Examining the Clinical Insights Into the Diagnosis of Systemic Lupus Erythematosus in a 7-year-old Patient: A Case Report and Literature Review

Objectives The objective of this study is to investigate differences in the diagnosis and management of systemic lupus erythematosus (SLE) by primary care and specialist physicians in a population-based registry. Methods This study includes individuals from the 2009 Indian Health Service lupus registry population with a diagnosis of SLE documented by either a primary care provider or specialist. SLE classification criteria, laboratory testing, and medication use at any time during the course of disease were determined by medical record abstraction. Results Of the 320 individuals with a diagnosis of SLE, 249 had the diagnosis documented by a specialist, with 71 documented by primary care. Individuals with a specialist diagnosis of SLE were more likely to have medical record documentation of meeting criteria for SLE by all criteria sets (American College of Rheumatology, 79% vs 22%; Boston Weighted, 82% vs 32%; and Systemic Lupus International Collaborating Clinics, 83% vs 35%; p < 0.001 for all comparisons). In addition, specialist diagnosis was associated with documentation of ever having been tested for anti-double-stranded DNA antibody and complement 3 and complement 4 ( p < 0.001). Documentation of ever receiving hydroxychloroquine was also more common with specialist diagnosis (86% vs 64%, p < 0.001). Conclusions Within the population studied, specialist diagnosis of SLE was associated with a higher likelihood of having SLE classification criteria documented, being tested for biomarkers of disease, and ever receiving treatment with hydroxychloroquine. These data support efforts both to increase specialist access for patients with suspected SLE and to provide lupus education to primary care providers.

Antibodies to native DMA and serum complement (C3) levels: Application to diagnosis and classification of systemic lupus erythematosus

Introduction: Among the wide variety of clinical manifestations in Systemic Lupus Erythematosus (SLE), cognitive dysfunction (CD) is a subtle finding, where the reported prevalence ranges from 3-88% due to CD assessment inconsistencies and challenges with SLE correlations. Cognitive dysfunction may also be a cornerstone element for a diagnosis of Neuropsychiatric Systemic Lupus Erythematosus (NP-SLE). We present a case of Lupus Cerebritis displaying seizures and oculomotor dysfunctions referred to as Balint Syndrome. To our knowledge, no publications to date have shown a correlation between Lupus Cerebritis and Balint Syndrome. Case Report: A 35-year-old female with a history of lupus, seizures, and migraines presented complaining of a severe headache associated with vomiting. The patient stated the onset of her symptoms was three days prior and had been worsening. While in the emergency room, the patient had a generalized tonic-clonic seizure lasting around 2 minutes at which point neurology was consulted for seizure management. The patient had been seen about a year prior for similar complaints and was started on Keppra to control her epilepsy. The patient was seizure free for about 6 months so Keppra was discontinued. Discussion: A wide array of symptoms are associated with Lupus Cerebritis, which is a rare manifestation following a diagnosis of SLE. Our patient was having seizures and complaints of migraine with severe Balint Syndrome consisting of oculomotor apraxia, optic ataxia, and simultagnosia. Due to some patients’ rapid decline following a diagnosis of SLE and the complex diversity of symptoms, it is crucial to prevent organ failure by treating them immediately, and furthermore, to equip and educate clinicians in identifying atypical presentations. Conclusion: Due to the complexity of autoimmune diseases, patients may present with a plethora of symptomatology, ranging from mild to severe, making a thorough medical history and physical examination imperative elements of a complete workup. Since NP-SLE is a nuanced diagnosis requiring specific management, it is essential to have close follow-ups with neurology.

