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The New England Journal of Medicine May 2021
Topics: Addison Disease; Humans; Hyperpigmentation; Male; Middle Aged; Skin
PubMed: 33951364
DOI: 10.1056/NEJMicm2018221 -
The New England Journal of Medicine Jun 2021
Topics: Addison Disease; Adult; Female; Humans; Hydrocortisone; Pigmentation Disorders; Tongue; Tongue Diseases
PubMed: 34161701
DOI: 10.1056/NEJMicm2100706 -
Deutsche Medizinische Wochenschrift... Jan 2022Addison's disease typically results from the autoimmune destruction of the adrenal cortex and requires lifelong replacement with glucocorticoids and mineralocorticoids....
Addison's disease typically results from the autoimmune destruction of the adrenal cortex and requires lifelong replacement with glucocorticoids and mineralocorticoids. Main symptoms are non-specific and, therefore, often overlooked or misleading. Patients are frequently not diagnosed until experiencing a life-threatening adrenal crisis. This article highlights the essential clinical characteristics, diagnostic aspects and principles of management of adrenal insufficiency.
Topics: Addison Disease; Adrenal Cortex; Adrenal Gland Diseases; Adrenal Insufficiency; Glucocorticoids; Humans
PubMed: 35100642
DOI: 10.1055/a-1370-5874 -
Deutsche Medizinische Wochenschrift... Dec 2019We report the case within a 22-year-old patient, initially seen because of fatigue, weight loss and discoloration of the skin. A Hashimoto-Thyroditis had been diagnosed...
HISTORY AND CLINICAL FINDINGS
We report the case within a 22-year-old patient, initially seen because of fatigue, weight loss and discoloration of the skin. A Hashimoto-Thyroditis had been diagnosed a few months prior to the clinical presentation.
DIAGNOSTICS
Blood samples showed a hyponatremia and hyperkalemia. Addison's disease was diagnosed by management of cortisol, ACTH and adrenal antibodies. In combination with the previously diagnosed Autoimmune thyreoiditis the criteria for a Schmidt's Syndrome were fulfilled.
TREATMENT AND CLINICAL COURSE
We initiated the substitution of Hydrocortisone (20 mg/d) and Fludrocortisone (0.1 mg/d) in combination with an increased levothyroxin-dosage (100 µg/d). The patient's condition improved over the course of a few days.
CONCLUSION
The presented case underlines the importance of focused examinations and diagnostics when dealing with a patient with unspecific symptoms and a pre-existing autoimmune disease. This also applies to patients with a positive family history for autoimmune disorders.
Topics: Addison Disease; Adult; Cortisone; Female; Hashimoto Disease; Humans; Hyperkalemia; Hyponatremia; Polyendocrinopathies, Autoimmune; Thyroxine; Young Adult
PubMed: 31791082
DOI: 10.1055/a-0875-4538 -
Nature Reviews. Endocrinology Jul 2022Autoimmune Addison disease is an endocrinopathy that is fatal if not diagnosed and treated in a timely manner. Its rarity has hampered unbiased studies of the... (Review)
Review
Autoimmune Addison disease is an endocrinopathy that is fatal if not diagnosed and treated in a timely manner. Its rarity has hampered unbiased studies of the predisposing genetic factors. A 2021 genome-wide association study, explaining up to 40% of the genetic susceptibility, has revealed new disease loci and reproduced some of the previously reported associations, while failing to reproduce others. Credible risk loci from both candidate gene and genome-wide studies indicate that, like one of its most common comorbidities, type 1 diabetes mellitus, Addison disease is primarily caused by aberrant T cell behaviour. Here, we review the current understanding of the genetics of autoimmune Addison disease and its position in the wider field of autoimmune disorders. The mechanisms that could underlie the effects on the adrenal cortex are also discussed.
Topics: Addison Disease; Autoimmune Diseases; Diabetes Mellitus, Type 1; Endocrine System Diseases; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans
PubMed: 35411072
DOI: 10.1038/s41574-022-00653-y -
European Journal of Endocrinology Oct 2023Increased prevalence of cardiovascular disease has been reported in autoimmune Addison's disease (AAD), but pathomechanisms are poorly understood.
OBJECTIVE
Increased prevalence of cardiovascular disease has been reported in autoimmune Addison's disease (AAD), but pathomechanisms are poorly understood.
