Coexistence Of Autoimmune Diseases Research Articles

Janus kinase inhibitors and the changing landscape of vitiligo management: a scoping review.

Vitiligo is a chronic skin condition caused by an autoimmune response that results in the progressive loss of melanocytes and recent studies have suggested that Janus kinase inhibitors (JAKi) are emerging as a promising new treatment modality. Therefore, to assess and understand the extent of knowledge in the emerging field of JAKi use in vitiligo, a scoping review of the literature was undertaken. The reviewed articles explored a wide variety of JAKi administered either orally or topically for vitiligo. There were no injectable JAKi studied. Tofacitinib was the most commonly studied oral JAKi in 16 of the 35 studies selected for review, followed by baricitinib (n = 3), and one study each with ritlecitinib, ruxolitinib, and upadacitinib. Ruxolitinib (n = 6) and tofacitinib (n = 6) were the most often studied topical JAKi, followed by delgocitinib (n = 1). Potential benefits may vary between JAKi based on their receptor selectivity profile and coexistent autoimmune diseases. A topical JAKi would be advantageous in limited body area involvement and in adolescents. Concurrent use of JAKi with phototherapy or sun exposure appears beneficial. Most studies permitted the use of other topical agents. Acne-related events, though frequent yet mild, were reported with both oral and topical JAKi. Nasopharyngitis, upper respiratory tract infections, and headaches were the most common adverse effects seen in the larger trials with JAKi. No serious or clinically meaningful hematology or thromboembolic events were detected. Treatment of vitiligo with oral or topical JAKi seems to be promising and the growing evidence shows a favorable risk-benefit profile.

Long-Term Effects and Prognosis Following Suction Blister Epidermal Grafting in Vitiligo Patients.

Suction blister epidermal grafting (SBEG) is currently one of the most prevalent surgical methods for stable vitiligo. To investigate the long-term outcomes of vitiligo patients who underwent SBEG and to explore risk factors associated with postoperative relapse. A retrospective cohort study was conducted in patients who underwent SBEG in our department between January 2016 and December 2022. Treatment outcomes, including repigmentation rate, adverse events, and postoperative relapse, were surveyed via telephone interview or out-=patient visit. Multivariate logistic regression models were used to assess the potential risk factors for postoperative relapse. Statistical significance was assumed at P < .05. A total of 253 patients were included with a repigmentation rate of 96% (243/253) after grafting. Common adverse events included cobblestone-like appearance (73.1%, 185/253) in the donor site, perigraft halo (46.2%, 117/253), and cobblestone-like appearance (26.1%, 66/253) in the recipient site. Postoperative relapse occurred in 20.1% of patients over a mean time of 29.7 months after grafting. Nonsegmental type of vitiligo and coexistence of autoimmune diseases were risk factors for postoperative relapse. SBEG is an effective surgical treatment for vitiligo with high repigmentation rate and good safety profile. Nonsegmental vitiligo and comorbid autoimmune diseases may increase the risk of postoperative relapse.

Case report: Glycaemic management and pregnancy outcomes in a woman with an insulin receptor mutation, p.Met1180Lys

BackgroundHeterozygous insulin receptor mutations (INSR) are associated with insulin resistance, hyperglycaemia and hyperinsulinaemic hypoglycaemia in addition to hyperandrogenism and oligomenorrhoea in women. Numerous autosomal dominant heterozygous mutations involving the INSR β-subunit tyrosine kinase domain resulting in type A insulin resistance have been previously described. We describe the phenotype, obstetric management and neonatal outcomes in a woman with type A insulin resistance caused by a mutation in the β-subunit of the INSR.Case presentationWe describe a woman with a p.Met1180Lys mutation who presents with hirsutism, oligomenorrhoea and diabetes at age 20. She has autoimmune thyroid disease, Coeliac disease and positive GAD antibodies. She is overweight with no features of acanthosis nigricans and is treated with metformin. She had 11 pregnancies treated with insulin monotherapy (n = 2) or combined metformin and insulin therapy (n = 9). The maximum insulin dose requirement was 134 units/day or 1.68 units/kg/day late in the second pregnancy. Mean birthweight was on the 37th centile in INSR positive offspring (n = 3) and the 94th centile in INSR negative offspring (n = 1).ConclusionThe p.Met1180Lys mutation results in a phenotype of diabetes, hirsutism and oligomenorrhoea. This woman had co-existent autoimmune disease. Her insulin dose requirements during pregnancy were similar to doses observed in women with type 2 diabetes. Metformin may be used to improve insulin sensitivity in women with this mutation. Offspring inheriting the mutation tended to be smaller for gestational age.

