Rare Autoimmune Disease Research Articles

Juvenile antisynthetase syndrome successfully treated by rituximab

Background: The Antisynthetase Syndrome (ASS) is a rare autoimmune disease considered as a subset of idiopathic inflammatory myopathies. This syndrome is associated with antisynthetase antibodies and clinical manifestations such as Raynaud’s phenomenon, mechanic’s hands and interstitial lung disease. Case presentation: Here in we reported a 16 years old Afghani girl who was diagnosed as having ASS. Rare diseases such as ASS should be suspected in idiopathic inflammatory myopathy patients who are resistant to standard medical regimens. Conclusion: In such cases, the use of Rituximab is strongly recommended. To the best of our knowledge is the first report of juvenile ASS in Middle East.

Case Report: Cryoglobulinemic vasculitis after COVID-19 vaccination

Since its occurrence, the coronavirus disease 2019 (COVID-19) pandemic has been responsible for a substantial rate of morbidity and mortality. The quick development of an effective and safe vaccine was essential in order to control the ongoing pandemic. However, given the severity of the situation, mass-scale vaccination had to be undertaken without much hindsight. Subsequently, side effects of the anti-COVID-19 vaccine, such as autoimmune diseases, have been reported. Cryoglobulinemic vasculitis (CryoVas) is a rare auto-immune disease, caused by the presence in the serum of abnormal immunoglobulins (cryoglobulins) able to precipitate at temperatures below 37°C. CryoVas can be either essential or, more frequently, secondary to other diseases such as infections, malignancies and auto-immune diseases. In some cases, CryoVas can be vaccine-induced. We describe an original case of a 57-year-old woman with no medical history who presented with purpura of the lower limbs that appeared 5 days after receiving her first COVID-19 vaccine. Skin biopsy and immunological work out were consistent with CryoVas.

Juvenile dermatomyositis: association between nail fold capillary end row loop- area under the curve- and disease damage indicators.

Juvenile Dermatomyositis (JDM) is a rare autoimmune disease characterized by skin and muscle inflammation. The loss of nail fold capillary end row loops (ERL) is evidence of small vessel involvement in JDM. This study aimed to examine the specific association of ERL over the disease course with evidence of JDM disease damage. We analyzed data from 68 initially treatment-naïve JDM children who had been observed for at least five years with multiple ERL density assessments. The JDM disease course were categorized into monocyclic short, monocyclic long, polycyclic, and chronic. The ERL capillary count was cumulatively evaluated using the area under the curve (AUC) method. The mean ERL density for the treatment-naive JDM was significantly lower than that of their healthy age-matched controls (4.8 ± 1.6 /mm vs. 7.9 ± 0.9 /mm; p < 0.0001). The ERL AUC was significantly lower in children with a chronic disease course compared to those with a monocyclic short (p = 0.001) or monocyclic long disease course (p = 0.013). JDM patients with lipodystrophy had lower ERL AUC than those without lipodystrophy (p = 0.04). There was no association between ERL AUC and calcifications or fractures. Persistently decreased ERL capillary density, reflected by low ERL AUC, is associated with a chronic disease course and lipodystrophy in JDM. Despite medical therapy, the mean ERL count remained below normal even after five years, particularly in polycyclic and chronic cases. It is not clear that restoring normal capillary density is currently feasible in children with JDM.

A Case of Stiff Person Syndrome Treated Using Intrathecal Baclofen

Introduction: Stiff Person Syndrome is a rare autoimmune neurological disorder with chronic muscle spasms leading to chronic pain and debilitation. Case Report: We describe a case of a 57-year-old man with the history of Diabetes mellitus type 1 diagnosed 15 years back with high-titer positive anti-GAD antibodies and poorly controlled blood sugar levels under highly dosed insulin treatment. Discussion: Intrathecal baclofen showed a marked improvement for the relief of spasticity with the choice of a baclofen pump for similar patients.

