Presentation Of Systemic Lupus Erythematosus Research Articles

Recurrent abdominal pain and vomiting with elevated triglyceride and positive antinuclear antibody in a girl aged 12 years.

A girl aged 12 years and 2 months presented with recurrent abdominal pain and vomiting for more than 2 years and arthrodynia for 3 months. She was diagnosed with recurrent acute pancreatitis with unknown causes and had been admitted multiple times. Laboratory tests showed recurrent significant increases in fasting serum triglyceride, with elevated immunoglobulin and positive antinuclear antibody. The girl was improved after symptomatic supportive treatment. The girl developed arthrodynia with movement disorders 3 months before, and proteinuria, hematuria, and positive anti-double-stranded DNA antibody were observed. The renal biopsy was performed, and the pathological examination and immunofluorescence assay suggested diffuse lupus nephritis (type Ⅳ). She was finally diagnosed with systemic lupus erythematosus (SLE), lupus nephritis (type Ⅳ), and recurrent acute pancreatitis. Pancreatitis was suspected to be highly associated with SLE. She was treated with oral hydroxychloroquine sulfate and intravenous methylprednisolone sodium succinate and cyclophosphamide. Arthrodynia was partially relieved. She was then switched to oral prednisone acetate tablets. Intravenous cyclophosphamide and pump infusion of belimumab were regularly administered. Now she had improvement in arthrodynia and still presented with proteinuria and hematuria. It is concluded that recurrent acute pancreatitis may be the first clinical presentation of SLE. For pancreatitis with unknown causes, related immunological parameters should be tested, and symptoms of the other systems should be closely monitored to avoid delaying the diagnosis.

Bullous systemic lupus erythematosus in females.

Bullous systemic lupus erythematosus (BSLE) is a rare blistering presentation of systemic lupus erythematosus, typically affecting women with the highest incidence in those of African descent. The key pathogenic insult includes the formation of autoantibodies against type VII collagen, which weaken the basement membrane zone and lead to the formation of subepidermal blisters. The acute vesiculobullous eruptions in BSLE generally tend to affect photo-distributed areas, although they can arise unrelated to sun exposure (eg, mucous membranes, axillae). The bullae can arise from erythematous macules, inflammatory plaques, or previously normal skin. Their appearance can range from small, grouped vesicles reminiscent of lesions in dermatitis herpetiformis to large, tense blisters, similar to bullous pemphigoid. Internal organ involvement occurs in up to 90% of those affected. This mostly includes lupus nephritis (classes III–V, lifetime prevalence of up to 90%), arthralgias/arthritis, and cytopenias, while serositis and neuropsychiatric involvement are rare. First-line management with dapsone should be considered in mild disease with stable underlying systemic lupus erythematosus. As discussed in this review, the off-label use of rituximab (an anti-CD20 B-cell depleting agent) has been shown to be safe and effective in several refractory cases of BSLE unresponsive to dapsone, glucocorticoids, or steroid-sparing immunosuppressants.

A case report: extremely severe pulmonary artery hypertension as an initial presentation of systemic lupus erythematosus in pregnancy

A 33-year-old G2 P1001 female at 13 weeks of gestation presented with dyspnea, tachycardia, and hypotension. Initial assessment revealed cardiogenic shock and acute respiratory failure caused by extremely severe pulmonary artery hypertension (PAH). Multidisciplinary efforts led to the diagnosis of severe PAH as an initial manifestation of systemic lupus erythematosus (SLE). Team care included gestational termination via dilation and curettage (D&C), followed by corticosteroids and vasodilator therapy, with excellent clinical and hemodynamic outcomes.

Systemic Lupus Erythematosus and Hereditary Coproporphyria: Two Different Entities Diagnosed by WES in the Same Patient

Background Hereditary coproporphyria (HCP) is a rare autosomal dominant disorder caused by a partial deficiency of coproporphyrinogen III oxidase (CPOX), and systemic lupus erythematosus (SLE) is an autoimmune disease with a strong genetic predisposition. SLC7A7 (solute carrier family 7 member 7) may be associated with monogenic lupus disease; however, only 2 cases of concomitant HCP and SLE have been reported. Methods We report a 30-year-old woman with a six-year history of SLE presenting with abdominal pain, vomiting, dysuria, tachycardia, and hyponatremia. Whole exome sequencing (WES) and Sanger sequencing were carried out for the proband and members of her pedigree to detect the genetic background. The Gene Expression Omnibus (GEO) database was used to search the related gene expression profiles. Differentially expressed genes (DEGs) were identified using GEO2R. Result A novel heterozygous splicing mutation of CPOX (NM_000097): c.700+2 T > C (intron 2) was detected by WES in the proband, and it was considered likely pathogenic (PSV1+PM2). Sanger sequencing verified the heterozygous mutation of CPOX in the proband, although it was not detected in her father. WES also identified 62 other gene variants, especially two heterozygous variants in SLC7A7 (NM_001126106): c.250G > A (p. V84I) and c.625+1G > A (splicing). DEGs were detected from GSE51997, and the expression of CPOX was downregulated in SLE patients compared with normal controls (adj. P = 0.0071, logFC = −1.0975). Conclusion This study presents the first reported case of SLE coexisting with HCP in China; moreover, a novel splicing mutation of CPOX, i.e., c.700+2 T > C (intron 2), and two heterozygous mutations of SLC7A7 were reported. The simultaneous mutations of CPOX and SLC7A7 may explain the etiopathogenetic connections of HCP and SLE.

