Screening for associated autoimmune disorders in Polish patients with Addison’s disease

Fichna, Marta; Fichna, Piotr; Gryczyńska, Maria; Walkowiak, Jarosław; Żurawek, Magdalena; Sowiński, Jerzy

doi:10.1007/s12020-010-9312-x

Cited by 45 publications

(41 citation statements)

References 69 publications

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“…Autoimmune AD (A-AD) is currently the most common form of adrenal failure in adults (1,7,8,12,13,14,15), while it is less frequent in children where genetic forms, mainly congenital adrenal hyperplasia, are the most common causes (16,17,18).…”

Section: Introductionmentioning

confidence: 99%

Addison's disease: a survey on 633 patients in Padova

Betterle

Scarpa

Garelli

et al. 2013

European Journal of Endocrinology

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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.

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Section: Introductionmentioning

confidence: 99%

Addison's disease: a survey on 633 patients in Padova

Betterle

Scarpa

Garelli

et al. 2013

European Journal of Endocrinology

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“…Comorbidities with some of these diseases exist for alopecia areata [428], [429], vitiligo [430], [430,431], juvenile idiopathic arthritis [432], myasthenia gravis [433], [434], and Addison's disease [435], five additional PTPN22 -associated diseases, as well as celiac disease [436], [437] and pernicious anemia [438], [439]. A link between GD and CAD is potentially confounded by the anti-atherogenic properties of thyroid hormones [440].…”

Section: Resultsmentioning

confidence: 99%

Coherent Somatic Mutation in Autoimmune Disease

Ross

2014

PLoS ONE

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BackgroundMany aspects of autoimmune disease are not well understood, including the specificities of autoimmune targets, and patterns of co-morbidity and cross-heritability across diseases. Prior work has provided evidence that somatic mutation caused by gene conversion and deletion at segmentally duplicated loci is relevant to several diseases. Simple tandem repeat (STR) sequence is highly mutable, both somatically and in the germ-line, and somatic STR mutations are observed under inflammation.ResultsProtein-coding genes spanning STRs having markers of mutability, including germ-line variability, high total length, repeat count and/or repeat similarity, are evaluated in the context of autoimmunity. For the initiation of autoimmune disease, antigens whose autoantibodies are the first observed in a disease, termed primary autoantigens, are informative. Three primary autoantigens, thyroid peroxidase (TPO), phogrin (PTPRN2) and filaggrin (FLG), include STRs that are among the eleven longest STRs spanned by protein-coding genes. This association of primary autoantigens with long STR sequence is highly significant (). Long STRs occur within twenty genes that are associated with sixteen common autoimmune diseases and atherosclerosis. The repeat within the TTC34 gene is an outlier in terms of length and a link with systemic lupus erythematosus is proposed.ConclusionsThe results support the hypothesis that many autoimmune diseases are triggered by immune responses to proteins whose DNA sequence mutates somatically in a coherent, consistent fashion. Other autoimmune diseases may be caused by coherent somatic mutations in immune cells. The coherent somatic mutation hypothesis has the potential to be a comprehensive explanation for the initiation of many autoimmune diseases.

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“…It is most commonly characterised by the presence of 21-hydroxylase autoantibodies, which can be found in 70% of cases of autoimmune PAI. There have been numerous studies confirming high prevalence of other organ-specific autoantibodies in patients with Addison's disease as well as frequent development of other autoimmune disorders in this population [1,2]. Some studies also demonstrate an association between autoimmune hypopituitarism and various autoimmune diseases [3,4].…”

Section: Opis Przypadkumentioning

confidence: 88%

Addison’s disease concomitant with corticotropin deficiency and pituitary CRH resistance — a case report

Lewandowski

Malicka

Dąbrowska

et al. 2017

Endokrynologia Polska

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A 36-year-old woman was found to have a low morning ACTH concentration despite a history of Addison's disease. Past medical history: At the age of 23 years the subject developed Graves's disease, which was treated with radioiodine. At about the same time, she claimed to have two episodes of pancreatitis treated with cholecystectomy. About seven months later she was euthyroid on L-thyroxine (TSH 1.51 mIU/mL) but was admitted with hypotension, hyponatraemia (sodium 109 mmol/L), and low morning cortisol (119 nmol/L StreszczeniePrezentujemy przypadek 36-letniej pacjentki z chorobą Addisona, u której stwierdzono niskie poranne stężenie ACTH. Wywiad chorobowy: w wieku 23 lat pacjentka była poddana radiojodoterapii z powodu choroby Gravesa i Basedowa. Siedem miesięcy póź-niej została przyjęta do szpitala z powodu hipotonii z towarzyszącą hiponatremią (sód 109 mmol/l) i niskim porannym stężeniem kortyzolu (119 nmol/l). Dalsze badania potwierdziły rozpoznanie pierwotnej niewydolności kory nadnerczy. Oznaczone wówczas stężenie ACTH było wysokie i wynosiło 779 pg/ml (N: 0-60 pg/ml). Dziewięć lat później pacjentka została przyjęta do kliniki z powodu znacznego osłabienia. W badaniu przedmiotowym nie obserwowano ciemnego zabarwienia skóry, wartości ciśnienia tętniczego były prawidłowe. BMI wynosiło 22,3 kg/m 2 . Pacjentka miesiączkowała regularnie. W badaniach laboratoryjnych, pomimo bardzo niskiego stężenia kortyzolu (3,37 nmol/l), stwierdzono zaskakująco niskie stężenie ACTH (8,53 pg/ml, N: 0-46 pg/ml). W badaniu RM przysadki nie stwierdzono nieprawidłowości. W teście z hipoglikemią poinsulinową uzyskano znaczny wzrost stężenia ACTH (z 15,2 do 165 pg/ml). Natomiast w teście stymulacji z CRH wzrost stężenia ACTH był nieznamienny (z 6,05 pg/ml do 10,2 pg/ml). Wyniki te wskazywały na centralną oporność na CRH. W podsumowaniu, u pacjentki z wcześniej rozpoznaną chorobą Addisona rozwinęła się wtórna niewydolność kory nadnerczy. Brak wzrostu stężeń ACTH w teście stymulacji z CRH u tej chorej, przy zachowanej prawidłowej odpowiedzi przysadki w warunkach hipoglikemii, potwierdza, że poza CRH również inne czynniki są odpowiedzialne za pobudzenie wydzielania ACTH i kortyzolu w teście hipoglikemii poinsulinowej. (Endokrynol Pol 2017; 68 (4): 468-471) Słowa kluczowe: niewydolność kory nadnerczy, choroba Addisona, przysadka

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Screening for associated autoimmune disorders in Polish patients with Addison’s disease

Cited by 45 publications

References 69 publications

Addison's disease: a survey on 633 patients in Padova

Addison's disease: a survey on 633 patients in Padova

Coherent Somatic Mutation in Autoimmune Disease

Addison’s disease concomitant with corticotropin deficiency and pituitary CRH resistance — a case report

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