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Middle East Journal of Digestive... Oct 2023Celiac disease is an autoimmune disorder resulting from gluten consumption in genetically predisposed individuals. The present study investigated the epidemiological,...
Celiac disease is an autoimmune disorder resulting from gluten consumption in genetically predisposed individuals. The present study investigated the epidemiological, endoscopic, and clinicopathological features of patients with celiac disease in the southern littoral of the Caspian Sea. 140 patients with celiac disease were interviewed and examined regarding demographic characteristics, clinical symptoms, and serologic, endoscopic, and pathological findings. 44 (31.4%) of the patients were male and 68.6% were female. The mean age of the patients at diagnosis was 27.13±13.4 years (ranging from 2 to 60 years). The most common gastrointestinal (GI) symptoms were bloating (47.8%), abdominal pain (47.1%) and diarrhea (30.7%), respectively. Also, 17 (12.1%) patients did not complain of any GI symptoms.18 (12.8%) patients had aphthous stomatitis, 10.7% had dermatitis herpetiformis, 3.6% suffered from itching without a rash, two (1.4%) mentioned psoriasis and one (0.7%) had lichen planus. 19 (19.7%) of the female patients complained of menstrual bleeding disorders, 4% mentioned infertility, and 2% experienced primary amenorrhea. The most common comorbid condition was hypothyroidism in 16 (11.4%) patients. The most common endoscopic finding was duodenal scalloping (37.25%). In addition, 7.8% of the patients had a normal endoscopic appearance. 43 (30.7%) patients were classified as Marsh IIIC, 25.7% Marsh IIIB, 17.8% Marsh IIIA, 12.8% Marsh II and 12.8% were classified as Marsh I. Since celiac disease can present with non-GI manifestations and the majority of our patients had Marsh III classification, it seems that celiac disease must be considered as a routine screening test in GI clinics, and also, it should be kept in mind as a differential diagnosis in other specialty fields.
PubMed: 38523893
DOI: 10.34172/mejdd.2023.355 -
JAAD Case Reports Apr 2024
PubMed: 38510834
DOI: 10.1016/j.jdcr.2024.01.004 -
Advanced Science (Weinheim,... Jun 2024
PubMed: 38477397
DOI: 10.1002/advs.202400894 -
European Journal of Dermatology : EJD Dec 2023
Topics: Humans; Pregnancy; Female; Impetigo; Skin Diseases, Vesiculobullous; Pregnancy Complications, Infectious; Adrenal Cortex Hormones; Dermatitis Herpetiformis; Pregnancy Complications; Psoriasis; Antibodies, Monoclonal, Humanized
PubMed: 38465566
DOI: 10.1684/ejd.2023.4620 -
Gastroenterology Jun 2024Celiac disease (CeD) is a chronic immune-mediated condition triggered by gluten consumption in genetically predisposed individuals. Approximately 1% of the general... (Review)
Review
Celiac disease (CeD) is a chronic immune-mediated condition triggered by gluten consumption in genetically predisposed individuals. Approximately 1% of the general population is affected by the disorder. Disease presentation is heterogeneous and, despite growing awareness among physicians and the public, it continues to be underestimated. The most effective strategy for identifying undiagnosed CeD is proactive case finding through serologic testing in high-risk groups. We reviewed the most recent evidence on the association between CeD and more than 20 conditions. In light of this review, CeD screening is recommended in individuals with (1) autoimmune disease and accompanying symptoms suggestive of CeD; (2) diseases that may mimic CeD (eg, irritable bowel syndrome [IBS], inflammatory bowel disease [IBD], and microscopic colitis); and (3) among patients with conditions with a high CeD prevalence: first-degree relatives, idiopathic pancreatitis, unexplained liver enzyme abnormalities, autoimmune hepatitis, primary biliary cholangitis, hyposplenism or functional asplenia with severe bacterial infection, type 1 diabetes mellitus, Hashimoto's thyroiditis and Graves' disease, Sjögren's syndrome, dermatitis herpetiformis, recurrent aphthous syndrome and enamel defects, unexplained ataxia, peripheral neuropathy, delayed menarche or premature menopause, Down syndrome, Turner syndrome, Williams syndrome, chronic fatigue syndrome, IgA nephropathy, and IgA deficiency. CeD serology should be the initial step in the screening process. However, for patients with any of the aforementioned disorders who are undergoing upper endoscopy, biopsies should be performed to rule out CeD.
Topics: Humans; Celiac Disease; Autoimmune Diseases; Diagnosis, Differential; Inflammatory Bowel Diseases; Serologic Tests; Risk Factors; Prevalence; Genetic Predisposition to Disease
PubMed: 38460606
DOI: 10.1053/j.gastro.2024.02.044 -
Dermatology and Therapy Mar 2024Vulvar lichen sclerosus (VLS) is a chronic inflammatory condition affecting the anogenital region, which can manifest in prepubertal or adolescent patients. The...