Systemic lupus erythematosus (SLE) is a multisystem complex autoimmune disease that often mimics symptoms of other illnesses, which complicates the ability of healthcare providers to make the diagnosis. The objective of this study was to assess clinical outcomes, resource utilization, and costs between patients with earlier versus later SLE diagnosis. Patients aged 18-64years were identified from a large US commercial claims database between January 2000 and June 2010. Confirmed SLE diagnosis with a claims-based algorithm required either three or more claims for a visit to a rheumatologist on separate dates with an SLE diagnosis (International Classification of Diseases [ICD-9] code 710.0x), two or more claims for visits to a rheumatologist at least 60days apart with SLE diagnoses, or two or more claims for visits to rheumatologist less than 60days apart with SLE diagnoses with at least one dispensing for a typical SLE medication. SLE probable onset date was identified during the 12-month baseline period by the second claim for antinuclear antibody tests or prodromal symptoms of SLE. Patients were stratified into early or late diagnosis groups based on time between probable SLE onset and diagnosis (<6months or ≥6months, respectively). Each patient observation period began on the date of the first medical claim, with a diagnosis code for SLE that satisfied the inclusion criteria, and ended on the earliest date between health plan disenrollment and 30 June 2010. Patients in each group were propensity-score matched on age, gender, diagnosis year, region, health plan type, and comorbidities. Flare rates and resource utilization were compared post-diagnosis between groups using rate ratios. All-cause and SLE-related costs (adjusted to 2010 US dollars) per patient per month (PPPM) were calculated. There were 4,166 matched patients per group. Post-SLE diagnosis, the early diagnosis group had lower rates of mild (rate ratio [RR]0.95; 95% CI 0.93-0.96), moderate (RR0.96; 95% CI 0.94-0.99), and severe (RR0.87; 95% CI 0.82-0.93) flares compared with the late diagnosis group. The rates of hospitalizations (RR0.80; 95% CI 0.75-0.85) were lower for the early diagnosis group than the late diagnosis group. Compared with late diagnosis patients, mean all-cause inpatient costs PPPM were lower for the early diagnosis patients (US$406 vs. US$486; p=0.016). Corresponding SLE-related hospitalization costs were also lower for early compared with late diagnosis patients (US$71 vs. US$95; p=0.013). Results were consistent for other resource use and cost categories. Patients diagnosed with SLE sooner may experience lower flare rates, less healthcare utilization, and lower costs from a commercially insured population perspective. This finding needs to be further explored within the context of background SLE disease activity.

Introduction: Cardiac arrest (CA) has been linked with worse outcomes in patients with chronic medical conditions such as chronic obstructive pulmonary disease, chronic kidney disease, diabetes mellitus, hypertension, and coronary artery disease. Autoimmune diseases such as systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) have been linked to increased risk of cardiovascular diseases, but their effect on the outcome of CA is not well studied. Aim: This study aimed to evaluate the effect of SLE and RA on the outcomes of admitted CA patients. Methodology: We identified all adult CA hospitalizations in the US between 2016 and 2020 using the National Inpatient Sample database and categorized them based on RA and SLE diagnoses. We applied logistic regression analysis to study the effects of SLE or RA diagnosis on CA outcomes, with a p-value threshold of 0.01. Results: A total of 1,099,235 adults were admitted with CA between 2016 to 2020. There were 5745 and 16920 patients with SLE and RA diagnoses among CA hospitalizations, respectively. Among CA patients, the mean age was 54.4 vs. 70.5 years among SLE and RA groups. CA patients with SLE diagnosis had 18% higher odds of in-hospital mortality (OR: 1.18 [1.04-1.34]; p=0.008), similar to those with RA diagnosis (OR:1.16 [1.08-1.24]; p&lt;0.001) when compared to those without SLE or RA. Unlike RA, the SLE effect persisted (AOR:1.44 [1.26-1.64]; p&lt; 0.001) after adjusting for sociodemographic factors (such as age and sex) and other co-morbidities (for RA, AOR: 1.09 [1.01-1.18]; p=0.023). Further analysis to determine if this reported mortality effect of SLE on CA patients is explainable by a general SLE mortality revealed that the interaction of SLE and CA is associated with higher mortality in the broader adult patient population, independent of CA or SLE alone (OR:1.52 [1.34-1.71]; P&lt;0.001). This synergistic effect persisted after controlling for comorbidities and sociodemographic factors (AOR: 1.9 [1.66-2.27]; p&lt; 0.001). RA or SLE diagnosis were not associated with acute heart failure, cardiogenic shock, and acute kidney injury outcomes in CA patients. Conclusion: Our findings suggest an adverse clinical interaction between SLE and CA that is independent of CA or SLE alone, and also independent of other comorbidities and sociodemographic factors. More research is needed to further explore the potential mechanisms involved.