Insights into Presentation and Outcomes of Localized Immunoglobulin Light Chain Amyloidosis: A 12-Year Experience of a Large Academic Center

Introduction : Localized immunoglobulin light chain amyloidosis (Loc-AL) is an ultra-rare disease caused by the local deposition of misfolded AL fibrils. To date, limited data exists on reporting patterns of disease presentation and long-term outcomes. The primary aim of this study is to describe our institution's experience of patients with Loc-AL, including disease presentation, management, and risk for local and systemic progression. Methods: We retrospectively analyzed medical records of 3108 patients with amyloidosis and selected 141 (5%) patients with biopsy proven Loc-AL treated at our institution between 1/1/2010 and 7/1/2023. Patients with evidence of systemic AL disease involving the bone marrow and/or major organs, such as heart, kidney, liver, and nervous system on initial assessment were excluded. AL amyloid typing was available in all cases; mass spectrometry was performed in 85 (60%) cases. Chi-squared test and Kaplan-Meier method were used for statistical analysis. Results: Of the 141 patients with Loc-AL included in this analysis, 79 (56%) were female and 117 (83%) were White. The median age at diagnosis was 67 (range 18-92) years. The sites of involvement included: 22% lower respiratory system (16% lung/pleura, 4% tracheobronchial system, 2% multi-site), 18% gastrointestinal system (8% upper GI [esophagus, stomach, duodenum] tract, 9% lower GI [colon, rectum] tract, and 1% other), 18% head &amp; neck (eye [conjunctiva, lacrimal sac], auditory canal, oral cavity, pharynx/oropharynx), 9% urothelial system (prostate, bladder, ureteral, urethra), 9% soft tissue, 7% skin, 7% breast, 4% upper respiratory system (vocal cords, larynx, subglottic area), and 6% others (including two cases of central nervous system involvement) (Figure 1). At presentation, 75 (53%) patients were symptomatic, whereas in the remaining 65 (47%) patients Loc-AL was an incidental finding. Bone marrow biopsy, fat pad biopsy and cardiac imaging (echocardiogram and/or cardiac MRI) were obtained in 67 (48%), 20 (14%) and 105 (74%) patients, respectively. All bone marrow and pad biopsies were negative for AL amyloid; in addition, no bone marrow biopsy revealed monoclonal plasma cells. A serum monoclonal protein (sMP) was detected in only 29 (20%) patients, 12 of whom had serum light chain different from the localized light chain type. Of the 29 patients with positive sMP, 20 had IgG isotype, 6 had IgM, 2 IgA and 1 had light chains only. Abnormal free light chain ratio was reported in 17 (12%) patients, 6 of whom had a positive sMP. Twenty-four (17%) patients had coexistent autoimmune disease and 13 (9%) co-existent malignancy that was not plasma cell related. First line management approaches included: observation with or without supportive care (57%), surgical resection (38%), radiotherapy (2%), systemic therapy (3.5% chemotherapy, 3.5% steroids) and topical therapy (3.5%). Of the 5 patients who received chemotherapy, 4 had plasma cell-directed therapy; of them, 3 maintained stable disease based on follow-up imaging and 1 had no response. The fifth patient received rituximab for their underlying MALT lymphoma. Seventeen patients (12%) required repeated interventions (median 1 [range 1-4]) for local disease progression. The most common sites requiring repeated interventions were: genitourinary system (29%), respiratory system (24%) and breast (18%). No patient progressed to systemic AL. There were no deaths attributed to Loc-AL. The median follow-up time was 46.7 months. The 2- and 5-year local progression free survival rates were 93%, and 78%, respectively, and there was no difference with regard to site of disease. The estimated median overall survival (OS) was not reached; the 2- and 5-year OS rates were 99% and 92%, respectively (Figure 2). Conclusion: The results of our study suggest thatLoc-AL has an excellent prognosis, and does not progress to systemic AL disease. A significant number of patients have no symptoms at diagnosis. Observation and/or surgical removal are usually adequate initial approaches to manage Loc-AL, however, a small percentage of patients can relapse locally requiring repeated interventions for symptom control. Consultation with a hematologist is important to rule out systemic disease.

Clinical features of myasthenia gravis with neurological and systemic autoimmune diseases.

