Positive Autoimmune Antibodies Research Articles

Acute Presentation of Autoimmune Hepatitis: Case Report

This case report describes the clinical presentation, diagnostic evaluation, and treatment outcome of a 38-year-old female patient presenting with yellow discoloration of eyes and urine, along with associated symptoms such as nausea, poor appetite, abdominal pain, extreme fatigue, and mild joint pain. The patient had a history of amenorrhea for three months and no family history of autoimmune disease or drug-induced liver injury. Upon examination, the patient exhibited deep icterus and mild tender hepatomegaly, but without signs of acute liver failure. Laboratory investigations revealed elevated liver function markers and positive autoimmune antibodies, including antinuclear antibody (ANA) and anti-smooth muscle antibody (ASMA), while ruling out other possible etiologies such as viral hepatitis, Wilson's disease, and hemochromatosis. Imaging studies showed features of acute hepatitis, and liver biopsy could not be performed due to prolonged prothrombin time. The patient was diagnosed with probable autoimmune hepatitis (AIH) and initiated on a treatment regimen consisting of prednisolone 40 mg daily, which was gradually tapered over time and added azathioprine 100 mg daily. The patient demonstrated significant improvement in liver function tests with this treatment approach. However, she discontinued treatment on her own accord but continued to have normal liver function during subsequent follow-up visits. During the consultation, the patient and healthcare provider engaged in a comprehensive discussion concerning the significance of sustained treatment over an extended period and the inherent possibility of relapse.

A CASE OF ANTISYNTHETASE SYNDROME: THE IMPORTANCE OF HISTORY IN DISTINGUISHING ETIOLOGY OF INTERSTITIAL LUNG DISEASE IN A COVID-19 WORLD

A CASE OF ANTISYNTHETASE SYNDROME: THE IMPORTANCE OF HISTORY IN DISTINGUISHING ETIOLOGY OF INTERSTITIAL LUNG DISEASE IN A COVID-19 WORLD

Analysis of clinical characteristics of children with Aicardi-Goutieres syndrome in China

BackgroundAicardi-Goutieres syndrome (AGS) is an inflammatory disorder belonging to the type I interferonopathy group. The clinical diagnosis of AGS is difficult, which can lead to a high mortality rate. Overall, there is a lack of large-sample research data on AGS in China. We aim to summarize the clinical characteristics of Chinese patients with AGS and provide clues for clinical diagnostic.MethodsThe genetic and clinical features of Chinese patients with AGS were collected. Real-time polymerase chain reaction was used to detect expression of interferon-stimulated genes (ISGs).ResultsA total of 23 cases were included, consisting of 7 cases of AGS1 with three prime repair exonuclease 1 mutations, 3 of AGS2 with ribonuclease H2 subunit B (RNASEH2B) mutations, 3 of ASG3 with RNASEH2C, 1 of AGS4 with RNASEH2A mutations, 2 of AGS6 with adenosine deaminase acting on RNA 1 mutations, and 7 of AGS7 with interferon induced with helicase C domain 1 mutations. Onset before the age of 3 years occurred in 82.6%. Neurologic involvement was most common (100%), including signs of intracranial calcification which mainly distributed in the bilateral basal ganglia, leukodystrophy, dystonia, epilepsy, brain atrophy and dysphagia. Intellectual disability, language disability and motor skill impairment were also observed. Skin manifestations (60.87%) were dominated by a chilblain-like rash. Features such as microcephaly (47.62%), short stature (52.38%), liver dysfunction (42.11%), thyroid dysfunction (46.15%), positive autoimmune antibodies (66.67%), and elevated erythrocyte sedimentation rate (53.85%) were also found. The phenotypes of 2 cases fulfilled the diagnostic criteria for systemic lupus erythaematosus (SLE). One death was recorded. ISGs expression were elevated.ConclusionsAGS is a systemic disease that causes sequelae and mortality. A diagnosis of AGS should be considered for patients who have an early onset of chilblain-like rash, intracranial calcification, leukodystrophy, dystonia, developmental delay, positive autoimmune antibodies, and elevated ISGs, and for those diagnosed with SLE with atypical presentation who are nonresponsive to conventional treatments. Comprehensive assessment of vital organ function and symptomatic treatment are important.

