Autoimmune Polyglandular Syndrome Type II: Epidemiological, Clinical and Immunological Data

Fatma, .

doi:10.14740/jem227w

Cited by 3 publications

(4 citation statements)

References 15 publications

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“…APS II is inherited in an autosomal-dominant fashion with variable clinical expression. Other minor autoimmune diseases associated with APS II are vitiligo (5.7%), alopecia (3.8%), Sjogren’s syndrome (2.8%), pernicious anemia (1.9%), celiac disease (1.9%), autoimmune hepatitis (1.9%), and autoimmune thrombocytopenia (0.9%) [ 10 ]. These systemic manifestations also have an association with the HLA haplotypes.…”

Section: Discussionmentioning

confidence: 99%

Co-Occurrence of Systemic Lupus Erythematosus and Autoimmune Polyendocrine Syndrome II: Is There a Pathologic Link?

Aamer

Akram

Butt

et al. 2020

Cureus

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Autoimmune polyendocrine syndrome type II (APS II) is a rare endocrine disorder that involves the adrenal gland (Addison's disease), thyroid (autoimmune thyroiditis), pancreas (type 1 diabetes), and other nonendocrine organs. Herein, we report a case of a 58-year-old woman with a past medical history of systemic lupus erythematosus (SLE) and Addison's disease, who initially presented with nocturia, polyuria, abnormal sweating, fatigue, hair thinning, heat and cold intolerance, and progressive darkening of the skin for the last few months. After a thorough evaluation, she was diagnosed with autoimmune thyroiditis, and thus, she met the criteria for APS II. This report highlights the unusual presentation of APS II in a patient with SLE. We also discuss common pathophysiological mechanisms that can explain the concurrence of SLE and APS II in this patient.

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Section: Discussionmentioning

confidence: 99%

Co-Occurrence of Systemic Lupus Erythematosus and Autoimmune Polyendocrine Syndrome II: Is There a Pathologic Link?

Aamer

Akram

Butt

et al. 2020

Cureus

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“…"Besides clinical symptoms, serological testing is indispensable for the screening of patients with polyglandular autoimmunity. Concerning PAS I, interferon-ω and -α antibodies show the highest prevalence (95-100%) with early emergence and have been proposed for confirmation of diagnosis" [19,20]. "These autoantibodies are detectable in AIRE-deficient children as early as few months of age, before the appearance of clinical symptoms and/or organ-specific autoantibodies" [21][22][23].…”

Section: Probable Diagnosismentioning

confidence: 99%

Cardiac Tamponade Revealing an “APECED Syndrome”, an Unsual Manifestation in a 7-Year-Old Moroccan Girl: A Case Report

Njie,

Timimi,

Mulendele

et al. 2024

J. Compl. Altern. Med. Res.

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Background: APECED or multiple endocrine deficiency autoimmune candidiasis syndrome is a rare disease characterized by the manifestation of autoimmune endocrinopathies in a peculiar sequence during infancy. The clinical diagnosis of APECED requires the presence of at least two of these three major components: Chronic mucocutaneus candidiasis, hypoparathyroidism and or primary adrenal insufficiency. Genetic testing is necessary for precise identification in certain instances, particularly those presenting with atypical or subtle symptoms. Clinical Presentation: we report a rare clinical manifestation of APECED syndrome in a 7-year-old girl from a Moroccan origin, unique child born in a 2nd consanguineous marriage, was admitted initially for cardiac tamponade revealing the underlying disease. Patient’s assessment after pericardiocentesis confirmed hypoparathyroidism disease and undiagnosed chronic onychomycosis of the nails of her right hand. A genetic test was carried out after multidisciplinary discussion between cardiologists and endocrinologists which tested positive for a mutation in the AIRE (21q22.3) gene responsible for APECED syndrome. Treatment was based on symptomatic treatment of acute pericarditis according to the guidelines of European Society of Cardiology on the management of pericarditis with a good clinical outcome associated with oral calcium supplementation and levothyroxine. Conclusion: APECED syndrome is an exceptional disease both in terms of its frequency and its pathophysiological mechanisms and requires a multidisciplinary approach. The management of APECED syndrome involves the management of the various diseases. Patients must be monitored regularly to detect the appearance of other pathological elements of the syndrome.

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“…There are four types of APS, but in compliance with the clinical case, a Case Report major focus will be put on the APS type 2, which is the most common syndrome. 3,4 APS type 2 is characterized by: Addison's disease (100%) that may be associated with either autoimmune thyroid disease (Schmidt syndrome) or type 1 diabetes mellitus (Carpenter syndrome), or with both. Addison's disease and autoimmune thyroiditis are more common (70-82% of cases), whereas the combination of Addison's disease and type 1 diabetes mellitus occurs in 30-52% of cases.…”

Section: Introductionmentioning

confidence: 99%

“…Approximately half of the patients with APS type 2 have relatives with autoimmune diseases. [2][3][4][5][6]…”

Section: Introductionmentioning

confidence: 99%

Autoimmune Polyglandular Syndrome Type 2 and Pregnancy

Yanachkova¹,

Chaveeva²,

Staynova³

et al. 2020

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Autoimmune polyglandular syndromes are combinations of various endocrine and nonendocrine autoimmune diseases, as well as the presence of elevated organ-specific antibody titers. We present a clinical case of a 41-year-old pregnant patient with type 2 autoimmune polyglandular syndrome, combining Addison’s disease, Hashimoto’s thyroiditis and hypogonadism. The pregnancy was achieved after the use of assisted reproductive technology. During the pregnancy the patient was strictly monitored. Glucocorticoid and mineralocorticoid replacement therapy was adjusted according to the electrolyte profile and general condition of the patient. Management during pregnancy was difficult due to fluctuations in electrolyte levels, thyroid hormones and orthostatic manifestations. Prior to delivery adrenal crisis occurred, but the condition was successfully managed. No complications were reported for the mother and the newborn.

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Autoimmune Polyglandular Syndrome Type II: Epidemiological, Clinical and Immunological Data

Cited by 3 publications

References 15 publications

Co-Occurrence of Systemic Lupus Erythematosus and Autoimmune Polyendocrine Syndrome II: Is There a Pathologic Link?

Co-Occurrence of Systemic Lupus Erythematosus and Autoimmune Polyendocrine Syndrome II: Is There a Pathologic Link?

Cardiac Tamponade Revealing an “APECED Syndrome”, an Unsual Manifestation in a 7-Year-Old Moroccan Girl: A Case Report

Autoimmune Polyglandular Syndrome Type 2 and Pregnancy

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