Multiple reports on the co-existence of autoimmune diseases and myasthenia gravis (MG) have raised considerable concern. Therefore, we reviewed autoimmune diseases in MG to explore their clinical presentations and determine whether the presence of autoimmune diseases affects the disease severity and treatment strategies for MG. We reviewed all the major immune-mediated coexisting autoimmune conditions associated with MG. PubMed, Embase and Web of Science were searched for relevant studies from their inception to January 2023. There is a higher frequency of concomitant autoimmune diseases in patients with MG than in the general population with a marked risk in women. Most autoimmune comorbidities are linked to AChR-MG; however, there are few reports of MuSK-MG. Thyroid disorders, systemic lupus erythematosus, and vitiligo are the most common system autoimmune diseases associated with MG. In addition, MG can coexist with neurological autoimmune diseases, such as neuromyelitis optica (NMO), inflammatory myopathy (IM), multiple sclerosis (MS), and autoimmune encephalitis (AE), with NMO being the most common. Autoimmune diseases appear to develop more often in early-onset MG (EOMG). MS coexists more commonly with EOMG, while IM coexists with LOMG. In addition, MG complicated by autoimmune diseases tends to have mild clinical manifestations, and the coexistence of autoimmune diseases does not influence the clinical course of MG. The clinical course of neurological autoimmune diseases is typically severe. Autoimmune diseases occur most often after MG or as a combined abnormality; therefore, timely thymectomy followed by immunotherapy could be effective. In addition, thymoma-associated AChR MG is associated with an increased risk of AE and IM, whereas NMO and MS are associated with thymic hyperplasia. The co-occurrence of MG and autoimmune diseases could be attributed to similar immunological mechanisms with different targets and common genetic factor predisposition. This review provides evidence of the association between MG and several comorbid autoimmune diseases.

Autoimmune liver disease and multiple sclerosis: state of the art and future perspectives.

Clinical observations suggest that the prevalence of autoimmune diseases is changing over time. Both autoimmune liver diseases and multiple sclerosis have shown a significant increase in the last decades. Although the coexistence of autoimmune diseases within individuals and families is a common phenomenon, the extent to which liver disease and multiple sclerosis co-occur is not clear. Case reports and few studies have reported the possible coexistence of multiple sclerosis with thyroid diseases, inflammatory bowel disease, psoriasis, and rheumatoid arthritis. It is unknown whether there is a definite association between multiple sclerosis and autoimmune liver diseases. We reviewed the literature to summarize the available studies on the association between different autoimmune liver diseases (autoimmune hepatitis, primary biliary cholangitis, and primary sclerosing cholangitis) and treated or untreated multiple sclerosis.

Management of Autoimmune urticaria in a patient with Myasthenia Gravis, a challenging case.

The pathophysiology of chronic spontaneous urticaria (CSU) is not yet fully understood; however, increasing evidence supports the association between CSU and autoimmunity. Myasthenia gravis (MG) is an autoimmune neuromuscular disorder. MG management relies on using immunosuppressants and avoiding certain medications that can precipitate an MG crisis. The coexistence of CSU and MG was described in the literature on elderly patients. Herein we present a challenging case regarding the management of CSU in a young female with MG. A 22-year-old lady known to have Myasthenia gravis post thymectomy, with a history of multiple MG crises, presented to the Allergy Clinic with recurrent itchy hives typical for urticaria without associated angioedema. Despite being on Azathioprine and low-dose steroids for MG treatment, she had an active CSU disease, UAS7:32, UCT: 5. The neurologist advised against the use of regular oral antihistamines because they might exacerbate MG. Although we do not have serum autologous skin testing, basophil activation test, or IgG autoantibodies for a definitive definition of autoimmune CSU (aiCSU), the patient has some features supporting the diagnosis of aiCSU (see Table 1). In addition, she has a normal total IgE level, normal C3, C4, negative RF, ANA, ANCA, anti-TPO, and anti-thyroglobulin antibodies. After the discussion with the neurologist, we started her on Omalizumab 300 mg every four weeks, which was increased to 450 mg every two weeks with partial control of CSU. She was started on rituximab to treat MG with improvement in CSU. To the best of our knowledge, limited data describing the association between MG and CSU in young patients. Moreover, there is insufficient data on the safety of antihistamines in patients with MG, which are the first line of treatment for CSU. There are clinical and laboratory biomarkers that help in identifying CSU endotypes. Recognition of aiCSU endotype is essential as it helps predict disease course and response to treatment. Moreover, careful therapeutic interventions in patients with CSU and coexistent autoimmune diseases are warranted to achieve efficacy and reduce drug interactions and adverse effects.