Clinical Characteristics and Outcomes of Multiple Sclerosis and Neuromyelitis Optica Spectrum Disorder With Brainstem Lesions as Heralding Prodrome.

ObjectiveThe present study sought to differentiate multiple sclerosis and neuromyelitis optica spectrum disorder patients at their first attack by describing and distinguishing their clinical features, radiographic characteristics, and immunologic characteristics of serum and cerebrospinal fluid.MethodsWe retrospectively studied 58 patients with multiple sclerosis (MS) and 52 patients with neuromyelitis optica spectrum disorder (NMOSD) by referencing brainstem lesions as the prodromal events. Their demographics and presentation at the time of the first attack was evaluated including their gender, age, clinical features of the first attack, the expanded disability status scale (EDSS), brainstem lesion(s) by head MRI, and immunological indices of serum and cerebrospinal fluid.ResultsThe NMOSD group had more female patients (4.8 vs. 1.9, p < 0.05), and was older than the MS group (37.81 ± 16.60 vs. 27.57 ± 11.17, p <0.001). NMOSD patients also had a significantly higher association with autoimmune diseases or positive autoimmune antibodies (p < 0.01). There was no significant difference in the EDSS scores between the two groups (p = 0.420). Central hiccups, vomiting, and pyramidal tract signs were more common in the NMOSD group than the MS group (p < 0.001, p < 0.001, p < 0.01), while eye movement abnormalities were more common with MS (p < 0.01). There were no significant differences in other clinical manifestations such as vertigo, diplopia, limb weakness, numbness, and eating difficulty. MS patients were more likely to have midbrain and pons imaging lesions (p < 0.001, p < 0.001), while NMOSD patients had more lesions in the medulla oblongata (p < 0.001). The lesions in the MS group were mostly located in the periphery, while those in the NMOSD group were centrally located (p < 0.001, p < 0.001). Patchy lesions were more common in MS patients (p < 0.001), while large lesions were more common in the NMOSD group (p < 0.001). Finally, serum AQP4 Ab was found only in the NMOSD group (p < 0.001).ConclusionPatients with MS and NMOSD have differentiating clinical manifestations at the time of their first brainstem lesions which include central hiccups, vomiting, pyramidal tract signs, and abnormal eye movements. Additionally, distinct imaging manifestations such as lesion location(s) and morphology may also aid in the development of pathognomonic criteria leading to timely initial diagnosis of MS and NMOSD.

Clinical characteristics of 25 patients with type Ⅰ interferonopathies

Objective: To summarize the clinical characteristics of type I interferonopathies and provide clues for early identification and diagnosis. Methods: Clinical data of 20 patients admitted to Department of Pediatrics, Peking Union Medical College Hospital and 5 patients admitted to Department of Rheumatology and Immunology, Shenzhen Children's Hospital from January 2016 to September 2021 were retrospectively analyzed. The data included gene results, clinical manifestations and auxiliary examination results. Results: Of the 25 cases, 12 were males and 13 were females. Age of onset ranged from 1 day to 11 years. And 84% of them had the onset before the age of 3 years. The cases consisted of 14 cases of Aicardi-Goutières syndrome (AGS), 6 cases of adenosine deaminase 2 deficiency (DADA2), 3 cases of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI), and 2 cases of Spondyloenchondrodysplasia with immune dysregulation (SPENCDI). Eighteen patients (72%) experienced neurologic disorder, among whom 16 (64%) showed intracranial calcification, 11 (44%) had dystonia, 10 (40%) had leukodystrophy, 6 (24%) had epilepsy, 5 (20%) had brain atrophy and 5 (20%) had early-onset cerebrovascular events. Skin involvement occurred in 15 cases (60%), among whom 8 cases (32%) had chilblain-like rash, 4 cases (16%) had livedo reticularis, 3 cases (12%) had erythema, 2 cases (8%) had erythema nodosum and 2 cases (8%) had Raynaud's phenomenon. In addition, 12 cases (48%) had positive autoimmune antibodies, 10 cases (40%) manifested as developmental retardation, 8 cases (32%) experienced lung interstitial lesions, and 7 cases (28%) demonstrated thyroid dysfunction. And 1 died (4%) at 11 years of age. Conclusions: Type Ⅰinterferonopathies can involve multiple organs, and share the characteristics of systemic inflammatory and autoimmune diseases. The early-onset neurological symptoms (early-onset cerebrovascular events, intracranial calcification, leukodystrophy and cerebral atrophy), rashes (chilblain-like rash, livedo reticularis and erythema), positive autoimmune antibodies, developmental delay, interstitial lung disease and thyroid dysfunction may indicate type Ⅰ interferonopathies.