An Incidental CT Scan Discovery of a Bilateral Renal Infarction in a Patient with Systemic Lupus Erythematosus Presenting with Acute Pancreatitis

Although patients with systemic lupus erythematosus, especially those with antiphospholipid antibodies, have a high incidence of arterial and venous thrombotic events, renal infarcts have been infrequently reported in these patients and are likely to be underestimated. In this paper, we report a case of multiple bilateral renal infarctions in a patient suffering from systemic lupus erythematosus, provide a brief insight into the clinical features and especially highlight the radiological aspects of this diagnosis.

Successful treatment of bullous lupus with corticosteroids and belimumab: A case report.

Cutaneous lupus erythematosus (CLE) is one of the most common manifestations of systemic lupus erythematosus (SLE), although it can manifest as an independent entity as well. Bullous systemic lupus erythematosus (BSLE) is a rare cutaneous manifestation of SLE presenting as tense vesiculobullous eruptions in a photosensitive distribution. Pathophysiology is secondary to autoantibodies against noncollagenous domain 1 and 2 (NC1 and NC2) type VII collagen, and histopathology reveals dense neutrophilic infiltration of the dermis with direct immunofluorescence showing IgG deposition at dermoepidermal junction. There is lack of data on available therapeutic options to treat BSLE, and varying responses to dapsone, methotrexate, azathioprine and corticosteroids have been reported. Belimumab, a fully humanised Change to Immunoglobulin G1λ (IgG1λ) monoclonal antibody targeting soluble B lymphocyte stimulator protein, was the first Food and Drug Administration-approved drug for SLE and has been reported to be effective for CLE. We present the case of a 41-year-old black female with SLE presenting with BSLE, who was successfully treated with corticosteroids and belimumab and did not experience disease relapse even after discontinuation of corticosteroids. To our knowledge, this is the first reported case of successful treatment of BSLE with belimumab, and further research can help determine the role of belimumab in the treatment of BSLE.

New-onset Systemic Lupus Erythematosus presenting with Macrophage Activation Syndrome and Diffuse Alveolar Hemorrhage: a case-based review

Macrophage activation syndrome is a form of secondary hemophagocytic lymphohistiocytosis in the setting of autoimmune diseases. It’s a rare, hyperinflammatory complication requiring prompt institution of therapy to prevent organ dysfunction and death. We report a young female presenting with macrophage activation syndrome with multiorgan failure and diffuse alveolar hemorrhage in the setting of inaugural systemic lupus erythematosus. The patient was successfully treated with steroids, plasma exchange and cyclophosphamide.

Comparison of clinical presentation and outcome of childhood-onset and adulthood-onset of systemic lupus erythematosus among Indonesian patients.

The clinical presentation of childhood-onset systemic lupus erythematosus (SLE) is generally perceived to differ from that of adult-onset SLE. We aimed to compare the demographic and clinical manifestation between childhood-onset vs. adult-onset SLE in a cohort of Indonesian patients at tertiary care centers. This retrospective study included patients in the Hasan Sadikin Lupus Registry from 2008 until December 2017. The demographics, clinical presentations, and outcomes were compared between childhood-onset SLE (<18years old) (Group 1) and adult-onset SLE (≥18years old) (Group 2). Eight hundred seventy patients were involved into this study. The proportion of childhood-onset SLE was 20% (174 patients). The mean age of group 1 versus group 2 was 13.56 ± 3.04 vs 30.41 ± 8.54years. The following clinical manifestations at SLE diagnosis were significantly more common in childhood-onset than in adult-onset SLE patients: hematological disorder (p = 0.033) and arthritis (p = 0.006). While discoid rash (p = 0.036) and photosensitivity (p < 0.001) were significantly found higher in adult-onset SLE. Cyclophosphamide therapy was significantly more common to be used in childhood-onset (38.5% vs 21.0%, p = <0.001). However, frequency of mortality on follow-up tended to be higher in childhood-onset group (11.5% vs 7.0%, p = 0.208). Arthritis and hematologic involvements at SLE diagnosis were more prominent in childhood-onset compared to adult-onset patients, and mortality in childhood-onset SLE during follow-up relatively higher. This data may suggest the need for more aggressive management approach to childhood-onset patients with SLE.