Risk factors of developing inflammatory bowel diseases

Introduction: The pathogenesis of inflammatory bowel disease (IBD) is still unknown. It is known to be multi-factorial. The world is seeing an ever increasing number of new cases of these diseases. Ulcerative colitis and Crohn's disease are the main representatives of inflammatory bowel diseases.&#x0D; Aim: The aim of the study was to analyze risk factors for inflammatory bowel diseases.&#x0D; Materials and methods: The results were obtained on the basis of a questionnaire survey.&#x0D; Results: 95 people took part in the survey aged 16 to 72 years old. 35.8% were men and 64.2% were women. 78% lives in cites, only 22% are rural residents. 56.4% of them suffer from ulcerative colitis and 43.6% from Crohn's disease. 40.4% of respondents smoked cigarettes in the past, but currently only 12.6% are still struggling with the addiction. Only 4 people declare brushing their teeth after each meal. 18 people confirm the presence of NCDH in their families, 19 suffer from other autoimmune diseases at the same time. 2 people from among the respondents - also celiac disease. One person had Salmonella and Shigella infection. Conclusions: Due to the mutual cause-effect relationships between genetic predisposition and the influence of environmental factors, it is currently difficult to state which of the above factors plays a decisive role. Environmental factors that play a role in the etiopathogenesis of IBD include, first and foremost, the intestinal bacterial flora, diet, human environment and smoking. There is a clear tendency for the coexistence of autoimmune diseases in the group of patients with NCJ and a predisposition to the disease in the family. There is also a need to educate patients about the benefits of taking probiotics and taking care of proper eating habits. Key words: inflammatory bowel diseases, risk of developing the disease, irresponsible patient

Practical Clinical Applications of Islet Autoantibody Testing in Type 1 Diabetes.

The distinction between type 1 diabetes (T1D) and type 2 diabetes (T2D) is extremely important for the choice of therapy, body weight and dietary management, screening for coexistent autoimmune diseases and comorbidities, anticipated prognosis, and risk assessment in relatives. Not uncommonly, the presentation of the patient may not allow an unambiguous discrimination between T1D and T2D. To help resolve this challenge, the detection of islet autoantibodies can support the diagnosis of T1D. The presence of islet autoantibodies in a person with diabetes indicates an autoimmune etiology therefore establishing the diagnosis of T1D. Presently 5 islet autoantibodies are available for routine clinical use: islet cell cytoplasmic autoantibodies (ICA), insulin autoantibodies (IAA), glutamic acid decarboxylase autoantibodies (GADA), insulinoma associated-2 autoantibodies (IA-2A), and zinc transporter-8 autoantibodies (ZnT8A). There are caveats to the selection of which islet autoantibodies should be measured. Islet autoantibodies can also predict the development of T1D. Therefore, once safe and effective therapies are available to prevent T1D, islet autoantibody testing is expected to become a routine part of medical practice. A very rare cause of autoimmune diabetes is the type B insulin resistance syndrome resulting from antagonistic autoantibodies to the insulin receptor. Rarely hypoglycemia can result from agonistic insulin receptor autoantibodies, or high-titer IAA causing the autoimmune insulin syndrome (i.e., Hirata disease). In summary, autoimmune causes of dysglycemia are increasing in clinical importance requiring the scrutiny of laboratorians. The determination of islet autoantibodies can greatly aid in the diagnosis and the prediction of T1D.

Audiological Patterns in Patients with Autoimmune Hearing Loss

Introduction: The aim of this study was to illustrate clinical and audiological patterns of hearing impairment in patients with autoimmune hearing loss (AIHL). Methods: Fifty-three patients with AIHL were retrospectively recruited, and a tapering schema of steroid treatment was administered in all these patients. The diagnosis of AIHL was essentially based on clinical symptoms, such as recurrent, sudden (sensorineural hearing loss [SSHL]), fluctuating, or quickly progressing (<12 months) SSHL (uni-/bilateral), in association with the coexistence of autoimmune diseases, high antinuclear antibodies (ANA) and the presence of human leukocyte antigen (HLA) B27, B35, B51, C04, and C07. Logistic regression analysis was applied to correlate the clinical data and laboratory features of AIHL with final outcomes. Results: The onset of AIHL was mainly progressive (49%), followed by SSHL (39.6%) or fluctuating (11.3%). The pure-tone audiogram showed more commonly a downsloping pattern (42.6% of ears), but also an upsloping, flat, cookie-bite, or inverse cookie-bite shape. Bilateral progressive AIHL was more frequently simultaneous (23 patients) than heterochronous (4 patients). Nineteen patients (35.8%) showed a favorable response to steroid therapy. The presence of recurrent, bilateral SSHL versus recurrent, unilateral SSHL had statistically negative effect on hearing recovery (OR = 0.042, p < 0.05). The heterochronous bilateral SSHL may have better prognosis than simultaneous bilateral SSHL (OR = 10.000, p = 0.099). The gender, age, concomitant autoimmune disease, high ANA, HLA alleles, tinnitus, and vestibular symptoms had no statistical effect on a favorable outcome of AIHL. Conclusions: A bilateral, simultaneous, and progressive hearing loss combined with downsloping audiogram occurred more often in patients with AIHL. Bilateral simultaneous SSHL with recurrences represents the worse prognostic form of AIHL.