Association of increased C-Reactive Protein and hypocomplementemia with risk factors for thrombosis in women who have susceptibility for poor gestational outcome; importance of preconceptional counseling.

This study aimed to investigate the association of increased C-Reactive Protein (CRP) and hypocomplementemia with risk factors for thrombosis such as Factor V Leiden (FVLP) and Prothrombin G20210A polymorphisms (PP), increased Activated Protein C Resistance (APCR) and decreased anti-thrombin III (ATIII) activity in women who have metabolic (MTHFR polymorphisms) and immunological risk factors (autoimmune antibody positivity, autoimmune disorders, and chronic inflammatory diseases). All patients (n= 197) were evaluated in terms of risk factors for thrombosis including FVLP, PP, increased APCR, and decreased ATIII activity as well as CRP and complement (C) 3 and C4 levels within a framework of preconceptional care program. Patients with high CRP levels together with hypocomplementemia were included to the study group (n= 13), while women with normal levels of CRP, C3, and C4 were accepted as controls (n= 184). Decreased ATIII activity was found to be statistically more frequent in the study group compared to controls (p= 0.036). There were no significant differences between the study and control groups in terms of the presence of FVLP, PP and increased APCR (p= 0.386, p= 0.462, p= 0.625, respectively). Decreased ATIII activity should be the concern of preconceptional and antenatal care programs in risky patients with increased CRP levels and hypocomplementemia in order to prevent placental inflammation related gestational complications.

Association of Bacterial Vaginosis and Skin Disorders in Patients with Autoimmune Antibody Positivity

OBJECTIVE: To investigate the association of bacterial vaginosis and skin disorders in patients with autoimmune antibody positivity.STUDY DESIGN: This retrospective study consisted of 80 patients with autoimmune antibody positivity. All patients were evaluated for the presence of bacterial vaginosis and skin disorders. Cervicovaginal smears were used for the definitive diagnosis of bacterial vaginosis. RESULT: We found bacterial vaginosis in 13.75% (11/80) of the cases. 1 (9.1%) and 10 (90.9%) cases had skin disorders in bacterial vaginosis positive and negative groups respectively (p=0.531). CONCLUSION: There is no relationship between bacterial vaginosis and the presence of skin disorders in patients with autoimmune antibody positivity.

Echogenic Fetal Heart Without Conduction Defect in Maternal Autoimmune Disease: A Lesser Known Association

AbstractPositive anti-Ro/SSA and anti-La/SSB antibodies in pregnant mothers are strongly associated with fetal congenital heart block (CHB). Increased echogenicity of fetal endo-myocardium is one of the lesser known manifestations of maternal autoimmune disease. In this retrospective analysis of data from the last ten years (2010–2019) at our fetal medicine unit, we identified nine fetuses presenting in the second trimester with isolated increased echogenicity of the endo-myocardium without CHB. In three cases, mothers had a pre-existing autoimmune disease. The others were diagnosed with positive autoimmune antibodies following evaluation for the echogenic fetal heart. One fetus developed a first-degree heart block at 33 weeks and another had a second-degree heart block three weeks after presentation. There was no fetal mortality. All were live-born. One fetus with tachycardia and ventricular dysfunction died within a few days of birth. Both babies with heart block are stable and on medical follow-up, while others remain asymptomatic with a normal rhythm. There seems a spectrum of fetal disease caused by maternal auto-antibodies affecting the endo-myocardium but sparing the conduction system. In fetuses with echogenic hearts, evaluation of maternal autoimmune status should be part of the protocol for optimal fetal and maternal care.

