Regarding “Fatal adrenal crisis due to Addison’s disease arising in the context of autoimmune polyglandular syndrome type 1”

2021 ◽  
Author(s):  
Fabio De-Giorgio ◽  
Federica Foti ◽  
Eva Bergamin ◽  
Gianpio Sorice ◽  
Giuseppe Vetrugno
Keyword(s):  
Addison’S Disease ◽  
Adrenal Crisis ◽  
Addison's Disease ◽  
Syndrome Type ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type

scholarly journals Autoimmune Addison's Disease as Part of the Autoimmune Polyglandular Syndrome Type 1: Historical Overview and Current Evidence

2021 ◽  
Vol 12 ◽  
Author(s):  
Roberto Perniola ◽  
Alessandra Fierabracci ◽  
Alberto Falorni
Keyword(s):  
Specific Antigen ◽  
Addison’S Disease ◽  
The Self ◽  
Current Evidence ◽  
Addison's Disease ◽  
Chronic Mucocutaneous Candidiasis ◽  
Syndrome Type ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type

The autoimmune polyglandular syndrome type 1 (APS1) is caused by pathogenic variants of the autoimmune regulator (AIRE) gene, located in the chromosomal region 21q22.3. The related protein, AIRE, enhances thymic self-representation and immune self-tolerance by localization to chromatin and anchorage to multimolecular complexes involved in the initiation and post-initiation events of tissue-specific antigen-encoding gene transcription. Once synthesized, the self-antigens are presented to, and cause deletion of, the self-reactive thymocyte clones. The clinical diagnosis of APS1 is based on the classic triad idiopathic hypoparathyroidism (HPT)—chronic mucocutaneous candidiasis—autoimmune Addison's disease (AAD), though new criteria based on early non-endocrine manifestations have been proposed. HPT is in most cases the first endocrine component of the syndrome; however, APS1-associated AAD has received the most accurate biochemical, clinical, and immunological characterization. Here is a comprehensive review of the studies on APS1-associated AAD from initial case reports to the most recent scientific findings.

scholarly journals Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1

2020 ◽  
Vol 2020 ◽  
Author(s):  
Joana Lima Ferreira ◽  
Francisco Simões de Carvalho ◽  
Ana Paula Marques ◽  
Rosa Maria Príncipe
Keyword(s):  
Addison’S Disease ◽  
Clinical History ◽  
Addison's Disease ◽  
Syndrome Type ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type ◽  
High Index Of Suspicion

Summary Autoimmune polyglandular syndrome type 1 (APS-1) is a very rare autoimmune entity, accounting for about 400 cases reported worldwide. It is characterized by the presence of at least two of three cardinal components: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism and Addison’s disease. It typically manifests in childhood with CMC and years later with hypoparathyroidism. A 50-year-old man was referred to the Endocrinology outpatient clinic due to irregular follow-up of primary hypoparathyroidism diagnosed at age 7. Previous analysis reported frequent fluctuations of calcium and phosphate levels and persistent hypercalciuria. He presented several comorbidities, including bilateral cataracts, other ocular disorders, transient alopecia and chronic gastritis. Due to weight loss, fatigue, gastrointestinal complaints and the findings at objective examination, Addison’s disease and CMC were investigated and confirmed. Antifungal therapy and hormonal replacement were started with evident clinical improvement. Regarding hypoparathyroidism, calcium-phosphate product decreased and other extraskeletal calcifications were diagnosed, such as nephrolithiasis and in basal ganglia. Further evaluation by genetic analysis revealed homozygosity for a frameshift mutation considered to be a pathogenic variant. It was reported only in two Asian siblings in compound heterozygosity. This case highlights the broad phenotypic spectrum of APS-1 and the significative intra-familial phenotype variability. A complete clinical history taking and high index of suspicion allowed the diagnosis of this rare entity. This case clarifies the need for regular long-term follow-up. In the specific case of hypoparathyroidism and Addison’s disease in combination, the management of APS-1 can be complex. Learning points: Autoimmune polyglandular syndrome type 1 (APS-1) is a deeply heterogeneous genetic entity with a broad spectrum of clinical manifestations and a significant intra-family phenotypic variability. Early diagnosis of APS-1 is challenging but clinically relevant, as endocrine and non-endocrine manifestations may occur during its natural history. APS-1 should be considered in cases of acquired hypoparathyroidism, and even more so with manifestations with early onset, family history and consanguinity. APS-1 diagnosis needs a high index of suspicion. Key information such as all the comorbidities and family aspects would never be valued in the absence of a complete clinical history taking. Especially in hypoparathyroidism and Addison’s disease in combination, the management of APS-1 can be complex and is not a matter of simply approaching individually each condition. Regular long-term monitoring of APS-1 is essential. Intercalary contact by phone calls benefits the control of the disease and the management of complications.

scholarly journals Hypoadrenalism as the Single Presentation of Autoimmune Polyglandular Syndrome Type-1

2021 ◽  
Author(s):  
Nadim H Nasser ◽  
Nadra G  Samra ◽  
Deeb D Naccache
Keyword(s):  
Similar Case ◽  
Case Reports ◽  
Addison’S Disease ◽  
Hereditary Disease ◽  
Addison's Disease ◽  
Chronic Mucocutaneous Candidiasis ◽  
Autoimmune Polyglandular Syndrome ◽  
Single Presentation ◽  
Autoimmune Polyglandular Syndrome Type

Abstract Type-1 autoimmune polyglandular syndrome (APS1) is a rare hereditary disease affecting nearly 600 patients worldwide. The first of its cardinal manifestations, chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HPT), or Addison’s disease (AD), presents in childhood. Additional non-classical landmarks of APS1 continue to develop as late as the fifth decade of life. Two-thirds of patients develop the full triad before 25 years of age. Only 20% of patients develop the entire triad simultaneously. Addison's disease is rarely reported as the first manifestation.According to APS1 classifications, restricted criteria for a single cardinal component, although elements of suspicion are not sufficient to diagnose APS1.This case report is peculiar as hypoadrenalism was the first and only manifestation of APS1 for nearly three decades since its diagnosis. Theoretically, exceptions from the protocol of APS1 diagnostic criteria would be recognized as acceptable for diagnosis in the future, when similar case reports of only one component of APS1 appear.

Hyponatremic rhabdomyolysis in Addison's disease in a child with autoimmune polyglandular syndrome type 2

2015 ◽  
Vol 62 (10) ◽  
pp. 511-512
Author(s):  
Elena Martín-Campagne ◽  
M. José Ballester-Herrera ◽  
Enrique Palomo-Atance ◽  
Prado Sánchez-Ruiz ◽  
Patricio Giralt-Muiña
Keyword(s):  
Addison’S Disease ◽  
Addison's Disease ◽  
Syndrome Type ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type

scholarly journals Autoimmune polyglandular syndrome type 1: a case report and brief review

2019 ◽  
Vol 9 (3) ◽  
pp. 252-254
Author(s):  
Ifeanyi Nwosu ◽  
Oreoluwa Oladiran ◽  
Chinyere Ogbonna-Nwosu ◽  
Anulika Anyata
Keyword(s):  
Case Report ◽  
Syndrome Type ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type
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