Cardiovascular risk in rare autoimmune diseases, lessons from a primary antiphospholipid syndrome patients

Abstract Background Antiphospholipid syndrome is a thrombo-inflammatory disease driven by circulating autoantibodies (aPL) that recognize cell surface phospholipids and phospholipid-binding proteins. In the absence of an underlying connective tissue disorder, the persistent presence of these antibodies associated with recurrent fetal losses and arterial or venous thrombosis is defined as a primary antiphospholipid syndrome (PAPS) with a prevalence of 1/2000 people, predominantly female. Purpose Estimation of cardiovascular risk presence based on markers of subclinical cardiovascular impairment. Methods 100 PAPS patients, with an average age of 47.70±13.14y, 93.7% females, were included in the study. Anticardiolipin antibodies (aCL IgG/IgM), anti-ß2 glycoprotein-I (anti-ß2GPI IgG/IgM), and lupus anticoagulant (LAC) were determined. Abnormal cut-off values used for left ventricular diastolic dysfunction (LVDD) were septal E ́&amp;lt;7 cm/sec, lateral E ́ &amp;lt;10 cm/sec, average E/E ́ ratio &amp;gt;14, LA volume index (LAVI) &amp;gt;34 mL/m2, and peak tricuspid regurgitation velocity &amp;gt;2.8 m/sec. LVDD was present if more than half parameters were with abnormal values. Endothelial dysfunction was assessed through ultrasound measurement of brachial artery flow-mediated dilation (FMD) and atherosclerosis progression by ultrasound assessment of intima-media thickness (cIMT) on carotid arteries (common carotid artery, CCA, internal carotid artery, ICA). The results were compared to 90 healthy, age and sex-matched controls. Results LVDD was significantly more prevalent in PAPS patients compared to healthy controls (24.8% vs. 2.2%, p=0.001). FMD was significantly lower in PAPS patients (10.76±5.15% vs. 14.20±6.76%, p=0.0001) and cIMT values were significantly higher (left ICA 0.80±0.29mm vs 0.56±0.20mm, p=0.001). All markers of subclinical atherosclerosis were significantly related to age and standard atherosclerotic risk factors present. Regarding aPL profile, anti-ß2GPI IgG positive PAPS patients had higher levels of cIMT ICA left (p=0.049) and LAC positive higher prevalence of LVDD (p=0.047) CONCLUSIONS: PAPS patients impose significantly higher prevalence of subclinical cardiovascular involvement compare to healthy population. Timely recognition, along with vigorous control of standard atherosclerotic risk factors and a proper therapeutic (antithrombotic and/or anticoagulant) regime, is of great importance.

Prevalence and risk factors of left ventricular diastolic dysfunction in systemic sclerosis patients: insights from new echocardiographic parameters

Abstract Background Systemic sclerosis (SSc) is a rare autoimmune connective tissue disease characterized by excessive extracellular matrix deposition and fibrosis that can affect the skin, blood vessels, and internal organs, including the heart. Primary heart involvement in SSc refers to the presence of cardiac fibrosis, inflammation, and dysfunction in the absence of pulmonary hypertension (PH). Although PH is usually considered the major risk factor for death in SSc patients, diastolic dysfunction has been proposed as an independent predictor of mortality, which may be more robust than PH. Purpose Early identification and management of heart complications in SSc patients are crucial to prevent further deterioration and improve treatment outcomes. However, myocardial damage caused by SSc is often poorly understood, and the long-term effects and prognosis remain unknown. Methods We conducted a cross-sectional study of 69 patients (p) with SSc diagnosis evaluated between February 2022 and February 2023. We analyzed the prevalence of left ventricular diastolic dysfunction (LVDD) as recommended by the 2016 ASE/EACVI guidelines. We compared the presence of risk factors associated with LVDD and its association with other echocardiographic findings. Of the 69p, 24 (34.8%) had LVDD, 41 (59.4%) had normal diastolic function, and 4 (5.8%) had undetermined diastolic dysfunction. Older age (mean age 69.7 ± 11.2 vs 57 ± 12.8; p &amp;lt; 0.01), arterial hypertension (50% vs 22%; p = 0.02), higher body mass index (28.3 ± 8 vs 24.6 ± 4.5; p = 0.02), and higher NTproBNP levels (131 [64-403] vs 97 [45-163]; p = 0.047) were significantly associated with LVDD. The absence of antitopoisomerase (scl70 0% vs 22.2%; p = 0.021) and the presence of anticentromere (CENP-A 81% vs 55.6%; p = 0.05) and (CENP-B 85.7% vs 55.6%; p = 0.02) antibodies were also significantly associated with LVDD. Additionally, classical parameters of ventricular function, such as left ventricular ejection fraction (LVEF 63.5 ± 4.2 vs 63.4 ± 3.7; p = 0.9) or tricuspid annular plane systolic excursion (TAPSE 20.6 ± 2.3mm vs 21.2 ± 2.4mm; p = 0.32), were not associated with LVDD. However, impairment of the right ventricular free wall strain (-23.8 ± 4 vs -27 ± 2.8; p = 0.017), and lower left atrial strain reservoir function (27.7 ± 10 vs 38.4 ± 12.7; p = 0.05) were significantly associated with LVDD. Conclusion LVDD is highly prevalent in patients with systemic sclerosis, particularly in elderly patients with a higher body mass index and those affected by arterial hypertension. These patientes have higher values of NTproBNP. Futhermore, antitopoisomerases antibodies are less likely to be expressed and anticetromere antibodies are more likely to be expressed . These findings highlight the importance of regular cardiovascular monitoring in SSc patients and the potential value of using new echocardiographic parameters to identify those at risk for LVDD.