The diagnosis of Systemic Lupus Erythematosus (SLE) is challenging due to its heterogeneous clinical presentation and the lack of robust biomarkers to distinguish it from other autoimmune diseases. Further, currently used laboratory tests do not readily distinguish active and inactive disease. Several groups have attempted to apply emerging high throughput profiling technologies to diagnose and monitor SLE. Despite showing promise, many are expensive and technically challenging for routine clinical use. The goal of this work is to develop a better diagnostic and monitoring tool for SLE. We report a highly customisable antibody microarray that consists of a duplicate arrangement of 82 antibodies directed against surface antigens on peripheral blood mononuclear cells (PMBCs). This high-throughput array was used to profile SLE patients (n = 60) with varying disease activity, compared to healthy controls (n = 24), patients with rheumatoid arthritis (n = 25), and other autoimmune diseases (n = 28). We used a computational algorithm to calculate a score from the entire microarray profile and correlated it with SLE disease activity. Our results demonstrate that leukocyte-capture microarray profiles can readily distinguish active SLE patients from healthy controls (AUROC = 0.84). When combined with the standard laboratory tests (serum anti-dsDNA, complements C3 and C4), the microarrays provide significantly increased discrimination. The antibody microarrays can be enhanced by the addition of other markers for potential application to the diagnosis and stratification of SLE, paving the way for the customised and accurate diagnosis and monitoring of SLE.

The risk factors for incident seizures in systemic lupus erythematosus (SLE) were prospectively determined in a cohort study. A total of 2203 patients with SLE followed longitudinally in the Hopkins Lupus Cohort were analyzed. Demographic variables, clinical manifestations, laboratory tests, and SLE disease activity were recorded at each quarterly visit. Adjusted estimates of association of risk factors for onset of seizure were derived using pooled logistic regression. We examined incident seizures in 3 ways: at the time of diagnosis, more than 45 days after the diagnosis of SLE, and after cohort entry. Of 2203 patients with no history of seizure prior to SLE diagnosis, 157 (7.13%) had the first seizure occurrence at the time of (37 patients, 1.68%) or after diagnosis (120 patients, 5.45%) of SLE. The risk of seizure occurring around the time of SLE diagnosis was higher in patients with a history of malar rash (p = 0.002), proteinuria (p = 0.004), and psychosis (p < 0.001). Multivariable analysis of the first seizure occurring after the diagnosis of SLE showed that history of low C3 (p = 0.0078), psychosis (p < 0.0001), cranial or peripheral neuropathy (p = 0.0043), anti-Sm antibody (p = 0.0551), renal involvement (p = 0.0177), and current corticosteroid dose (p < 0.0001) were independently associated with a higher incidence of seizure. Disease activity was not predictive after adjusting for corticosteroids. Risk of seizure after diagnosis of SLE is increased in those patients with prior psychosis, neuropathy, proteinuria, anti-Sm, low C3, and use of corticosteroids.

The diagnosis, management and treatment of systemic lupus erythematosus (SLE) in clinical settings often involve serological measures of autoantibodies, specifically the anti-double stranded DNA and generally the anti-nuclear autoantibodies (ANA). It remains to be shown, however, whether these serological measures correspond with the severity classification of SLE, particularly among Iraqi patients. Here, we investigated the relationship between serological measurements of autoantibodies and complement proteins with severity classification of SLE patients. Sixty patients clinically diagnosed with SLE, along with 60 age-matched non-SLE individuals (control) were recruited in the study. Serum levels of ANA, anti-dsDNA, complement C3 and C4 were measured. The SLE patients had significantly higher mean values of ANA, anti-dsDNA, with significantly lower levels of C3 and C4 compared to those of the control (non-SLE). With respect to their SLE disease severity classification, while levels of ANA significantly increased with severity of disease (mild, 7.99±0.65 IU/mL; 9.83±0.93 IU/mL; severe, 13.70±1.60 IU/mL; p = 0.004), levels of anti-dsDNA despite increasing (mild, 33.38±2.18 IU/mL; moderate, 39.32±2.28 IU/mL; severe, 42.84±4.80 IU/mL), were not statistically significant (p = 0.101). (p &lt; 0.05). Conversely, levels of C3 (mild, 1.19±0.05 g/L; moderate, 0.98±0.11 g/L; severe, 0.72±0.17 g/L; p = 0.009) and C4 (mild, 0.32±0.02 g/L, moderate, 0.29±0.03 g/L; severe, 0.16±0.03 g/L; p = 0.002) significantly decreased with disease severity (p &lt; 0.05). Our findings show that although ANA and anti-dsDNA autoantibodies may be important in the diagnosis of SLE, their use in predicting the severity of the disease varies considerably, while also highlighting, the significance of complement components C3 and C4 in monitoring and predicting the severity of the disease in addition to their role in the diagnosis of SLE.