Pachymeningitis in a Patient With Granulomatosis With Polyangiitis; A Case Report

Introduction: Granulomatosis with polyangiitis (GPA) is a systematic and necrotizing vasculitis with positive autoimmune antibodies. Some studies have reported the prevalence of eye involvement between 40%-50% of cases. Retro orbital granuloma is a rare complication of GPA which should be treated by surgical involvements, while pachymeningitis can be diagnosed by MRI and treated by medical management. In this study, we tried to present a case of GPA with optic neuritis and typical central nervous system (CNS) involvement, while there were no definite features of sinusitis or kidney injuries. Case Presentation: A 15-year-old girl was admitted because of blurred vision in her left eye. She was a known case of GPA three years ago with initial features, including left facial nerve paresis due to pan-sinusitis and pulmonary cavity. Neurologic evaluations, including sensory and motor features, were normal, too. Ophthalmologic examinations showed that visual acuity of the right eye was good, while the visual acuity in the left eye decreased to the point of finger counting at a distance of 20 cm. The left eye Marcus gunn test was positive (3+); anterior and posterior eye segments were normal. The patient was evaluated by brain MRI with gadolinium and a pathologic enhancement in the left cavernous was seen which had a pressure effect on the optic nerve. She was treated by intravenous methylprednisolone followed by rituximab. Conclusion: Reporting orbital mass in a patient who had GPA can be supposed as granuloma which needs a biopsy to confirm a diagnosis. In our case, the imaging manifestation was heterodox for granuloma, while neurosurgical consultation recommended drug treatment for pachymeningitis.

Clinical features, treatments, and outcomes of patients with anti-N-methyl-D-aspartate encephalitis-a single-center, retrospective analysis in China.

Objective: To describe the clinical features, laboratory data, treatment, and outcomes of anti-N-methyl-D-aspartate (NMDAR) encephalitis in Chinese patients. Methods: This retrospective study included hospitalized patients definitively diagnosed with anti-NMDAR encephalitis and positive for anti-NMDAR antibodies in the cerebrospinal fluid (CSF) in Shenzhen People's hospital, between November 2015 and February 2020. The clinical manifestation, laboratory data, treatments and outcomes were collected retrospectively. Patients were followed up for more than 1 year. Results: The study included 31 patients (15 men, 48.4%) with a median age of 31 years (interquartile range 21-48). The most common clinical presentations were psychosis (n = 23, 74.2%), seizures (n = 20, 64.5%), and memory impairment (n = 20, 64.5%). Total magnetic resonance imaging abnormalities were found in 11 patients (35.5%), with the medial temporal and frontal lobes as the most commonly involved. Abnormal electroencephalogram was observed in 16 patients (51.6%). Five out of 31 patients (19.5%) were diagnosed as neoplasm, including five females with ovarian teratoma and one male with a central nervous system tumor. Multiple immune antibodies, including anti-SSA antibody in four patients (15.4%), anti-Ro52 antibody in four (15.4%), antinuclear antibody (ANT) in four (15.4%), anti-thyroglobulin antibodies (TGAb) in five (17.2%), and thyroid peroxidase antibodies (TPOAb) in three (10.3%) were present. All patients received first-line immunization therapy (intravenous immunoglobulin, glucocorticoids, or plasmapheresis alone or combined), and only two patients (7.3%) received second-line immunization therapy (rituximab). Mechanical ventilation was more necessary in women (37.5%) than in men (6.7%) (p = 0.04), and 29 (93.5%) had favorable clinical outcomes. At more than 12 months of follow-up, the median modified Rankin Scale score decreased from 4 to 0. Conclusions: Patients with anti-NMDAR encephalitis in China had high rates of psychosis and seizures, with low rates of underlying neoplasms. A higher proportion of female patients required mechanical ventilation. Complications with other positive autoimmune antibodies were a common clinical symptoms of anti-NMDAR encephalitis. Majority of the patients obtained satisfactory outcomes in combination with early first-line and long-term immunization therapy.