A spectrum of Thymic mucosa-associated lymphoid tissue lymphoma and Thymic amyloidosis in the patient with Auto immune disease: a case series.

BackgroundThe thymus is associated with an immunodeficient status, autoimmune disease (AD), and the common thymic tumor, thymoma. We encountered two rare thymic tumors, thymic mucosa-associated lymphoid tissue (MALT) lymphoma and localized thymic amyloidosis, both in the presence of Sjögren’s syndrome (SjS). This suggests a possible link between rare thymic tumors and SjS. Therefore, we reviewed cases of thymic tumors to examine the spectrum of these tumors in patients with AD.MethodsThe clinical information of thymic amyloidosis and MALT lymphoma surgically treated at Kanagawa Cardiovascular and Respiratory Center, and Yokohama City University Hospital from January 2010 to December 2019 were reviewed. The correlation between resected thymic tumors at same period and ADs were also investigated.ResultsThere were 5 cases of thymic amyloidosis and MALT lymphoma. ALL cases had coexistent ADs (4 SjS, 1 SSc). The median age was 66 (38–76) year-old, and 4 of the patients were female. Three cases had already diagnosed as ADs before detection of tumors. Only SSc case was received preceding steroid medication. Two cases diagnosed as SjS at the same time of the operation. The median maximum tumor diameter was 70 mm. On chest computed tomography (CT), tumors contained solid part and some cystic part at various rated. Calcification was recognized with appearance of amyloid deposition. All patients were surgically treated with total thymectomy and they are alive without recurrence. At the same period, there were 163 resected thymic tumors, including amyloidosis, MALT lymphoma, thymoma, thymic cancer, neuroendocrine tumor and so on. Among them, nine patients (5.5%) had ADs. There was a correlation between ADs and thymic MALT lymphoma/amyloidosis (P<0.001).ConclusionsWe propose a process for tumorigenesis of thymic MALT lymphoma and amyloidosis. Underlying AD causes persistent and chronic inflammatory reactions. In this theory, ADs, especially SjS, might be important underlying conditions in formation of rare tumors. When the clinician encounters a patient with AD, routine chest CT is recommended and may provide thymic tumors. Conversely, in case of mediastinum tumor, screening test for AD is also recommended.

Polymicrobial Keratitis: Risk Factors, Clinical Characteristics, Bacterial Profile, and Antimicrobial Resistance.

To describe clinical characteristics, complications, and the most prevalent microorganisms causing polymicrobial keratitis and their antibiotic sensitivities. A cross-sectional study including a consecutive analysis of patient's records with a diagnosis of bacterial keratitis with a positive culture and antibiogram report were included. Patients were grouped into those having monomicrobial and polymicrobial infection. Features studied included demographic and clinical characteristics, risk factors, Gram stain, cultures, and antibiotic sensitivity. We included 656 patients; in 31.5% more than one microorganism was found. Seven hundred and twenty-three gram-positive bacteria were isolated, and 336 (46.5%) had polymicrobial keratitis. One hundred sixty-one gram-negative bacteria were isolated, and 99 (61.5%) from polymicrobial keratitis. Fourteen (0.60%) patients presented ring infiltrate, and 10 (71.42%) of those patients had polymicrobial keratitis (X2 10.654, P=0.001). Multivariate analysis showed that patients with history of contact lens use (odds ratio [OR] of 1.78, P=0.042), coexistent autoimmune disease (OR 4.64, P=0.03), irregular edges of the infiltrate (OR 2.06, P=0.005), and ring infiltrate (OR 6.034, P=0.005) have a higher risk for developing polymicrobial infection. In the polymicrobial group, gram-positive and gram-negative organisms showed a high sensitivity to Netilmicin. We found a high incidence of polymicrobial keratitis. Our results suggest that it should be suspected in patients with a history of contact lens use, coexistent autoimmune disease, infiltrates with indistinct edges, and ring infiltrates. Sensitivities to moxifloxacin are lower than those reported in previous studies, but sensitivity to Netilmicin is higher.