Single-cell landscape of peripheral immune response in patients with anti-melanoma differentiation-associated gene 5 dermatomyositis.

Anti-melanoma differentiation-associated gene 5 (Anti-MDA5)-positive DM is a rare but life-threatening autoimmune disorder that is associated with a high risk of developing rapidly progressive interstitial lung disease. Current empirical therapies offer limited benefit in terms of patient survival, as little is known about the aetiology of anti-MDA5 DM. To best understand its immune landscape, we applied single-cell RNA sequencing (scRNA-seq) to peripheral blood samples from DM patients and healthy controls. Peripheral blood mononuclear cells (PBMCs) from eight DM patients (including three distinct subtypes of DM) and two healthy donors were sequenced using the 10X Genomics platform. Additional scRNA-seq data for four healthy donors were incorporated for further bioinformatic analysis. Aberrantly increased proportions of CD14+ monocytes and plasma cells were observed in anti-MDA5 DM PBMC samples. Moreover, we found an overactivated type I IFN response and antiviral immunity in both innate and adaptive immune cells derived from anti-MDA5 DM patients that was positively correlated with disease severity. Importantly, a unique subset of CD14+ monocytes that highly expressed IFN alpha-inducible protein 27 (IFI27), a biomarker for viral infection, and IFN induced with helicase C domain 1 (IFIH1, which encodes MDA5) was specifically identified in anti-MDA5 DM samples for the first time. Our study has illustrated the peripheral immune cell atlas of a number of DM subtypes, has provided compelling evidence for a viral infection-derived origin for anti-MDA5 DM, and has indicated potential targets for innovative therapeutic interventions.

Linear IgA Dermatosis in a Child: Clinical Case

Background. Linear IgA dermatosis is a rare autoimmune bullous disease characterized by vesiculo-bullous subepidermal lesions (affecting the skin and mucous membranes) and by linear homogeneous IgA deposition in the epidermis basal membrane.Clinical case description. Clinical case of linear IgA dermatosis in children is presented. Clinical data assessment, histological examination of the skin biopsy (to determine the depth of bullous), immunofluorescent examination (to reveal IgA deposition in the epidermis basal membrane) are crucial for reliable disease diagnosis according to the studies. Altogether it helps to establish the final diagnosis and determine the patient's management. Dapsone is the first-line treatment for this disease, it has proven to be an effective and safe medication.Conclusion. This case of linear IgA dermatosis is of concern due to disease severity and its rarity in clinical practice. Differential diagnosis is rather complicated and clinically requires high-tech research methods. Only immunofluorescent examination allows to diagnose linear IgA dermatosis accurately. Lesions' regression was achieved due to systemic therapy with dapsone (1.8 mg/kg/day).

