Autoimmune polyglandular syndromes (APS) are characterized by associations of two or more autoimmune diseases (AID). APS type 3 is characterized by the presence of autoimmune thyroid disease associated with other AID, excluding adrenal gland involvement. Here we report a case of a 64-year-old male, with history of type 1 diabetes mellitus (T1DM), diagnosed at the age of 32, who was referred to a Diabetes consultation in 2014 due to poor metabolic control. An optimized intensive insulin regimen with basal insulin glargine and aspart insulin at all meals was implemented. During the investigation, he tested positive for anti-glutamic acid decarboxylase (GAD) 65, anti-islet cell (ICA) and anti-insulin antibodies. In 2019, the patient exhibited achromic spots on the chin, bilateral cervical region, and right hip, and was referred to a dermatology consultation, where he was diagnosed with vitiligo. In a follow-up appointment in 2020, a blood test showed macrocytic anemia with vitamin B12 deficiency. An upper gastrointestinal endoscopy revealed chronic pangastritis. Positive anti-gastric parietal cell antibodies and negative anti-intrinsic factor antibodies led to a diagnosis of chronic autoimmune gastritis, and the patient started monthly injectable vitamin B12 supplementation. Thyroid antibodies were tested to screen for other AID, revealing positive anti-thyroid peroxidase antibodies. The patient had slightly elevated thyrotropin (thyroid-stimulating hormone (TSH)) with normal free thyroxine (FT4), indicating subclinical hypothyroidism that did not require supplementation, and remained under surveillance. Adrenocorticotropic hormone (ACTH) and cortisol levels were normal, ruling out adrenal involvement. This case demonstrates a type 1 diabetic patient additionally diagnosed with vitiligo, chronic autoimmune gastritis, and chronic autoimmune thyroiditis. Excluding adrenal gland involvement, this constitutes a diagnosis of APS3. Type 1 diabetes mellitus alone poses an increased risk of developing other AID, which can be diagnosed in pre-symptomatic stages through the monitoring of specific autoantibodies, highlighting the importance for clinicians to remain vigilant even in the absence of specific symptoms.
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http://dx.doi.org/10.7759/cureus.76152 | DOI Listing |
Neuroinformatics
January 2025
Laboratory for Applied Genomics and Bioinnovations, Instituto Oswaldo Cruz - Fiocruz, Rio de Janeiro, RJ, Brazil.
Multiple sclerosis (MS) is a neurological disease causing myelin and axon damage through inflammatory and autoimmune processes. Despite affecting millions worldwide, understanding its genetic pathways remains limited. The choroid plexus (ChP) has been studied in neurodegenerative processes and diseases like MS due to its dysregulation, yet its role in MS pathophysiology remains unclear.
View Article and Find Full Text PDFRheumatol Int
January 2025
Department of Rheumatology, Clinical Immunology, Geriatrics and Internal Medicine, Medical University of Gdansk, Gdansk, Poland.
Sjogren's disease (SjD) is a chronic and disabling autoimmune disease, predominantly characterized by dryness of the mouth and eyes, resulting from lymphocytic infiltration of exocrine glands. While these are the most prominent symptoms, extra-glandular manifestations are also common. Studies suggest that up to 70% of SjD patients experience neurological symptoms, which interestingly often precede the hallmark dryness.
View Article and Find Full Text PDFPain
December 2024
Palo Alto Veterans Institute for Research, Veterans Affairs Palo Alto Health Care System, Palo Alto, CA, United States.
Previous preclinical and translational studies suggest that tissue trauma related to bony fracture and intervertebral disk disruption initiates the formation of pronociceptive antibodies that support chronic musculoskeletal pain conditions. This study tested this hypothesis in the monosodium iodoacetate (MIA) mouse model of osteoarthritis (OA) and extended the findings using OA patient samples. Monosodium iodoacetate was injected unilaterally into the knees of male and female wild-type (WT) and muMT mice (lacking B cells) to induce articular cartilage damage.
View Article and Find Full Text PDFInt J Rheum Dis
January 2025
Department of Rheumatology, Ankara Bilkent City Hospital, Ankara, Türkiye.
Objective: To investigate the central sensitization (CS) in patients with autoimmune connective tissue diseases (ACTDs) and its relationship with disease activity, laboratory findings, medical treatments, organ involvements, and comorbidity.
Methods: One hundred and eleven patients with ACTDs and 40 healthy individuals were included. All patients were divided into three groups in terms of their diseases: Sjögren's syndrome (SS), rheumatoid arthritis (RA), and systemic lupus erythematosus (SLE).
Front Immunol
January 2025
Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Introduction: Human Cytotoxic-T-lymphocyte-antigen-4 (CTLA-4) insufficiency caused by heterozygous germline mutations in is a complex immune dysregulation and immunodeficiency syndrome presenting with reduced penetrance and variable disease expressivity, suggesting the presence of disease modifiers that trigger the disease onset and severity. Various genetic and non-genetic potential triggers have been analyzed in CTLA-4 insufficiency cohorts, however, none of them have revealed a clear association to the disease. Multiple HLA haplotypes have been positively or negatively associated with various autoimmune diseases and inborn errors of immunity (IEI) due to the relevance of MHC in the strength of the T cell responses.
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