Risk for Coexistent Autoimmune Diseases in Familial and Sporadic Type 1 Diabetes is Related to Age at Diabetes Onset

ObjectiveType 1 diabetes (T1D) is frequently associated with other autoimmune diseases (AIDs). Although most of T1D patients are sporadic cases (S-T1D), 10% to 15% have a familial form (F-T1D) involving 2 or more first-degree relatives. This study evaluated the effect of T1D family aggregation and age onset on AIDs occurrence. MethodsIn this observational, cross-sectional, case-control, single center study, we enrolled 115 F-T1D and 115 S-T1D patients matched for gender, age, T1D age onset, and duration. With respect to T1D age onset (before or after 18 years), both groups were further subdivided into young- or adult-onset F-T1D and young- or adult-onset S-T1D. The presence of organ-specific antibodies and/or overt AIDs was evaluated. ResultsThe F-T1D group had a higher percentage of AIDs (29.8% vs 18.4%, P = .04) and a significant earlier onset of AIDs at Cox regression analysis (P = .04) than the S-T1D group. Based on multivariate analysis, the adult-onset F-T1D subgroup had the highest prevalence of both additional organ-specific antibodies (60.5%) and overt AIDs (34.9%), whereas the adult S-T1D subgroup was the least frequently involved (29.1% and 12.7%, respectively). In F-T1D patients, offsprings develop T1D and AIDs earlier than their parents do. ConclusionsIn T1D patients, familial aggregation and adult-onset of T1D increase the risk for coexistent AIDs. These clinical predictors could guide clinicians to address T1D patients for the screening of T1D-related AIDs.

S3003 Autoimmune Hepatitis With Concomitant Pernicious Anemia: A Rare Association

INTRODUCTION: The coexistence of autoimmune diseases is well recognized. Approximately 25% of patients with autoimmune disease tend to develop additional autoimmune diseases. Similarly, autoimmune hepatitis (AIH) has been seen with many different autoimmune diseases. Some of the common associations include autoimmune thyroiditis, vitiligo, rheumatoid arthritis, celiac disease, systemic lupus erythematodes, type 1 diabetes, multiple sclerosis, polymyalgia rheumatica, and urticaria. However, the coexistence of AIH and pernicious anemia (PA) is extremely rare. To the best of our knowledge, there is only one documented case of AIH associated with PA. CASE DESCRIPTION/METHODS: A 70-year-old woman of Iranian origin presented to the gastroenterology clinic complaining of poor appetite and an 8 lb weight loss over the last two months. Past medical history was notable for Type 1 autoimmune hepatitis and hypothyroidism (Table 2). She denied changes in bowel habits, hematochezia, melena, hematemesis, heartburn, dysphagia, or odynophagia. Family history was negative for gastrointestinal cancer. Laboratory studies were significant for microcytic anemia, B12, and iron deficiency. Esophagogastroduodenoscopy (EGD) showed diffuse gastric mucosal atrophy, and the pathology from the body of the stomach was consistent with chronic gastritis. Additional testing was positive for parietal cell antibody (PCA) and intrinsic factor blocking antibody (AIF), confirming the diagnosis of PA. She was subsequently advised to initiate oral iron and vitamin B12 supplementation, which led to normalization of hemoglobin. DISCUSSION: Several different autoimmune diseases have been associated in patients with AIH. Approximately 20% - 30% of type 2 AIH patients have additional autoimmune diseases. Initially, we speculated the association between AIH and PA was common. However, the literature suggested otherwise. After literature review, only one documented case of AIH co-occurring with PA was found (Table 1). As evident by our patient's history, it is essential to consider PA as a differential for patients presenting with AIH and anemia. It is also vital to consider screening these patients for other autoimmune disorders, given the increased prevalence of co-occurring autoimmune diseases.Image 1.: Chronic Gastritis with Intestinal Metaplasia of the Glands.Table 2Table 1

Prevalence of co-existing autoimmune disease in juvenile idiopathic arthritis: a cross-sectional study

BackgroundMany autoimmune diseases share common pathogenic mechanisms, cytokine pathways and systemic inflammatory cascades; however, large studies quantifying the co-existence of autoimmune diseases in patients with juvenile idiopathic arthritis (JIA) have not been conducted.MethodsWe performed a cross-sectional study using two United States administrative healthcare claims databases (Truven Health MarketScan® Commercial Database and IMS PharMetrics database) to screen for the prevalence of multiple autoimmune diseases in patients with JIA and in a control group with attention deficit hyperactivity disorder (ADHD). Patients with a diagnosis code for JIA or ADHD between January 1, 2006 and September 30, 2017 were separated into two age cohorts (< 18 and ≥ 18 years) and matched (maximum 1:5) based on age, sex, number of medical encounters, and calendar year of diagnosis. The prevalence rates of 30 pre-specified autoimmune diseases during the 12-month periods before and after diagnosis were compared.ResultsOverall, 29,215 patients with JIA and 134,625 matched control patients with ADHD were evaluated. Among patients in the MarketScan database, 28/30 autoimmune diseases were more prevalent in patients with JIA aged < 18 years and 29/30 were more prevalent in patients aged ≥ 18 years when compared with a matched cohort of patients with ADHD. In the PharMetrics database, 29/30 and 30/30 autoimmune diseases were more prevalent in patients with JIA aged < 18 and ≥ 18 years, respectively, compared with a matched cohort of patients with ADHD. Among patients with JIA aged < 18 years, the greatest odds ratios (ORs) were seen for Sjögren’s syndrome/sicca syndrome and uveitis. Among patients aged ≥ 18 years in the MarketScan database, the greatest ORs were recorded for uveitis. Data from the PharMetrics database indicated that the greatest ORs were for uveitis and chronic glomerulonephritis.ConclusionsPatients with JIA are more likely to have concurrent autoimmune diseases than matched patients with ADHD. Having an awareness of the co-existence of autoimmune diseases among patients with JIA may play an important role in patient management, treatment decisions, and outcomes.Trial registrationNot applicable.