Reproducibility of pulmonary function tests in patients with systemic sclerosis

Systemic sclerosis (SSc) is a rare autoimmune disease in which interstitial lung disease (ILD) is the leading cause of morbidity and mortality. Clinical management of the lung disease is mainly based on pulmonary function testing (PFT) and their changes over time. Little is known about the reproducibility of PFT testing in SSc patients. The aim of this study was to assess the test–retest reliability and reproducibility of PFTs in SSc patients with or without ILD over 30 days in order determine the potential physiologic variation over the time. We performed prospective observational study of SSc patients. The FVC, FEV1/FVC ratio, DLCO and KCO parameters were assessed in this population at four different timepoints; T0 (time 0) and H3 (T0 + 3 h) defined test–retest reliability, D15 (T0 + 15 days) and D30 (T0 + 30 days) for reproducibility. A mixed linear model was used to test the effect of time (and therefore reproducibility) on patients and we looked for an interaction. We included 25 SSc patients divided in two groups, 14 with ILD and 11 non-ILD. Interactions between time and group were not significant and were not reported. Time and group did not significantly influence the different measures of the PFT: FVC [p values time and group effect respectively (0.33; 0.34)], FEV1/FVC ratio (0.093; 0.056) and DLCO (0.99; 0.13) in the ILD and non ILD group (Table S2). The analyse with interactions between time and group were not significant and are not reported. We also used a Bland Altman test to assess reproducibility for FVC (L) and DLCO (mMKpa/min/L), Figs. 1 and 2 respectively. The measurements were therefore reproducible over time and in each group. PFT parameters are reproducible over time in a clinically stable population of SSc (no significant effect of the time T0, H3, D15 and D30) and there is no significant distinction between patients with ILD and no ILD. These respiratory functional data can further underline their use in clinical practice.

Impact of Anticoagulation in Acquired Hemophilia a

Background Acquired Hemophilia A (AHA) is a rare autoimmune disorder that occurs due to the development of autoantibodies against factor VIII which leads to inhibition of the coagulation cascade and results in a propensity for hemorrhage. The estimated incidence is approximately 1.5 per million per year. It carries an exceptionally high morbidity and mortality rate, with severe or life-threatening hemorrhagic events occurring in 70-90% of cases, with 5-10% of these cases resulting in mortality. Several underlying conditions are associated with AHA, including autoimmune disorders, obstetrical and oncologic disease, and various medications, such as direct oral anticoagulants (DOACs) and antiplatelet therapy (APT), both of whose usage has increased significantly over the past decade. Objectives We aimed to evaluate whether patients prescribed an antiplatelet or anticoagulant at the time of diagnosis of AHA experienced more severe bleeding and worse clinical outcomes compared to those with AHA not prescribed an antiplatelet or anticoagulant. Methods This is a single-center retrospective study examining 16 individuals with AHA from April 2013 to April 2023. These individuals were categorized by the presence or absence of a prescribed anticoagulant and then further divided into class of anticoagulant (APT, DOAC or other oral anticoagulant (OAC), or exposure to both). Primary end points included the number of blood product transfusions received, hospital length of stay (LOS), need for intervention or procedure, and degree of hemoglobin (Hgb) drop from baseline. Continuous variables were compared using t-test or Wilcoxon rank-sum test while categorical variables were compared using the chi-square test or Fisher's exact test. Results Of the 16 individuals in our cohort, 9 were without prior exposure to anticoagulation or antiplatelet agents before the diagnosis of AHA while 7 were prescribed either an anticoagulant, antiplatelet agent, or both. Of those taking one of these classes of medications, 2 were prescribed OACs, 3 were prescribed APTs, and 2 were prescribed both classes. The mean baseline Hgb was similar in both groups, 12.84 for the non-exposed group and 12.92 for the exposed group, while mean Hgb at diagnosis was 9.55 and 8.81 for the non-exposed group and exposed group respectively (p-value 0.638). Median factor VIII titer inhibitors at diagnosis were 3.30 and 38.10 (p-value 0.124) for non-exposed and exposed groups, respectively. Mean hospitalization rates for non-exposed individuals versus exposed individuals were 5.0 and 7.0 (p-value 2.00) with a mean hospital LOS of 10.20 and 12.57 days (p-value 0.624) in the non-exposed and exposed group, respectively. The mean number of packed red blood cell (pRBC) transfusions needed during the index hospitalization was 1.6 and 3.0 (p-value 0.333) in the non-exposed group and exposed group respectively while the mean number of platelet transfusions were 4 and 6 in the non-exposed and exposed groups respectively. There was a statistically significant increase in intramuscular bleeding with a mean of 1.0 and 5.0 (p-value 0.035) in the non-exposed and exposed groups respectively. In each group there was only one individual who required procedural intervention. There was one death due to hemorrhage which occurred in the exposed group (p-value 0.467). Conclusions The increased rates of intramuscular bleeding in patients exposed to prior anticoagulation was statistically significant. Intramuscular hemorrhage is associated with increased morbidity due to the risk for compartment syndrome requiring surgical intervention. Our data demonstrates a trend towards the need for a longer hospitalization and more pRBC transfusions in individuals with prior exposure though notably, there is not an apparent increased trend for an increased rate of platelet transfusions. There is also a trend towards significance for higher factor VIII titer inhibitor levels in patients on anticoagulation at the time of diagnosis. While this study is limited in power by the sample size, there are no comparable studies to date examining the impact of anticoagulation on individuals with AHA. With the increasing rates of anticoagulation therapy, further investigation is needed on the impact of therapeutic anticoagulant or antiplatelet use prior to the diagnosis of AHA and subsequent clinical outcomes.