Evaluation of Abbott anti-SARS-CoV-2 CMIA IgG and Euroimmun ELISA IgG/IgA assays in a clinical lab

BackgroundWe report our findings of test performance especially specificity of a fully automated Abbott Architect anti-SARS-CoV-2 CMIA IgG and Euroimmun anti-SARS-CoV-2 ELISA IgA/IgG in human plasma. MethodsWe used positive cohort of 97 samples from Covid-19 patients or healthcare workers, collected at late time points from symptom onsets. We also included another cohort of 215 samples as negative controls, 78 of which had positive serology test results of other infectious diseases or autoimmunity. Assay specificity was assessed by using a total of 847 anonymized samples which were collected before the Covid-19 pandemic from local patient populations seeking clinical care for rheumatoid diseases, thyroid cancer, and therapeutic drug monitoring. ResultsAbbott IgG, Euroimmun IgG/IgA had high precision, demonstrated by both intra- and inter-day CVs of <2%. There was no Abbott or Euroimmun IgG assay cross reactivity in the 78 samples with positive serology of non-SARS-CoV-2 infectious diseases and positive autoimmune antibodies. The Abbott IgG has specificity of 99.6%, while Euroimmun IgG and IgA were as high as 91.5% and 71.5%, respectively. ConclusionsOur evaluation confirmed high specificity of the Abbott IgG assay, while it was lower for Euroimmun IgG. Euroimmun IgA has suboptimal specificity which may limit its clinical use. Assay sensitivity was high for both Abbott and Euroimmun IgG assays.

Acrochordons and autoimmunity: Significance of preconceptional counseling.

Acrochordons are benign hypertrophic lesions of the skin of which the pathophysiology is unclear. This study aimed to examine the association of acrochordons with autoimmune disorders in patients with a poor obstetric history. This retrospective cohort involved 350 female patients with poor obstetric history who were included in a preconceptional care program to investigate risk factors for obstetric complications. These patients were further investigated for the co-existence of autoimmune disorders (defined by either a diagnosis of autoimmune diseases or autoimmune antibody positivity) and acrochordons. An autoimmune disorder was present in 55.7% (195/350) of the patients. The rate of acrochordons was significantly higher in patients with autoimmune disorders (n= 195) compared to the control group (n= 155) (8.21% versus 2.58%, respectively) (p= 0.043). When the autoimmune disease positive (n= 58) and autoimmune antibody-positive (n= 137) groups were separately analyzed, acrochordons were found more frequently in the autoimmune disease group (p= 0.004). However, there was no statistically significant co-occurrence of autoimmune antibody positivity and the presence of skin tags (p= 0.135). There may be immune system-related biological mechanisms underlying the pathogenesis of acrochordons. Preconceptional counseling is beneficial for women with poor obstetric history and acrochordons.

Effect of hypocomplementemia on perinatal outcomes of pregnancies with autoimmune disorders.

To demonstrate the effect of preconceptional complement levels on perinatal outcomes of pregnancies with autoimmune disorders. Pregnant women with autoimmune disorders (autoimmune disease and/or autoimmune antibody positivity) who were screened for complement levels (C3 and C4) prior to their pregnancies were enrolled in a special antenatal care program. These patients were administered low-dose low-molecular-weight heparin (enoxaparine, 1 × 2000 Anti-XA IU/0.2 mL/day), low-dose salysilic acid (100mg/day) and low-dose corticosteroid (methylprednisolone, 1 × 4mg/day orally) as soon as their pregnancies were confirmed according to the institutional protocol. We have compared hypo- and normocomplement pregnancies with autoimmune disorders in terms of their obstetric and perinatal outcomes. We have also used Beksac Obstetric Index (BOI) which is "[living child + (π/10)]/gravidity" for the comparison of their previous obstetric histories. Obstetric and neonatal outcomes showed no significant difference between hypocomplement patients (n= 38) and control group (n= 157) (p> 0.05). "Composite obstetric and perinatal adverse outcome" rates were 26.2% and 27.3% in study and control groups, respectively (p> 0.05). BOI was significantly lower in hypocomplement patients (p: 0.002). Then, we have classified hypocomplement patients into 3 subgroups according to the type of complement (C3, C4 or both). Comparison inbetween these groups revealed no statistical significance in any of the analyzed parameters (p> 0.05). Low complement levels in pregnant women with autoimmune disorders may be associated with gestational problems and poor obstetric history. Immunomodulatory treatment modalities such as ours may be beneficial for improving the obstetric and neonatal outcomes.

Is bacterial vaginosis associated with autoimmune antibody positivity?