Association Between Systemic Lupus Erythematosus and Myasthenia Gravis: Coincidence or Sequelae?

Systemic lupus erythematosus (SLE) is a systemic autoimmune disease and myasthenia gravis (MG) is an organ-specific autoimmune disease, both may exhibit positive anti-nuclear antibodies and a female preponderance. They may have similar features and can coexist in a patient or precede one another.This review article is based on electronic searches using PubMed as the primary database. Most of the articles used for this review were published in the last ten years with the exception of seven articles which were from 1995-2009. No guidelines have been followed. A total of 55 research articles were found related to the topic of this review article, and further scanning was done to eliminate some articles that did not meet the criteria.The coexistence of autoimmune diseases has been reported in many cases. The prevalence of a second autoimmune disease is higher among patients with a primary diagnosis of autoimmune disease than the general population. The prevalence of SLE in MG patients or vice-versa is greater than the general population. The association has been hypothesized to many mechanisms: thymectomy resulting in loss of central tolerance and generation of autoantibodies, regulatory T cell dysfunction, the dysregulated function of Fas receptor (CD95), anti-malarial drugs directly affecting the neuromuscular junction, the role of chemokine CXCL13 and GM-CSF in the pathogenesis. The association is rare, and the presence of one should be closely followed for further progression into other diseases. More research work needs to be done for a clear conclusion.

Phenotypic Expression of Autoimmunity in Children With Autoimmune Thyroid Disorders.

Autoimmune thyroid diseases (AITDs), including Hashimoto's thyroiditis (HT) and Graves' disease (GD), tend to aggregate with other non-thyroidal autoimmune diseases (NTADs). Aim of this Mini-review is to report the most recent insights concerning the clustering of NTADs in pediatric patients with either HT or GD, the pathophysiology of AITDs and the metamorphic thyroid autoimmunity. A systematic literature research of the last 15 years, according to EQUATOR statement, was carried out through MEDLINE via PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) Embase, CINAHL, Cochrane Library, based on the following keywords: (autoimmune thyroid disease OR Hashimoto thyroiditis OR Grave's disease) AND (autoimmune comorbidities OR extra-thyroidal autoimmune disorders) AND (children OR adolescents OR pediatrics) AND (celiac disease OR type 1 diabetes mellitus OR arthropathies OR cutaneous diseases) AND (Turner syndrome OR Down syndrome). One-hundred and twenty-eight manuscripts were extrapolated but only seventeen were eligible. On the basis of the available reports it may be inferred that clustering of NTADs can be significantly modified by both patients' age at AITDs presentation and association with Down's syndrome (DS). Particularly, the association of AITDs with celiac disease and type 1 diabetes was most commonly reported in children than in adults. A sequential shifting from HT to GD has been described in children with AITDs, and it seems to be more frequent in children with DS than in those without DS. Coexistence of autoimmune diseases might be the result of a complex interaction among genetics, environment and epigenetic modifications that are able to affect gene expression, immune system response and, finally, the pathogenesis of autoimmune diseases.