Prediction of the Clinical Course of Immune Thrombocytopenia in Children by Platelet Kinetics

Childhood immune thrombocytopenia (ITP) is a rare autoimmune disorder characterized by isolated thrombocytopenia. Prolonged ITP (persistent and chronic) leads to a reduced quality of life for children in many domains. To provide optimal support for children, with ITP, it is important to be able to predict those who will develop prolonged ITP. This study aimed to develop a mathematical model based on platelet recovery that allows the early prediction of prolonged ITP. In this retrospective study, we used platelet counts from the 6 months following the diagnosis of ITP to model the kinetics of change in platelet count using a pharmacokinetic–pharmacodynamic model. In a learning set (n = 103), platelet counts were satisfactorily described by our kinetic model. The Kheal parameter, which describes spontaneous platelet recovery, allowed a distinction between acute and prolonged ITP with an area under the curve (AUC) of 0.74. In a validation set (n = 58), spontaneous platelet recovery was robustly predicted using platelet counts from 15 (AUC = 0.76) or 30 (AUC = 0.82) days after ITP diagnosis. In our model, platelet recovery quantified using the kheal parameter allowed prediction of the clinical course of ITP. Future prospective studies are needed to improve the predictivity of this model, in particular, by combining it with the predictive scores previously reported in the literature.

Clinical Characteristics of Anti-Synthetase Syndrome and Variables Associated with Interstitial Lung Disease and Mortality: A Retrospective Cohort Study

Anti-synthetase syndrome (ASS) is a rare autoimmune disease. Since the knowledge of ASS remains limited, we conducted the retrospective study aiming to describe clinical characteristics and identify variables associated with interstitial lung disease (ILD) and mortality among patients with ASS. Patients diagnosed with ASS from January 2013 to October 2022 were included. Patient demographics, clinical manifestations, myositis auto-antibody profiles, HRCT findings, and laboratory tests were collected. Variables associated with mortality risk and ILD were evaluated using the Cox proportional hazards model and the logistic regression model, respectively. A total of 82 patients with ASS were included. Clinical manifestations included arthritis (57%), Raynaud’s phenomenon (32%), mechanic’s hands (29%), fever (26%), and myositis (17%). The myositis auto-antibody profiles included anti-PL-7 (29%), anti-Jo-1 (27%), anti-EJ (17%), anti-PL-12 (16%), and anti-OJ (11%). ILD was observed in 64 patients (78%). Among patients with ILD, 21 initially presented with ILD before developing other ASS clinical manifestations, 29 simultaneously presented with ILD and other symptoms, and 14 had isolated ILD throughout follow-up. Overall, 6 patients presented with rapid-progressive ILD. With a median follow-up time of 2.5 years, mortality was observed in 10 patients (12.2%). Factors associated with mortality included increased lymphocyte counts (adjusted HR, 0.74; 95% CI, 0.61–0.91; p &lt; 0.01), isolated ILD (adjusted HR, 9.59; 95% CI, 1.52–60.61; p = 0.02) and the presence of anti-Ro52 antibodies (adjusted HR, 0.14; 95% CI, 0.02–0.93; p = 0.04). Factors associated with ILD included age (adjusted OR, 1.10; 95% CI, 1.03–1.18; p = 0.01), presence of anti-Ro52 antibodies (adjusted OR, 17.92; 95% CI, 2.13–138.68; p = 0.01), and presence of arthritis (adjusted OR, 0.09; 95% CI, 0.01–0.75; p = 0.03). Our study demonstrated a favorable overall mortality rate among ASS patients.

