Autoimmune Hepatitis as a Part of Polyglandular Autoimmune Syndrome Type II: Case Report and Literature Review

Patel, Trushar; Nystrom, Jacquelyn; Pyrsopoulos, Nikolaos

doi:10.1007/s10620-009-0796-2

Cited by 5 publications

(3 citation statements)

References 14 publications

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“…Die histologischen Veränderun-gen sind ähnlich wie in den isolierten Formen der Autoimmunhepatitis beschrieben. Betroffene mit für eine Autoimmunhepatitis typischen Histologie aber "unüblichem" serologischem Markerprofil und/oder anamnestisch bekannten weiteren Autoimmunmanifestationen sollten auf die Möglichkeit einer Autoimmunhepatitis im Rahmen eines PGAS hingewiesen werden [21].…”

Section: Histologische Veränderungen Bei Pgasunclassified

Polyglanduläre autoimmune Syndrome

Komminoth

2016

Pathologe

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Polyglandular autoimmune syndromes (PGAS), also known as autoimmune polyendocrinopathy syndromes (APS), are a heterogeneous group of rare, genetically caused diseases of the immune system which lead to inflammatory damage of various endocrine glands resulting in malfunctions. In addition, autoimmune diseases of non-endocrine organs may also be found. Early diagnosis of PGAS is often overlooked because of heterogeneous symptoms and the progressive occurrence of the individual diseases. The two most important forms of PGAS are the juvenile and adult types. The juvenile type (PGAS type 1) is caused by mutations in the autoimmune regulator (AIRE) gene on chromosome 21, exhibits geographic variations in incidence and is defined by the combination of mucocutaneous candidiasis, Addison's disease and hypoparathyroidism. In addition, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome and other autoimmune diseases can also occur. The adult form of PGAS (PGAS type 2) is a multigenetic disorder associated with some HLA haplotypes, is more common than the juvenile type, shows female predominance and exhibits the combination of type 1 diabetes, autoimmune thyroid disease, Addison's disease and other autoimmune disorders. The histological alterations in affected organs of PGAS patients are similar to findings in sporadically occurring autoimmune diseases of these organs but there are no pathognomic fine tissue findings. If patients exhibit autoimmune changes in two different endocrine glands or if there are indications of several autoimmune disorders from the patient history, it is important to consider PGAS and inform the clinicians of this suspicion.

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Section: Histologische Veränderungen Bei Pgasunclassified

Polyglanduläre autoimmune Syndrome

Komminoth

2016

Pathologe

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“…APS2 is associated with other autoimmune conditions such as pernicious anemia, alopecia areata, alopecia universalis, vitiligo, autoimmune hepatitis, celiac disease, and primary gonadal failure. 3,[7][8][9] Alopecia universalis in particular is seen in only 1-4% of APS2. 8 Cases of APS2 are characterized by multiple presentations to care before a diagnosis is made and delay in treatment as patients tend to present with non-specific symptoms, including fatigue, weight loss, and anorexia.…”

Section: Introductionmentioning

confidence: 99%

A Case of Autoimmune Polyglandular Syndrome Type 2 Presenting as Dyspnea

Moshynskyy

Caspar-Bell

2021

Can Journ Gen Int Med

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We will discuss the case of a 17-year-old male who initially presented to care with shortness of breath on exertion. His symptoms progressed over 7 months to include general weakness, anorexia, and malaise. He presented again to care with tachycardia and hypotension. A combination of dermatological manifestations of autoimmune disease, extensive family history of autoimmune disease, and electrolyte abnormalities prompted a bedside thyroid ultrasound, which led to investigation for thyroid disease. Hormone and antibody testing confirmed the diagnosis of autoimmune polyglandular syndrome type 2 (APS2), and he was successfully treated with levothyroxine, hydrocortisone, and fludrocortisone replacement. We present a case of APS2 in an unusual patient population, with a seldom reported initial manifestation. We will discuss diagnostic clues, investigations, management, and further monitoring of APS2. ResumeNous aborderons le cas d’un adolescent de 17 ans qui a d’abord consulté pour un essoufflement à l’effort. Ses symptômes ont évolué sur une période de sept mois et comprennent une faiblesse générale, une anorexie et un malaise. Puis, il a consulté de nouveau pour une tachycardie et une hypotension. Une combinaison de signes dermatologiques de maladie auto-immune, d’antécédents familiaux importants de maladie auto-immune et d’anomalies électrolytiques a conduit à la réalisation d’une échographie de la thyroïde au chevet du patient, ce qui a mené à la recherche d’une maladie thyroïdienne. Le dosage des hormones et le dépistage d’anticorps ont confirmé le diagnostic de polyendocrinopathie auto-immune de type 2 (PEA2), et il a été traité avec suc-cès par la lévothyroxine, l’hydrocortisone et la fludrocortisone de remplacement. Nous présentons un cas de PEA2 chez une population de patients inhabituelle, une manifestation initiale y étant rarement rapportée. Nous aborderons les pistes de diagnostic, les examens, la prise en charge et la surveillance accrue de la PEA2.

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“…Although the exact etiology is unknown, it is often associated with elevated immune markers and seen in the setting of other autoimmune disorders such as rheumatoid arthritis, Graves's disease, Sjogren's syndrome and lupus 1,2 . The onset of AIH is thought to be an immunological cell mediated process triggered by several potential factors including viral prodromes, chemical agents and even genetic predisposition.…”

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confidence: 99%