To evaluate the association between bacterial vaginosis (BV) and autoimmune antibody positivity. We evaluated Papanicolaou-stained cervicovaginal smears of 210 patients with poor obstetric history who were admitted to a special preconception counselling programme. Cytological specimens with various types of microorganisms except for BV, epithelial cell abnormalities and other non-neoplastic findings, including inflammation were excluded from the cohort in addition to patients with autoimmune and chronic inflammatory diseases. The remaining study population (n=121) was divided into two groups of patients with autoimmune antibody positivity (study group, n=80) and patients without antibody positivity (control group, n=41). The rate of BV was demonstrated to be 13.8% and 2.4% in the study and control groups respectively (P=.042). We also demonstrated that the anti-nuclear antibody was positive in 58.3% of the cases with BV. BV was found more frequently in patients with autoimmune antibody positivity to a statistically significant degree.

Human papillomavirus infection and autoimmune disorders: a tertiary center experience.

This study aimed to investigate the relationship between HPV and autoimmune disorders. We retrospectively evaluated 62 women who had HPV-DNA positivity in terms of autoimmune disorders (autoimmune antibody positivity, chronic inflammatory diseases and autoimmune diseases). The patients were divided into two groups according to autoimmune disorder positivity (autoimmune positive (n=30), autoimmune negative (n=32)) and compared with each other in terms of single and multiple HPV-DNA types, high and low-risk HPV-DNA types, and Pap smear findings. We determined that 48.4% of the HPV-DNA positive patients had autoimmune disorders. We found that 15 of 62 (24.2%) women had more than one type of HPV and HPV type 16 was the dominant type in this study (58.2%). A total of 27.4% of HPV-DNA positive patients had abnormal cytological findings. There was no statistically significant difference between autoimmune groups in terms of the presence of high-risk HPV types, multiple HPV types and abnormal cytological findings (P=0.531, P=0.558 and P=0.234, respectively). The prevalence of autoimmune disorders was high among HPV-DNA positive women. On the other hand, the rate of high-risk HPV type positivity, multiple HPV infections and cytopathological findings were similar between the autoimmune positive and negative groups.

Spontaneous pregnancies in patients with at least one failed IVF cycle after the management of autoimmune disorders, hereditary thrombophilia, and methylation disorders.

Objective:This study aimed to describe the impact on achieving spontaneous pregnancy of treating patients with at least one failed in-vitro fertilization (IVF) cycle for autoimmune disorders, hereditary thrombophilia, and methylation disorders.Methods: Fifty-three patients who met the enrollment criteria seen between January 2007 and October 2017 were included in this retrospective cohort study. The patients were retrospectively assessed for the presence of hereditary thrombophilia, methylenetetrahydrofolate reductase (MTHFR) polymorphisms, serum vitamin B12/folate/homocysteine levels, and autoimmune antibody positivity. The required data were extracted from the institutional patient database. Statistical analyses were performed on Statistical Package for the Social Sciences (SPSS.22®). The Kolmogorov-Smirnov test was used to evaluate the distribution of the data, and since the data did not following a normal distribution, proportions and median (minimum-maximum) values were used.Results:The 53 patients included in the study had singleton pregnancies. The distribution of autoantibodies was as follows: thyroid peroxidase (n=17); antithyroglobulin (n=11); double-stranded DNA (n=4); antinuclear (n=8); anti-smooth muscle (n=1); and anticardiolipin IgG and IgM (n=1). Autoimmune diseases included Hashimoto's thyroiditis (n=23); SLE (n=7); Behcet's disease (n=1); Sjogren's syndrome (n=1); ulcerative colitis (n=1); and anti-phospholipid antibody syndrome (n=1). Ten patients had heterozygous Factor V Leiden thrombophilia; two had homozygous Factor 5 Leiden thrombophilia; and three had the prothrombin 20210A heterozygous mutation. Twenty-eight patients were positive for autoantibodies and hereditary thrombophilia and/or MTHFR polymorphisms.Conclusions:Evaluation and management of hereditary thrombophilia, MTHFR gene polymorphisms, and/or autoimmune conditions may be beneficial for patients with unexplained infertility.