Bullous Pemphigoid Causing Successive Emergency Department Visits.

In this case presentation, an 84-year-old male with Fitzpatrick type IV skin tone experienced blistering due to bullous pemphigoid (BP), first on the distal upper left extremity and then on the distal lower extremities, chest, and back. These symptoms resulted in three visits to the emergency department within a month, as well as an episode of hospitalization. Despite treatment, the blistering did not resolve until future outpatient care with dermatology. Bullous pemphigoid is a rare autoimmune disease where autoantibodies target hemidesmosomal proteins causing basement membrane destruction and tense subepithelial bullae with pruritus. While uncommon, the incidence of BP is increasing. Bullous pemphigoid tends to affect older adults, appearing as a rash prior to bullae formation on the abdomen, extremities, groin, axillae, or mucosa. Bullous pemphigoid may also be drug-related with atypical symptoms. Diagnosis of BP should be based on immunopathology, and initial treatment of BP is through corticosteroid or doxycycline.

Antisynthetase syndrome: a case report and review of the literature.

antisynthetase syndrome is a rare autoimmune disease characterized byinterstitial lung disease, non-erosive arthritis, myositis, Raynaud&amp;#39;s disease, and/or &amp;quot;mechanichand&amp;quot; when autoantibodies directed against aminoacyl-tRNA synthetases are detected.Antisynthetase syndrome belongs to the group of idiopathic inflammatory myopathies and isthe so-called overlap myositis. The article provides the latest literature data on the diagnosticvalue of myositis-specific autoantibodies based on a literature review for the period from2013 to 2023 using the scientometric databases MEDLINE/ PubMed, Wiley Online Library,and Scopus. Data from the literature show that certain myositis-specific autoantibodies,namely anti-PL-7 and anti-PL-12, can affect the risk of developing interstitial lung disease,and determine the course and prognosis of the disease. The presence of interstitial lungdisease in patients with myositis correlates with increased morbidity and mortality. Thearticle describes a clinical case of the debut of the antisynthetase syndrome from interstitiallung disease, which was falsely diagnosed as a coronavirus disease. The patient&amp;#39;s condition&#x0D; improved only because of using glucocorticoids, which the patient stopped taking over time,which led to the worsening of pulmonary symptoms, the appearance of new clinical signs ofdamage to the joints and skin, progressive decrease in muscle function, and dysphagia. Afteran examination in the rheumatology department, based on the presence of interstitial lungdisease in the patient - fibrotic alveolitis, which was confirmed by computer tomography,myositis, arthritis, characteristic skin changes, the presence of antinuclear antibodies, anti-SS-A/Ro52, specific antisynthetase antibodies (Jo-1, Pl-7, Pl-12), the diagnosis of theantisynthetase syndrome was established. A detailed laboratory and instrumental examinationmade it possible to rule out a paraneoplastic process at the time of examination. Theprescribed treatment included pulse therapy with methylprednisolone and cyclophosphamide,which led to improvement in the patient&amp;#39;s condition. The work carried out emphasizes theneed for interdisciplinary interaction of pulmonologists, rheumatologists, and infectiousdisease specialists at the stage of verification of the final diagnosis and the therapyappointment. Achieving clinical and laboratory remission of the disease requires long-termmonitoring by a rheumatologist.

Bickerstaff’s brainstem encephalitis: a rare case of neurologic complication in Ulcerative Colitis

Bickerstaff’s brainstem encephalitis is a rare autoimmune disorder that presents with ataxia, ophthalmoplegia, disturbance of consciousness and quadriplegia. A 45-year-old man with a history of ulcerative colitis (UC) taking mesalazine (5-aminosalicylic acid) visited the emergency room presenting with ataxia, ophthalmoplegia and a progressively worsening cognitive impairment. Cerebrospinal fluid analysis showed mild elevation in protein and white blood cell count and increased intracranial pressure. Anti-GQ1b autoantibodies were found positive in the patient’s serum and contrast-enhanced brain magnetic resonance imaging showed diffuse leptomeningeal enhancement and pontine lesions. Based on these findings and the patient’s clinical course and history, he was diagnosed with Bickerstaff’s brainstem encephalitis. Mesalazine was discontinued and high-dose steroid pulse therapy was started, followed by intravenous immunoglobulin, which resulted in gradual improvement of the neurologic symptoms. When an ulcerative colitis patient presents with progressive cognitive impairment, quadriplegia and disturbance of consciousness and gait, Bickerstaff brainstem encephalitis should be considered in the differential diagnosis and prompt immunotherapy may lead to favorable prognosis.