The course of juvenile-onset systemic lupus erythematosus may vary, from rapid multiorgan involvement to insidious development mimicking different medical conditions. Depressive disorder in adolescents poses considerable diagnostic difficulties due to the natural tendency to lowered mood in this age group. However, it may also be the manifestation of a systemic disease. We present a case of a 16-year-old female patient without any somatic symptoms in whom severe depression resistant to treatment was the preceding symptom of juvenile-onset systemic lupus erythematosus (jSLE). Because of isolated proteinuria and presence of antinuclear antibodies, renal biopsy was performed. Light microscopy showed only findings characteristic for membranous nephropathy. Examination on electron microscopy showed characteristic tubuloreticular inclusions (TRIs) which were crucial for making the diagnosis of systemic lupus erythematosus. The evaluation of renal biopsy specimens by electron microscopy could be a useful diagnostic step to confirm the diagnosis, especially in difficult cases where the criteria for SLE are not fully met. The association of mental symptoms with systemic lupus erythematosus and other autoimmune disorders is well documented. However, the increasing prevalence of depression in children and adolescents poses a risk of delaying the diagnosis of a systemic disease.

Initial clinical presentation of Systemic Lupus Erythematosus (SLE) is varied as it affects various organs in the body. While the typical presentation of SLE is mucocutaneous, musculoskeletal and haematological manifestation, gastrointestinal (GI) manifestation is a rare initial presentation of SLE. We discuss the case of a 13-year-old girl who was diagnosed with SLE after she presented with isolated gastrointestinal symptoms. She presented with vomiting, diarrhoea, mild colicky abdominal pain and bilateral ankle oedema; and was treated as acute gastroenteritis. She returned after one week with worsening symptoms. Her full blood count showed bicytopenia; urinalysis had proteinuria and haematuria, and renal profile revealed acute on chronic kidney injury which triggered suspicions of a more serious disease rather than simple viral gastroenteritis. Further investigations of positive anti-nuclear antibody, low complements and positive Coombs’s test supported the diagnosis of SLE. The diagnosis of SLE was confirmed when her renal biopsy reported crescentic lupus nephritis ISN/RPS Class IV. Additional investigation to investigate the cause of her gastrointestinal symptoms included an ultrasound abdomen which showed minimal ascites and bilateral renal parenchymal disease. She was planned for colonoscopy but due to the unavailability of paediatric endoscopy, colonoscopy was postponed. However, her symptoms markedly improved with intravenous Cyclophosphamide which supported the diagnosis of GI SLE. This case report is to highlight that a patient with symptoms of simple viral gastroenteritis might have a more serious underlying disease. Even though rare, SLE can present with gastroenteritis symptoms and is one of the differential diagnoses that should be considered.

Systemic lupus erythematosus (SLE) is an autoimmune disease affecting multiple systems, and its various symptoms are often mistaken for other diseases. This case report describes a 15-year-old girl who presented to the emergency department with complaints of diffuse abdominal pain, facial swelling, joint pain, low-grade fever, and rash. An initial autoimmune process was suspected, and, with prompt referral, a diagnosis of SLE was confirmed. This case report and discussion review the difficulty of diagnosing SLE and the importance of maintaining autoimmune diseases, such as SLE, on an emergency physician's differential.