DESIGN
Cross-sectional study.
METHODS
We compared serum levels of 177 cardiovascular and inflammatory biomarkers in 43 patients with AAD at >18-h glucocorticoid withdrawal and 43 matched controls, overall and stratified for sex. Biomarker levels were correlated with the frequency of adrenal crises and quality of life (QoL) by AddiQoL-30. Finally, we investigated changes in biomarker levels following 250 µg tetracosactide injection in patients without residual adrenocortical function (RAF) to explore glucocorticoid-independent effects of high ACTH.
RESULTS
Nineteen biomarkers significantly differed between patients with AAD and controls; all but 1 (ST1A1) were higher in AAD. Eight biomarkers were significantly higher in female patients compared with controls (IL6, MCP1, GAL9, SPON2, DR4, RAGE, TNFRSF9, and PGF), but none differed between male patients and controls. Levels of RAGE correlated with the frequency of adrenal crises (r = 0.415, P = .006) and AddiQoL-30 scores (r = -0.347, P = .028) but not after correction for multiple testing. PDL2 and leptin significantly declined 60 min after injection of ACTH in AAD without RAF (-0.15 normalized protein expression [NPX], P = .0001, and -0.25 NPX, P = .0003, respectively).
CONCLUSIONS
We show that cardiovascular and inflammatory biomarkers are altered in AAD compared with controls, particularly in women. RAGE might be a marker of disease severity in AAD, associated with more adrenal crises and reduced QoL. High ACTH reduced PDL2 and leptin levels in a glucocorticoid-independent manner but the overall effect on biomarker profiles was small.
Topics: Humans; Male; Female; Addison Disease; Cross-Sectional Studies; Quality of Life; Leptin; Glucocorticoids; Cardiovascular Diseases; Inflammation; Cosyntropin; Biomarkers; Neoplasm Proteins; Extracellular Matrix Proteins
PubMed: 37807083
DOI: 10.1093/ejendo/lvad136 -
The Lancet. Diabetes & Endocrinology May 2020
Topics: Addison Disease; Female; Glucocorticoids; Humans; Hyperpigmentation; Middle Aged
PubMed: 32192601
DOI: 10.1016/S2213-8587(20)30076-0 -
Indian Journal of Pathology &... 2017
Topics: Abdomen; Addison Disease; Adrenal Glands; Antifungal Agents; Diabetes Mellitus, Type 1; Diagnosis, Differential; Giant Cells; Histoplasma; Histoplasmosis; Humans; Male; Middle Aged; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 29323092
DOI: 10.4103/IJPM.IJPM_717_16 -
Annales D'endocrinologie Jun 2018It is essential to encourage patient autonomy in the management of their illness, and notably their participation in treatment education programs; specific programs... (Review)
Review
It is essential to encourage patient autonomy in the management of their illness, and notably their participation in treatment education programs; specific programs target avoidance or early preventive treatment of acute adrenal insufficiency, which is a life-threatening complication. Therapeutic patient education is recommended by the two international consensus statements on the management of primary adrenal insufficiency and the French consensus on adrenal insufficiency. Although there is no common international reference framework to date, the objective of the French consensus was to provide a frame of reference to facilitate the development of therapeutic education for patients with adrenal insufficiency. The principal educational objectives were: for the patient to always carry the necessary emergency equipment; be able to identify situations of increased risk and the early signs of adrenal crisis; know how to adjust oral glucocorticoid treatment; be capable of administering hydrocortisone by subcutaneous injection; be able to adjust treatment to different situations (heat, physical exercise, travel); and be able to appropriately use the resources of the healthcare services. Other programs could also be developed to respond to patients' needs and expectations, notably concerning hydrocortisone dose adjustment to avoid overdose in the context of chronic fatigue syndrome.
Topics: Addison Disease; Adrenal Insufficiency; Consensus; France; Glucocorticoids; Hormone Replacement Therapy; Humans; Patient Education as Topic; Practice Guidelines as Topic
PubMed: 29606279
DOI: 10.1016/j.ando.2018.03.002 -
The Veterinary Record Jul 2016
Topics: Addison Disease; Animals; Desoxycorticosterone; Dog Diseases; Dogs; Drug Therapy, Combination; Evidence-Based Medicine; Fludrocortisone; Glucocorticoids
PubMed: 27450847
DOI: 10.1136/vr.i4052