Autoantibody Profiling and Anti-Kinesin Reactivity in ANCA-Associated Vasculitis.

ANCA-associated vasculitides (AAV) are rare autoimmune diseases causing inflammation and damage to small blood vessels. New autoantibody biomarkers are needed to improve the diagnosis and treatment of AAV patients. In this study, we aimed to profile the autoantibody repertoire of AAV patients using in-house developed antigen arrays to identify previously unreported antibodies linked to the disease per se, clinical subgroups, or clinical activity. A total of 1743 protein fragments representing 1561 unique proteins were screened in 229 serum samples collected from 137 AAV patients at presentation, remission, and relapse. Additionally, serum samples from healthy individuals and patients with other type of vasculitis and autoimmune-inflammatory conditions were included to evaluate the specificity of the autoantibodies identified in AAV. Autoreactivity against members of the kinesin protein family were identified in AAV patients, healthy volunteers, and disease controls. Anti-KIF4A antibodies were significantly more prevalent in AAV. We also observed possible associations between anti-kinesin antibodies and clinically relevant features within AAV patients. Further verification studies will be needed to confirm these findings.

A Case of Paraneoplastic Anti-TIF1-γ Antibody-Positive Dermatomyositis Presenting with Generalized Edema and Associated with Aortic Aneurysm

Dermatomyositis (DM) is a rare autoimmune inflammatory disease characterized by pathognomonic skin findings, often accompanied by myositis beginning with proximal weakness [...]

H - 38 Neuropsychological Evaluation and Cognitive Profile of Stiff Person Syndrome (SPS) in a Predominantly Spanish-Speaking Older Adult: Is Cognition Really Affected?

Stiff Person Syndrome (SPS) is a rare autoimmune disorder that affects approximately one in every million people. It is characterized by progressive muscle rigidity and intense, episodic muscle spasms triggered by environmental and psychosocial (i.e., emotional stress) factors. While original diagnostic criteria for classical SPS included the absence of frank cognitive impairment (aside from what would be expected from seizures), more recent literature suggests a number of neurocognitive difficulties potentially associated with reduced GABA levels. The following case study presents a 73-year-old, predominantly Spanish-speaking man with 14years of education. His medical history is notable for over 20years with diagnosed SPS, hypertension well managed with medications, and the absence of other medical conditions that may contribute to cerebrovascular burden. He completed a comprehensive neuropsychological evaluation in Spanish. Overall, his profile was notable for mild inefficiencies in frontal-subcortical functions, with a relative weakness in rote learning and retention. He performed remarkably well relative to his level of motor compromise. There was no evidence of either a mild or major neurocognitive disorder, and his clinical interview and behavioral inventories were suspicious for a personality disorder. Recent literature proposes SPS is related to impairment in verbal learning, retention, fluency, processing speed, and attention. The present case corroborated, at most, mild inefficiencies in these previously documented areas. Careful consideration should be used in the evaluation of studies on SPS and cognition, particularly in determining whether samples had high degrees of comorbid conditions (i.e., cerebrovascular burden) that could help explain positive findings related to cognition.

THU381 A Case of Severe Type B Insulin Resistance Successfully Treated With Combined Immunosuppressive Therapy