INTRODUCTION
Vulvar lichen sclerosus (VLS) is a chronic inflammatory condition affecting the anogenital region, which can manifest in prepubertal or adolescent patients. The prevailing theories point to autoimmune and genetic factors. The primary symptoms of VLS typically include vulvar itching, discomfort, dysuria, and constipation. Physical examination often reveals a characteristic figure 8 pattern, involving the labia minora, clitoral hood, and perianal region. However, these symptoms and the age of onset are nonspecific and require differentiation from autoimmune dermatoses such as bullous diseases, pemphigus diseases, epidermolysis bullosa acquisita, and dermatitis herpetiformis. We performed this study to distinguish VLS from autoimmune dermatoses, and in doing so, uncover the underlying causes of chronic vulvar changes. This knowledge will enable healthcare providers to offer appropriate medical care to affected patients.
METHODS
The study was conducted between July 2020 and February 2021, with a sample of 55 girls aged 2-18 years who did not have any systemic diseases. The study group was composed of 20 girls previously diagnosed with vulvar lichen sclerosus, while the control group included 35 girls without VLS. Questionnaires regarding the medical history of the children were completed by their legal guardians. Blood samples were collected and analyzed biochemically to assess human immunoglobulin A (IgA), IgG, and IgM antibodies against various substrates, including the desmosome of stratum spinosum, basement membrane zone, desmoglein 1 (DSG1), desmoglein 3 (DSG3), BP180-NC16A-4X, BP230gC, pemphigoid antigen, collagen type VII NC1, transitional epithelium, gliadin (GAF-3X), endomysium (EMA), and cellular nucleus (ANA).
RESULTS
The analysis of the study group revealed that the most commonly observed signs and symptoms included: itching, soreness, burning sensations, and excoriation, as well as erythema or/and pallor of the skin and perineal mucosa. Among the assessed antibodies, only anti-GAF3x antibodies and ANA antibodies were detected. However, the results did not reach statistical significance (p > 0.5).
PubMed: 38451422
DOI: 10.1007/s13555-024-01124-0 -
Italian Journal of Dermatology and... Feb 2024The oral mucosa can be involved in a wide variety of mucocutaneous conditions that may present primarily in the mouth or affect other cutaneous or mucosal sites. Many of... (Review)
Review
The oral mucosa can be involved in a wide variety of mucocutaneous conditions that may present primarily in the mouth or affect other cutaneous or mucosal sites. Many of these conditions are immune mediated and typically present as inflammatory mucosal pathology. Patients experiencing such conditions usually seek medical evaluation and treatment due to the associated pain and discomfort, and occasionally taste disturbance or dysphagia and the overall deterioration in the oral health-related quality of life. These conditions share some common features and there could be some overlap in their clinical presentation, which can lead to delays in diagnosis and proper management of patients. Clinicians dealing with such disorders, including dermatologists, need to be aware of the oral manifestations of mucocutaneous conditions, their clinical features, underlying mechanisms, diagnostic approaches, and treatment options, as well as the recent advances in the research on these conditions. This review provides a comprehensive, evidence-based reference for clinicians, with updated insights into a group of immune mediated conditions known to cause oral mucosal pathology. Part one will cover oral lichen planus, erythema multiforme and systemic lupus erythematosus, while part two will cover recurrent aphthous stomatitis, pemphigus vulgaris and mucous membrane pemphigoid, in addition to the less common disorders linear IgA disease, dermatitis herpetiformis and epidermolysis bullosa.
Topics: Humans; Mouth Mucosa; Mouth Diseases; Quality of Life; Pemphigus; Stomatitis, Aphthous
PubMed: 38345290
DOI: 10.23736/S2784-8671.23.07690-9 -
MedRxiv : the Preprint Server For... Jan 2024To examine whether genetically predicted susceptibility to ten autoimmune diseases (Behçet's disease, coeliac disease, dermatitis herpetiformis, lupus, psoriasis,...
OBJECTIVE
To examine whether genetically predicted susceptibility to ten autoimmune diseases (Behçet's disease, coeliac disease, dermatitis herpetiformis, lupus, psoriasis, rheumatoid arthritis, sarcoidosis, Sjögren's syndrome, systemic sclerosis, and type 1 diabetes) is associated with risk of non-Hodgkin lymphoma (NHL).
DESIGN
Two sample Mendelian randomization (MR) study.
SETTING
Genome wide association studies (GWASs) of ten autoimmune diseases, NHL, and four NHL subtypes (i.e., follicular lymphoma, mature T/natural killer-cell lymphomas, non-follicular lymphoma, and other and unspecified types of NHL).