PERIPHERAL EOSINOPHILIA IN GRANULOMATOSIS WITH POLYANGIITIS: A RARE CASE REPORT AND REVIEW OF LITERATURE

SESSION TITLE: Pulmonary Manifestations of Systemic Disease 2 SESSION TYPE: Med Student/Res Case Report PRESENTED ON: 10/09/2018 05:00 PM - 06:00 PM INTRODUCTION: Granulomatosis with polyangiitis (GPA, formerly Wegener's granulomatosis) and eosinophilic granulomatosis with polyangiitis (EGPA, formerly Churg-Strauss syndrome) are both ANCA- associated vasculitis of the small and medium sized vessels with involvement of the upper and lower respiratory tracts as well as the kidneys. GPA is typically characterized by sinusitis, alveolar hemorrhage, arthritis, and high titers of proteinase-3 antibodies (PR3-ANCA), whereas EGPA prominently showcases a history of atopy, asthma, and myeloperoxidase antibodies (MPO-ANCA) 1. EGPA typically features significant peripheral eosinophilia; however eosinophilia can also rarely be a feature of GPA. CASE PRESENTATION: 21-year-old Southeastern Asian male with PMH of latent tuberculosis status post treatment with Isoniazid, who presented with one week of hemoptysis and symmetrical polyarthralgias in bilateral knees and elbows. Patient denied a history of asthma, atopic disease, or sinusitis. On physical exam, patient had a temperature of 102.5 F, an effusion of the right elbow, petechial lesions on the extensor surfaces of both elbows and anterior aspects of interphalangeal joints, and vesicular breath sounds. Laboratory testing significant for leukocytosis, eosinophilia, elevated inflammatory markers and positive autoimmune antibodies, IgE of 773.3 IU/mL (normal range 0-100), sedimentation rate of 80 mm/h (normal range 0-15), RF of 46 IU/mL (normal <14) and positive PR3-ANCA (>150 units). Testing was negative for MPO-ANCA, strongyloides antibody, H. brazilienses antibody, stool Giardia antigen, stool ova and parasites. BMP revealed normal serum creatinine, and UA showed 1+ protein, 2+ blood. CXR showed bibasilar infiltrates. Chest CT showed patchy regions of ground glass opacities bilaterally (Fig 1). Renal biopsy showed crescentic and necrotizing glomerulonephritis of the pauci-immune subtype consistent with GPA (Fig 2-4). Patient received pulse steroids, then he was switched to Rituximab and oral prednisone. At 3 month follow up after discharge, his eosinophilia resolved and PR3-ANCA levels dropped to 4 mm/h. DISCUSSION: Eosinophils usually comprise 1 to 3% peripheral WBCs. Eosinophilia is found in many conditions, including atopic disorders, neoplasms, helminthic infections, various hematologic and autoimmune rheumatic disorders as well as secondary effects of medications 2. Peripheral eosinophilia is rare in GPA with only five cases of GPA with peripheral eosinophilia reported 3-6. When peripheral eosinophilia is present, alternative diagnoses should be considered as was done in our case. Treatment options are based on severity of the presentation. Severe disease are often treated with glucocorticoid plus cyclophosphamide or rituximab. Plasmapheresis is indicated in patients with rapidly declining kidney function, positive anti-GBM, or pulmonary hemorrhage CONCLUSIONS: GPA is a differential diagnosis of eosinophilia Reference #1: Masi AT, Hunder GG, Lie JT, et al. The American College of Rheumatology 1990 criteria for the classification of Churg-Strauss syndrome. Arthritis Rheum 33: 1094-1107, 1990 Reference #2: Rothenberg ME. Eosinophilia. N Eng J Med. 1998; 338:1592-1600 Reference #3: Potter MB, Fincher RK, Finger DR. Eosinophilia in Wegener's Granulomatosis. Chest 116: 1480-1483, 1999 DISCLOSURES: No relevant relationships by Melody Chin, source=Web Response No relevant relationships by Elie Jean, source=Web Response No relevant relationships by Roshan Patel, source=Web Response

Wilson\u2019s disease combined with systemic lupus erythematosus: a case report and literature review

BackgroundWilson’s disease (WD) is an inherited disorder in which defective biliary excretion of copper leads to its accumulation, particularly in the liver and brain. Systemic lupus erythematosus (SLE) is a multi-system disorder that can manifest in any system. Cases with concomitant WD and SLE, unrelated to treatment with penicillamine, have been rarely reported.Case presentationWe report a case of a young woman who had typical neuropsychiatric symptoms and laboratory tests results of WD. She also had concomitant massive hematuria and proteinuria, fever, multiple positive autoimmune antibodies, hypocomplementemia, abnormal lumbar puncture findings and evidence of Sjögren syndrome, which are all rare in WD. Hence, we considered the diagnosis of SLE. Tapering of steroid dosage also confirmed the diagnosis.ConclusionWilson’s disease and SLE have varied clinical manifestations. Herein, we reported a rare case in which the two conditions concomitantly existed. In clinical practice, differential diagnosis of the two diseases is necessary for patients with hepatic, neurological, and psychiatric manifestations.