Abstract Disclosure: A.K. Sumal: None. D.S. Martinez: None. Background: Type B insulin resistance is a rare autoimmune disorder caused by autoantibodies against the insulin receptor and is characterized by markedly high insulin requirements, severe catabolism, and a mortality rate over 50%. Clinical Case: A 50-year-old woman with Sjogren’s syndrome and a one-year history of diabetes treated with insulin presented with diabetic ketoacidosis (DKA) and was found to have type B insulin resistance. Initial laboratory workup demonstrated DKA with a blood glucose of 464 mg/dL (n: 65–99 mg/dL), CO2 8 mmol/L (n: 20–30 mmol/L), anion gap 16 (n: 8–12), pH 7.08 (n: 7.30–7.40) on venous blood gas, 2+ ketonuria, and a hemoglobin A1c of 11.7% (n: &amp;lt;5.7%). Additional workup revealed negative glutamic acid decarboxylase-65, insulin antigen-2, and insulin antibodies, positive C-peptide 2.7 ng/mL (n: 1.1–4.3 ng/mL), and elevated adiponectin 41 ug/mL (n: 5–28 ug/mL). Her physical exam was notable for 100 lb weight loss and extensive acanthosis nigricans, facial acne, and hirsutism. She was started on IV insulin infusion with resolution of her DKA but required more than 5000 units of insulin per day to obtain glycemic control. Due to the suspicion of type B insulin resistance, she was treated with metformin 1000 mg twice daily and pioglitazone 45 mg daily to reverse her hypercatabolic state and combined immunosuppressive therapy consisting of 2 cycles of rituximab 750 mg/m2 infusion, cyclophosphamide 100 mg daily, and dexamethasone 40 mg for 4 days administered 14 days apart based on a 2018 NIH protocol. Her serum was sent for confirmatory insulin receptor autoantibody testing, which is pending. Over the next 30 days, her insulin requirements improved immensely, and she was ultimately discharged without insulin in clinical remission. To prevent recurrence and hypoglycemia associated with low titers of insulin receptor autoantibodies, she was started on azathioprine 100 mg daily as maintenance therapy. Three months later, she was seen in endocrine clinic in sustained remission with a hemoglobin A1c of 6.0% and resolution of her acanthosis nigricans and hyperandrogenism. Review of her continuous glucose monitor showed no episodes of hypoglycemia. Conclusion: This rare case demonstrates the successful treatment of type B insulin resistance using metformin, pioglitazone, and combination immunosuppressive therapy with rituximab, cyclophosphamide, and pulse-dose steroids, followed by maintenance azathioprine. With a mortality rate over 50%, the use of combined immunosuppressive therapy has transformed this condition into a curable form of diabetes and should be recommended in all patients with type B insulin resistance. Presentation: Thursday, June 15, 2023

FRI531 IgG4 Related Mass -forming Thyroid Disease: Two Case Reports

Abstract Disclosure: R.S. Braham: None. C. Droumaguet: None. M. Vitellius: None. J. Tran-van-nhieu: None. E. Béquignon: None. P. Desgranges: None. N. Limal: None. M. Mahevas: None. B. Godeau: None. IgG4 thyroiditis is an invasive fibrotic process involving the thyroid in a systemic disease. It is a rare inflammatory autoimmune disease with insidious presentation and nonspecific symptoms.We describe two unusual cases of mass forming IgG4 thyroiditis that were diagnosed recently in our department. The first case is about a 42-year-old woman who has a history of Hashimoto thyroiditis with hypothyroidism presenting with a rapid goiter growth, neck pain, dysphagia and hoarseness. A lymphoma was suspected. Ultrasonography shows heterogeneous hypoechoic lesions that may infiltrate the perithyroid muscles. Fine-needle aspiration (FNA) was suspicious of IgG4 infiltrative disease which was confirmed by microbiopsy. Only the thyroid was hypermetabolic on fluorine-18 fluorodeoxyglucose (FDG) positron emission tomography (PET) Scan. No improvement under corticosteroid treatment and Rituximab. Surgery was planified to relieve pressure symptoms. The thyroid surgery was very difficult because of the extensive fibrosis and only a biopsy was performed, confirming the diagnosis and excluding malignancy. The second case is about a 68-year-old woman with a history of hypertension and Graves disease presented with a neck right mass that was suspected to be a paraganglioma, hypermetabolic on FDG PET scan with no other localisation. This mass was surrounding the right primitive carotid artery, associated with thrombi of the internal jugular vein. FNA and microbiopsy found a fibrotic non specific tissue. Thyroidectomy and surgical biopsy of the neck mass were performed with histopathology confirming IgG4 disease on the thyroid gland with fibrosis. There were no hypocalcemia in the two cases and no other localisation. IgG4 related mass-forming thyroiditis is an extremely rare disease. It is now a recognizable pattern of IgG4 thyroiditis, and has as differential diagnosis Hashimoto’s thyroiditis, Graves disease and thyroidal carcinoma.We will discuss through these cases the different clinical presentation of this rare disease, the diagnostic tools, the treatment and the long term follow up. Presentation: Friday, June 16, 2023