PAI.

          Methods

          This multicentre retrospective study examined PAI patients in 12 Portuguese hospitals.

          Results

          We investigated 278 patients with PAI (55.8% were females), with a mean age of 33.6 ± 19.3 years at diagnosis. The most frequent presenting clinical features were asthenia (60.1%), mucocutaneous hyperpigmentation (55.0%) and weight loss (43.2%); 29.1% of the patients presented with adrenal crisis. Diagnosis was established by high plasma ACTH and low serum cortisol in most patients (43.9%). The most common aetiology of PAI was autoimmune adrenalitis (61.0%). There were 38 idiopathic cases. Autoimmune comorbidities were found in 70% of the patients, the most frequent being autoimmune thyroiditis (60.7%) and type 1 diabetes mellitus (17.3%). Seventy-nine percent were treated with hydrocortisone (mean dose 26.3 ± 8.3 mg/day) mostly in three (57.5%) or two (37.4%) daily doses. The remaining patients were treated with prednisolone (10.1%), dexamethasone (6.2%) and methylprednisolone (0.7%); 66.2% were also on fludrocortisone (median dose of 100 µg/day). Since diagnosis, 33.5% of patients were hospitalized for disease decompensation. In the last appointment, 17.2% of patients had complaints (7.6% asthenia and 6.5% depression) and 9.7% had electrolyte disturbances.

          Conclusion

          This is the first multicentre Portuguese study regarding PAI. The results emphasize the need for standardization in diagnostic tests and etiological investigation and provide a framework for improving treatment.

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          Most cited references 25

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          Autoimmune polyendocrine syndromes.

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            Epidemiology of adrenal crisis in chronic adrenal insufficiency: the need for new prevention strategies.

            Adrenal crisis (AC) is a life-threatening complication of adrenal insufficiency (AI). Here, we evaluated frequency, causes and risk factors of AC in patients with chronic AI. In a cross-sectional study, 883 patients with AI were contacted by mail. Five-hundred and twenty-six patients agreed to participate and received a disease-specific questionnaire. Four-hundred and forty-four datasets were available for analysis (primary AI (PAI), n=254; secondary AI (SAI), n=190). Forty-two percent (PAI 47% and SAI 35%) reported at least one crisis. Three hundred and eighty-four AC in 6092 patient years were documented (frequency of 6.3 crises/100 patient years). Precipitating causes were mainly gastrointestinal infection and fever (45%) but also other stressful events (e.g. major pain, surgery, psychic distress, heat and pregnancy). Sudden onset of apparently unexplained AC was also reported (PAI 6.6% and SAI 12.7%). Patients with PAI reported more frequent emergency glucocorticoid administration (42.5 vs 28.4%, P=0.003). Crisis incidence was not influenced by educational status, body mass index, glucocorticoid dose, DHEA treatment, age at diagnosis, hypogonadism, hypothyroidism or GH deficiency. In PAI, patients with concomitant non-endocrine disease were at higher risk of crisis (odds ratio (OR)=2.02, 95% confidence interval (CI) 1.05-3.89, P=0.036). In SAI, female sex (OR=2.18, 95% CI 1.06-4.5, P=0.035) and diabetes insipidus (OR=2.71, 95% CI 1.22-5.99, P=0.014) were associated with higher crisis incidence. AC occurs in a substantial proportion of patients with chronic AI, mainly triggered by infectious disease. Only a limited number of risk factors suitable for targeting prevention of AC were identified. These findings indicate the need for new concepts of crisis prevention in patients with AI.
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              Clinical, immunological, and genetic features of autoimmune primary adrenal insufficiency: observations from a Norwegian registry.

              Primary adrenal insufficiency [Addison's disease (AD)] is rare, and systematic studies are few, mostly conducted on small patient samples. We aimed to determine the clinical, immunological, and genetic features of a national registry-based cohort. Patients with AD identified through a nationwide search of diagnosis registries were invited to participate in a survey of clinical features, health-related quality of life (HRQoL), autoantibody assays, and human leukocyte antigen (HLA) class II typing. Of 664 registered patients, 64% participated in the study. The prevalence of autoimmune or idiopathic AD in Norway was 144 per million, and the incidence was 0.44 per 100,000 per year (1993-2007). Familial disease was reported by 10% and autoimmune comorbidity by 66%. Thyroid disease was most common (47%), followed by type 1 diabetes (12%), vitiligo (11%), vitamin B12 deficiency (10%), and premature ovarian insufficiency (6.6% of women). The mean daily treatment for AD was 40.5 mg cortisone acetate and 0.1 mg fludrocortisone. The mean Short Form 36 vitality scores were significantly diminished from the norm (51 vs. 60), especially among those with diabetes. Concomitant thyroid autoimmunity did not lower scores. Anti-21-hydroxylase antibodies were found in 86%. Particularly strong susceptibility for AD was found for the DR3-DQ2/ DRB1*0404-DQ8 genotype (odds ratio, 32; P = 4 x 10(-17)), which predicted early onset. AD is almost exclusively autoimmune, with high autoimmune comorbidity. Both anti-21-hydroxylase antibodies and HLA class II can be clinically relevant predictors of AD. HRQoL is reduced, especially among diabetes patients, whereas thyroid disease did not have an impact on HRQoL. Treatment modalities that improve HRQoL are needed.
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                Author and article information

                Journal
                Endocr Connect
                Endocr Connect
                EC
                Endocrine Connections
                Bioscientifica Ltd (Bristol )
                2049-3614
                November 2017
                31 October 2017
                : 6
                : 8
                : 935-942
                Affiliations
                [1 ]Department of Endocrinology Centro Hospitalar do Porto, Porto, Portugal
                [2 ]Department of Endocrinology Hospital das Forças Armadas, Lisboa, Portugal
                [3 ]Department of Endocrinology Centro Hospitalar Tâmega e Sousa, Porto, Portugal
                [4 ]Department of Endocrinology Centro Hospitalar Lisboa Ocidental, Lisboa, Portugal
                [5 ]Department of Endocrinology Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
                [6 ]Department of Endocrinology Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal
                [7 ]Department of Endocrinology Centro Hospitalar do Baixo Vouga, Aveiro, Portugal
                [8 ]Department of Endocrinology Centro Hospitalar de Leiria, Leiria, Portugal
                [9 ]Department of Endocrinology Centro Hospitalar de São João, Porto, Portugal
                [10 ]Department of Endocrinology Centro Hospitalar Lisboa Norte, Lisboa, Portugal
                [11 ]Department of Endocrinology Hospital Garcia da Orta, Lisboa, Portugal
                [12 ]Department of Endocrinology Hospital de Braga, Braga, Portugal
                Author notes
                Correspondence should be addressed to L Ferreira; Email: liaferreira00@ 123456gmail.com
                Article
                EC170295
                10.1530/EC-17-0295
                5712836
                29089364
                © 2017 The authors

                This work is licensed under a Creative Commons Attribution 4.0 International License.

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