Clinical features of autoimmune hepatitis patients with poor response to treatment

Objective: To investigate the clinical features of autoimmune hepatitis (AIH) patients with poor response to treatment. Methods: A total of 61 AIH patients were enrolled, among whom 49 (80.33%) achieved complete response (good response group) and 12 (19.67%) had incomplete response (poor response group). The two groups were compared in terms of clinical manifestations, laboratory markers, abdominal ultrasound findings, pathological features by liver biopsy, and response to treatment. Continuous data were expressed as mean ± standard deviation (x±s), and the t-test was used for comparison between groups; categorical data were expressed as rates or percentages, and the chi-square test was used for comparison between groups; a binary logistic regression analysis was used to determine influencing factors. Results: Most patients were female in both groups, and there were no significant differences in sex ratio, mean age of onset, and general status including extrahepatic autoimmune disease between the two groups. Compared with the good response group, the poor response group had significantly higher levels of alanine aminotransferase, aspartate aminotransferase, alkaline phosphatase (ALP), total bilirubin, immunoglobulin G, and immunoglobulin M (P < 0.05). Compared with the good response group, the poor response group had a significantly higher positive rate of autoimmune antibodies except anti-nuclear antibody (ANA), anti-smooth muscle antibody (SMA), antimitochondrial antibody (AMA), and AMA/M2 (75% vs 16.3%, P < 0.001), and there was a significant difference in the positive rate of gp210 antibody between the two groups (25% vs 0%, P < 0.01). There were significant differences between the poor response group and the good response group in the proportion of patients with liver cirrhosis (50.0 % vs 16.3%, P < 0.05) and splenomegaly (58.3% vs 22.4%, P < 0.05). The binary logistic regression analysis showed that a high serum level of ALP (odds ratio [OR] = 1.017, 95% confidence interval [CI] 1.001-1.033, P = 0.034), positive autoimmune antibodies except ANA, SMA, and AMA/M2 (OR = 70.842, 95% CI 2.132-2 354.371, P = 0.017), and liver cirrhosis (OR = 28.777, 95% CI 1.015-815.854, P = 0.049) were independent risk factors for initial treatment outcome. Conclusion: A high serum level of ALP, positive autoimmune antibodies except ANA, SMA, and AMA/M2, and liver cirrhosis are closely associated with poor response in AIH patients.

Analysis of Clinical Characteristics for 24 Cases of Nodal Marginal Zone Lymphoma.

Objective To summarize and investigate the characteristics of nodal marginal zone lymphoma (NMZL). <strong>Method</strong> The clinical data and laboratory characteristics of of NMZL patients admitted in our hospital between January 2002 and September 2013 were analyzed retrospectively. <strong>Results</strong> Twenty-four patients were enrolled in the study. The median age was 54.4 (28-70) years,and the male/female ratio was 1:1. Most of the patients (95%) had bone marrow involvement,40.9% (9/22) had elevated lactate dehydrogenase level,8.3% (2/24) had the positive expression of hepatitis C virus antibody,33.3% (6/18) had positive autoimmune antibodies,and 33.3% (8/24) had monoclonal immunoglobulins in the serum. All of the patients expressed CD19 and CD20 cell markers,whereas none of them expressed CD10 cell marker. The positive rate of CD5 marker was 10% (1/10),the positive rate of CD23 marker was 50% (5/10),whereas no patient had the expressions of both CD5 and CD23 at the same time. The total overall remission rate was 81.25%,and the total complete remission rate was 56.2%. The separate overall remission and complete remission rate had increasing trends in rituximab subgroup than subgroups without using rituximab(P=0.136,P=0.262).<strong>Conclusion</strong> NMZL has a low incidence and can be seen in both males and females. It often invades bone marrow. Rituximab may increase the response rate and even improve the progression free survival.