Multiple autoimmune syndrome: Clinical, immunological and genotypic characterization

Fidalgo, Mariana; Faria, Raquel; Carvalho, Cláudia; Carvalheiras, Graziela; Mendonça, Denisa; Farinha, Fátima; Silva, Ana Martins; Vasconcelos, Carlos

doi:10.1016/j.ejim.2023.06.020

Cited by 4 publications

(3 citation statements)

References 70 publications

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“…proposed the genetic background hypothesis, highlighting the HLA-DRB1*03 gene as a significant risk factor [14]. In patients with MAS, it is common to have at least one dermatological condition, usually vitiligo or alopecia areata.…”

Section: Discussionmentioning

confidence: 99%

Lichen Planopilaris As Part of Multiple Autoimmune Syndrome: A Case Report of New Association

Hamad,

Alamin,

Alotaibi

2024

Cureus

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Lichen planopilaris (LPP) is an uncommon inflammatory scalp condition. Its typical clinical presentation includes scaly, erythematous plaques resulting in irreversible alopecia. In this study, we report a female in her late 30s with hypothyroidism and Crohn's disease. She presented with gradual, localized hair loss that had been ongoing for the past four months. A thorough physical examination, and complemented by dermoscopic evaluation, confirmed the diagnosis of LPP. Individuals who have an autoimmune disease (AID) have a heightened propensity to develop additional AID. The coexistence of three or more AIDs falls under the definition of multiple autoimmune syndrome (MAS). This is the first case, to the best of our knowledge, of LPP being associated with MAS.

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Section: Discussionmentioning

confidence: 99%

Lichen Planopilaris As Part of Multiple Autoimmune Syndrome: A Case Report of New Association

Hamad,

Alamin,

Alotaibi

2024

Cureus

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“…The mosaic of autoimmunity exhibits multi-factorial origin, and the diversity of autoimmune disease (AD) expression is frequently identified using classification criteria. They have sub-phenotypic similarities, such as signs and symptoms, non-specific autoantibodies, and other immunological alterations that are subject to categorization issues [ 2 ]. One of the strongest arguments supporting autoimmune tautology is polyautoimmunity, defined as the presence of two or more ADs in a single patient.…”

Section: Introductionmentioning

confidence: 99%

“…Some researchers believe that the presence of polyautoimmunity exacerbates the manifestation of a specific AD, leading to a more severe clinical outcome, whereas others believe that it does not exert any substantial influence or may, in fact, result in a more favorable prognosis for individuals with ADs. Due to their chronic nature, these ADs place a substantial strain on both social and medical resources, while also affecting the overall quality of life [ 2 ]. The capacity to diagnose the onset of these illnesses in the pre-symptomatic phase and to forecast their progression would mark a significant advancement in primary, secondary, and tertiary prevention [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

The Kaleidoscope of Polyautoimmunity: An Odyssey of Diagnostic Dilemmas

Tripathi,

Bhushan,

Banerjee

et al. 2024

Cureus

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Diagnostic accuracy is of the utmost importance, both in the clinical setting and for research purposes. Mixed connective tissue disease (MCTD), rheumatoid arthritis (RA), Sjogren's syndrome (SS), and overlap syndrome (OS) frequently exhibit symptoms that mimic those of other conditions. Unfortunately, there is no singular definitive test for diagnosing these connective tissue diseases (CTDs), necessitating the reliance on expert opinions. Further complicating the matter, these diseases have overlapping clinical and serological features, and some individuals with one autoimmune disease may develop additional autoimmune disorders, either concurrently or at a later stage of their ailment. Autoimmune diseases (ADs) may manifest as a single AD or, concurrently with other ADs, a condition named polyautoimmunity (polyA). Polyautoimmunity refers to the presence of numerous autoimmune disorders in a single patient. Multiple autoimmune syndrome (MAS) is a condition that occurs when three or more autoimmune illnesses coexist. Moreover, the coexistence of two or more ADs with classification criteria is named “overt polyA," whereas the presence of autoantibodies not related to the index AD, without criteria fulfillment, is termed “latent polyA." Furthermore, both conditions can exist simultaneously within an individual patient. This case report's findings underscore that patients exhibiting both latent and overt polyautoimmunity tend to group, exhibiting distinct clinical and immunological characteristics. Additionally, CTDs not only have overlapping features amongst their various subclasses but also tend to mimic other conditions due to an underlying chronic inflammatory state. This case study also attempts to highlight the diagnostic dilemmas faced in such situations.

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A case of multiple autoimmune syndrome comprising autoimmune thyroid disease, vitiligo, morphea, and lichen sclerosus

Gašper,

Breznik

2024

Acta Dermatovenerologica Alpina Pannonica Et Adriatica

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IntroductionAutoimmune diseases (ADs) are a heterogeneous pathology characterized by abnormalities in both humoral and cell-mediated immunity, resulting in their assault on normal bodily constituents, which leads to inflammation, cell injury, or a dysfunction with clinical manifestations in specific target organs (1). Historically perceived as rare, epidemiological revelations over the last two decades, particularly in Western countries, show a rise in the global prevalence of ADs (2-4). A recently published British population-based study highlights this trend, indicating that ADs afflict nearly 10% of the population, with an average age of onset at 54 years and a female predilection (2:1) (5). Predominant among these diseases are autoimmune thyroid disorders and type 1 diabetes, followed by systemic lupus erythematosus, rheumatoid arthritis, psoriasis, multiple sclerosis, celiac disease, and inflammatory bowel diseases (3,6). Globally, Graves' disease, celiac disease, and rheumatic disorders have witnessed the most substantial increases in incidence (5). Autoimmune skin disorders, comprising vitiligo, psoriasis, alopecia areata, bullous diseases, and systemic lupus erythematosus, have similarly experienced an escalating path (7). With genetic factors remaining constant, detailed scrutiny has shifted toward exploring environmental influences as potential contributors to the increasing prevalence of ADs. Ongoing evidence points to significant alterations in diet, xenobiotics, air quality, infections, personal lifestyles, stress, and climate change as factors precipitating the surge in AD incidence (8).Polyautoimmunity (PAI) is defined as the presence of more than one AD in an individual. PAI can be overt (fulfilling clinical criteria) or latent (presence of unrelated autoantibodies without clinical criteria fulfilment of the AD), and it can affect one or more organ systems. Various ADs tend to cluster together in specific patterns, suggesting shared genetic susceptibility traits (5). However, the clinical relevance within these clusters of ADs remains unclear (particularly in terms of management and outcome). PAI occurs in 25% to 34% of individuals with ADs, and familial autoimmunity, especially in females, is a predisposing factor for PAI. The observed female predilection is attributed to hormonal fluctuations and genetic disparities-both

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Multiple autoimmune syndrome: Clinical, immunological and genotypic characterization

Cited by 4 publications

References 70 publications

Lichen Planopilaris As Part of Multiple Autoimmune Syndrome: A Case Report of New Association

Lichen Planopilaris As Part of Multiple Autoimmune Syndrome: A Case Report of New Association

The Kaleidoscope of Polyautoimmunity: An Odyssey of Diagnostic Dilemmas

A case of multiple autoimmune syndrome comprising autoimmune thyroid disease, vitiligo, morphea, and lichen sclerosus

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