ANALYSIS
We used data from the largest publicly available GWASs of European ancestry for each autoimmune disease, NHL, and NHL subtypes. For each autoimmune disease, we extracted single nucleotide polymorphisms (SNPs) strongly associated ( < 5×10) with that disease and that were independent of one another (R < 1×10) as genetic instruments. SNPs within the human leukocyte antigen region were not considered due to potential pleiotropy. Our primary MR analysis was the inverse-variance weighted analysis. Additionally, we conducted MR-Egger, weighted mode, and weighted median regression to address potential bias due to pleiotropy, and robust adjusted profile scores to address weak instrument bias. We carried out sensitivity analysis limited to the non-immune pathway for nominally significant findings. To account for multiple testing, we set the thresholds for statistical significance at < 5×10.
PARTICIPANTS
The number of cases and controls identified in the relevant GWASs were 437 and 3,325 for Behçet's disease, 4,918 and 5,684 for coeliac disease, 435 and 341,188 for dermatitis herpetiformis, 4,576 and 8,039 for lupus, 11,988 and 275,335 for psoriasis, 22,350 and 74,823 for rheumatoid arthritis, 3,597 and 337,121 for sarcoidosis, 2,735 and 332,115 for Sjögren's syndrome, 9,095 and 17,584 for systemic sclerosis, 18,942 and 501,638 for type 1 diabetes, 2,400 and 410,350 for NHL; and 296 to 2,340 cases and 271,463 controls for NHL subtypes.
EXPOSURES
Genetic variants predicting ten autoimmune diseases: Behçet's disease, coeliac disease, dermatitis herpetiformis, lupus, psoriasis, rheumatoid arthritis, sarcoidosis, Sjögren's syndrome, systemic sclerosis, and type 1 diabetes.
MAIN OUTCOME MEASURES
Estimated associations between genetically predicted susceptibility to ten autoimmune diseases and the risk of NHL.
RESULTS
The variance of each autoimmune disease explained by the SNPs ranged from 0.3% to 3.1%. Negative associations between type 1 diabetes and sarcoidosis and the risk of NHL were observed (odds ratio [OR] 0.95, 95% confidence interval [CI]: 0.92 to 0.98, = 5×10, and OR 0.92, 95% CI: 0.85 to 0.99, = 2.8×10, respectively). These findings were supported by the sensitivity analyses accounting for potential pleiotropy and weak instrument bias. No significant associations were found between the other eight autoimmune diseases and NHL risk. Of the NHL subtypes, type 1 diabetes was most strongly associated with follicular lymphoma (OR 0.91, 95% CI: 0.86 to 0.96, = 1×10), while sarcoidosis was most strongly associated with other and unspecified NHL (OR 0.86, 95% CI: 0.75 to 0.97, = 1.8×10).
CONCLUSIONS
These findings suggest that genetically predicted susceptibility to type 1 diabetes, and to some extent sarcoidosis, might reduce the risk of NHL. However, future studies with different datasets, approaches, and populations are warranted to further examine the potential associations between these autoimmune diseases and the risk of NHL.
PubMed: 38343812
DOI: 10.1101/2024.01.20.24301459 -
Nutrients Jan 2024Dermatitis herpetiformis is a cutaneous manifestation of celiac disease. Phenotyping of intraepithelial lymphocytes in the small bowel mucosa can strengthen the...
Dermatitis herpetiformis is a cutaneous manifestation of celiac disease. Phenotyping of intraepithelial lymphocytes in the small bowel mucosa can strengthen the diagnosis of celiac disease when it is not clear-cut. We aim to evaluate the usefulness of the intraepithelial lymphogram to confirm dermatitis herpetiformis in equivocal cases. We performed a retrospective multicenter study on patients diagnosed with dermatitis herpetiformis and collected data from the intraepithelial lymphogram assessed by flow cytometry. A total of 36 patients were analyzed in relation to the severity of intestinal damage (18 had non-atrophic mucosa) at baseline (N = 28) and/or after the adoption of a gluten-free diet (median follow-up of three years, N = 16). We observed that patients with atrophy more often had positive celiac serology ( = 0.019), celiac clinical symptoms ( = 0.018), and iron-deficiency anemia ( = 0.018), but the severity of skin damage was similar in both groups ( = 0.79). At baseline, increased TCRγδ cells were present in 94% of patients with atrophy and 67% with non-atrophic lesions ( = 0.13). After a gluten-free diet, increased TCRγδ cells persisted in 100% and 63% of cases, respectively ( = 0.21). We concluded that increased TCRγδ cells may be helpful in confirming the diagnosis of dermatitis herpetiformis in equivocal cases, even in patients who were started on a gluten-free diet.
Topics: Humans; Anemia, Iron-Deficiency; Atrophy; Celiac Disease; Data Collection; Dermatitis Herpetiformis; Retrospective Studies
PubMed: 38257124
DOI: 10.3390/nu16020232