Data on the onset of lupus manifestations across multiple organ domains and in diverse populations are limited. The objective was to analyze racial and ethnic differences in the risk of end-organ lupus manifestations following systemic lupus erythematosus (SLE) diagnosis in a multiethnic cohort. The California Lupus Epidemiology Study (CLUES) is a longitudinal study of SLE. Data on major end-organ lupus manifestations were collected and categorized by organ system: renal, hematologic, neurologic, cardiovascular, and pulmonary. Multiorgan disease was defined as manifestations in ≥2 of these distinct organ systems. Kaplan-Meier curves assessed end-organ disease-free survival, and Cox proportional hazards regression estimated the rate of end-organ disease following SLE diagnosis, adjusting for age at diagnosis, sex, and self-reported race and ethnicity (White, Hispanic, Black, and Asian). Of 326 participants, 89% were female; the mean age was 45 years. Self-reported race and ethnicity were 30% White, 23% Hispanic, 11% Black, and 36% Asian. Multiorgan disease occurred in 29%. Compared to White participants, Hispanic and Asian participants had higher rates, respectively, of renal (hazard ratio [HR] 2.9 [95% confidence interval (95% CI) 1.8-4.7], HR 2.9 [95% CI 1.9-4.6]); hematologic (HR 2.7 [95% CI 1.3-5.7], HR 2.1 [95% CI 1.0-4.2]); and multiorgan disease (HR 3.3 [95% CI 1.8-5.9], HR 2.5 [95% CI 1.4-4.4]) following SLE diagnosis. We found heightened risks of developing renal, hematologic, and multiorgan disease following SLE diagnosis among Hispanic and Asian patients with SLE, as well as a high burden of multiorgan disease among CLUES participants.

Rationale:Systemic lupus erythematosus (SLE) is a rare but serious autoimmune disorder that can present with diverse clinical manifestations, often making diagnosis challenging, particularly in pediatric patients. While thrombocytopenia is a known hematological manifestation of SLE, its occurrence as the sole initial symptom is uncommon.Patient Concerns:An 11-year-old male presented with a 2-week history of painless localized bleeding, ecchymosis, and petechiae. He also experienced mild knee joint pain but had no fever, weight loss, or other systemic symptoms. Despite initial treatment for immune thrombocytopenia (ITP), his platelet count remained persistently low, raising concern for an underlying autoimmune etiology.Diagnosis:After a thorough workup, including negative blood cultures and a bone marrow biopsy that revealed megakaryocytic thrombocytopenia, autoimmune testing revealed elevated antinuclear antibodies, antidouble-stranded DNA, and decreased complement C4 levels, leading to a diagnosis of childhood-onset SLE with isolated hematologic involvement.Intervention:The patient was initially treated with intravenous immunoglobulin for the management of ITP. Following the diagnosis of SLE, he was started on hydroxychloroquine, followed by azathioprine for immunosuppression. Inflammatory control was further achieved with prednisone therapy due to persistent hematologic symptoms.Outcome:The patient’s platelet count improved to 150,000/μL after 6 months of treatment. And the other laboratory was unremarkable, indicating effective management of SLE. The patient remained free of other organ involvement during follow-up.Lessons:This case emphasizes the importance of considering SLE in the differential diagnosis of pediatric patients with isolated ITP, especially when the clinical picture is atypical. Early autoimmune screening, including testing for antinuclear antibodies and double-stranded DNA, can facilitate early diagnosis and timely intervention.

Systemic lupus erythematosus (SLE) can affect all heart structures including the conduction system, with either reversible or permanent derangement. However, only a few cases of adult SLE and complete atrioventricular (AV) block have been reported. We describe a young pregnant woman who initially presented with complete AV block on electrocardiography before the diagnosis of SLE. Syncope subsequently developed during the postpartum period due to frequent nonsustained polymorphic ventricular tachycardia, suggesting lupus myocarditis. The ventricular arrhythmia was successfully treated by intravenous corticosteroids, lidocaine and implantation of a permanent pacemaker. This may represent the first report of complete AV block with polymorphic ventricular tachycardia, which was identified before the other clinical features of SLE fully manifested. SLE should be considered if a patient presents with complete AV block without other clinical features. It may warn for early diagnosis and appropriate treatment of SLE including lupus-related heart disease.

Systemic lupus erythematosus (SLE) is a quintessential autoimmune disease once thought to be rare in Africans. It may affect any organ or tissue, synchronously or asynchronously. Neuropsychiatric manifestations of SLE (NPSLE) range from headaches, mood/behavioral disorders to seizures. There are documented reports of seizures accompanying the diagnosis of SLE, with varying prevalence according to specific regions. However, seizures rarely precede the diagnosis of SLE. We present a case report of a 19-year-old female with new-onset focal seizures preceding overt clinico-laboratory diagnosis of anti-dsDNA negative SLE. It may be important to recognize SLE as a potential cause of adult-onset seizures in female subjects to allow early recognition and improved care. Baseline ANA may be a viable screening tool as part of the work up for Adult onset seizure disorders especially in females, in the absence of offending drugs, known metabolic or structural disease.