SAT-579 A Rare Presentation of Ophthalmopathy in a Patient with Hashimoto's Hypothyroidism

Ophthalmopathy is a known disorder that consists of inflammation of the orbits and periorbital tissues that can be commonly seen in systemic autoimmune diseases such as Graves. On the other hand, ophthalmopathy associated with Hashimoto's thyroiditis is a rare presentation that is under-reported in the literature. A 58-year-old female was admitted to the hospital for sudden onset of double vision with subsequent progression of vision loss in her left eye. Prior to admission, she had a known history of hypothyroidism for several years with non-compliance to replacement therapy. On admission, patient's thyroid function tests (TFTs) showed a TSH of 37.95 and a Free T4 of 0.6 along with elevated thyroid peroxidase (TPO) antibodies at 58.3, thus confirming the diagnosis of Hashimoto's hypothyroidism. Upon Ophthalmology consultation, she was noted to have orbitopathy, namely left eye rectus lateralis paralysis, that was attributed to the TPO antibodies. The patient was started on appropriate thyroid hormone replacement with improvement of TFT values within a few days. However, the patient continued to have persistent diplopia despite therapy. At this time, the patient was started on prednisone 20 mg daily for a total of 2 weeks. At the end of the steroid therapy, complete resolution of the orbitopathy with vision improvement was noted. Hashimoto's ophthalmopathy is a rare form of orbitopathy especially when compared to the well-known version in Graves' Disease. In the literature, there has been some case studies that looked at the association of Hashimoto's thyroiditis with diplopia. In one study, the authors noted that both Graves' and Hashimoto's diseases accounted for 6% of thyroid associated eye disease while Graves' disease accounted for the majority of cases. The authors also noted that patients with Hashimoto's thyroid-associated eye disease were: older, had a longer duration of Hashimoto's diagnosis, were less likely to have co-existent other autoimmune disease, had a positive history of tobacco usage, and had elevated values of thyroid stimulating antibodies (TSAb). The authors also established a positive correlation between the occurrence and severity of thyroid associated eye disease in relation to increasing TSAb levels.1 Although Hashimoto's associated ophthalmopathy is a rare presentation of this autoimmune thyroid disorder, it is prudent to have a high index of suspicion in order to institute appropriate anti-inflammatory therapy such as steroid therapy for early resolution of eye symptoms. Early identification and treatment can stop the disease progression and prevent complications such as blindness due to optic nerve compression. 1. Kan E, Kan EK, Ecemis G, Colak R. Presence of thyroid-associated ophthalmopathy in Hashimoto's thyroiditis. International Journal of Ophthalmology. 2014;7(4):644-647. doi:10.3980/j.issn.2222-3959.2014.04.10.

Coexistent sickle-cell anemia and autoimmune disease in eight children: pitfalls and challenges

BackgroundPatients with sickle cell disease (SCD) present a defective activation of the alternate complement pathway that increases the risk of infection and is thought to predispose to autoimmune disease (AID). However, coexisting AID and SCD is rarely reported, suggesting possible underdiagnosis due to an overlapping of the symptoms.Study designAmong 603 patients with SCD followed between 1999 and June 2016, we retrospectively searched for patients with coexisting SCD and AID.ResultsWe identified 8 patients aged from 7 to 17 years diagnosed with AID; juvenile idiopathic arthritis (n = 3), systemic lupus erythematosus (n = 2), Sjögren’s syndrome (n = 1) and autoimmune hepatitis (n = 2). The diagnosis of AID was often delayed due to similarities of the symptoms with those of SCD. Patients treated with steroids experienced multiple vaso-occlusive crises and received prophylactic chronic blood transfusions when it was possible. Tolerance to other immunosuppressive and biological treatments, such as anti-TNF agents, was good. A remission of AID was achieved in 4 patients, without worsening the course of the SCD. One patient underwent a geno-identical hematopoietic stem cell transplantation that cured both diseases. Another one underwent a successful liver transplantation.ConclusionCoexistence of AID and SCD generates diagnostic and therapeutic challenges. Early diagnosis of AID is important to define the best treatment, which may include targeted biological therapy.

A systematic survey on the diagnosis strategy and patient management of type 1 diabetes by Chinese physicians.

The qualification of physicians is a key factor in controlling type 1 diabetes (T1D) since they provide crucial information to their patients about self-management. To investigate whether Chinese physicians' medical strategies influence the control of T1D in their patients, we designed a questionnaire to survey Chinese physicians, which covered their diagnosis and patient-management strategies for T1D. A total of 442 completed questionnaires were received from 35 public hospitals in 12 cities. The results showed Chinese physicians mainly diagnosed T1D based on the clinical features and islet dysfunction. One-third of physicians in this study still prescribed non-basal-bolus insulin regimens to their T1D patients. More than 80% of the doctors prescribed alpha-glucosidase inhibitors as adjunctive therapy, in addition to insulin therapy. Moreover, most of the physicians in China did not pay attention to identify coexistent autoimmune diseases. T1D patients in China were not armed with self-management knowledge and skills, which should be provided by their doctors. One of the circumstances leading to insufficient disease control in Chinese T1D patients is the ineffective therapeutic strategy prescribed by their physicians. We need to promote knowledge of efficient strategies among physicians in China to achieve better disease control in Chinese T1D patients in the future.