Frequency of Different Clinical Presentations of Systemic Lupus Erythematosus in Tertiary Care Hospital

Background: Systemic lupus erythematosus (SLE) is a multisystem, autoimmune, inflammatory disorder presenting with manifestations from various organ systems.&#x0D; Objective: To determine the frequency of clinical presentations in patients with systemic lupus erythematosus at tertiary care hospital&#x0D; Methodology: The cross-sectional study was conducted during 21st October 2018 to 20th April 2019 in the Department of Medicine Civil Hospital Karachi. Total 143 diagnosed patients were included. All patients were evaluated for the initial clinical manifestations including clinical investigations at presentation, Ocular, Mucocutaneous, Pulmonary, Cardiovascular, Gastrointestinal, Musculoskeletal, Hematological, Renal, Neuro Psychiatric, Gynaecological. Descriptive statistics were calculated and stratification was done. Post stratification chi square test was applied. p value≤0.05 was taken as significant.&#x0D; Results: There were 18.9% male and 81.1% female patient. Mean age was 32.36±9.92 years. Mean SLE duration was 8.16±2.22 months. 79.7% were married and 20.3% were unmarried. In this study among major findings, 52.4% patients were found with fever, 79% with fatigue, 79.7% with arthralgia, 66.4% with weakness, 71.3% with body ache, 35.7% with decreased appetite, 40.6% with headache, 60.1% with photosensitivity, 67.1% with malar rash, 67.1% with alopecia, 60.8% with oral ulcer, 52.4% with Raynaud’s phenomenon, 52.4% with nausea/vomiting, 33.6% with diarrhea, 31.5% with arthritis, 37.1% with muscle atrophy, 35.7% with osteoporotic fractures, 38.5% with hemolytic anemia.&#x0D; Conclusion: In this study, majority of patients presented with combination of fever, fatigue, arthralgia, weakness, body ache, photosensitivity, and malar rash.

Neuropsychiatric Systemic Lupus Erythematosus Presenting as Mania With Psychosis Treated Successfully With Intravenous Immunoglobulin: A Diagnosis of Associations and Exclusions.

Neuropsychiatric Systemic Lupus Erythematosus Presenting as Mania With Psychosis Treated Successfully With Intravenous Immunoglobulin: A Diagnosis of Associations and Exclusions.

Journey with a 21 weeks primi with acute massive pulmonary thromboembolism secondary to possible “Latent Lupus”: an audacious ride

In pregnancy, the incidence of pulmonary embolism (PE) is increased fivefold when compared to nonpregnant women of the same age, and PE is one of the leading causes of death during pregnancy. However, the diagnosis of PE among pregnant women is complicated by concerns regarding radiation exposure. Systemic lupus erythematosus (SLE) is an autoimmune disorder with a wide array of presentations and a predilection to affect women of certain ethnic backgrounds. The hallmark of the disease is multisystem involvement, dispersed in time and severity. Usual pulmonary involvement includes pleuritis, pleural effusions, pneumonitis, shrinking lung syndrome, pulmonary hypertension, and alveolar hemorrhage. Pulmonary embolism (PE) is a relatively unusual presentation of SLE. We report the case of a 20-year-old primi at 21 weeks gestation with an acute PE with central chest pain and shortness of breath. The absence of overt signs and symptoms and traditional risk factors prompted a fragmentary workup. This led to the detection of antibodies sensitive for SLE, in the absence of overt signs and symptoms. We revive the concept of latent lupus, a condition construed as early lupus. We firmly suspect direct causation between SLE and PE. Further studies are needed to establish pathogenesis to facilitate early diagnosis and prevent morbidity and mortality from PE. Due to persistent hypotension, thrombolytic therapy with streptokinase was administered and the clinical and hemodynamic response was excellent, with no maternal or fetal hemorrhagic complications. The clinical presentation of pulmonary embolism is sometimes camouflaged by the physiological changes that occur in pregnancy and diagnosis is often delayed by a reluctance to expose the fetus to ionizing radiation.

Diffuse Alveolar Hemorrhage: A Rare Fatal Complication of Systemic Lupus Erythematosus (A Report of Two Cases)

We report two Filipino women with systemic lupus erythematosus (SLE) who developed diffuse alveolar hemorrhage (DAH), a rare, life-threatening complication associated with a high mortality rate. DAH should be suspected in patients with SLE presenting with new pulmonary infiltrates, a decline in hemoglobin, hemoptysis, dyspnea, and persistent desaturation. The first patient is 23 years old and was diagnosed with SLE 8 years ago; initially presenting with malar rash, oral ulcers, nephritis, and positive antinuclear antibodies (ANA). She had a poorly controlled disease and was admitted for facial and bipedal edema due to lupus nephritis. She was given 1 gram of methylprednisolone intravenously (IV) for three consecutive days. She then became tachypneic producing bloody secretions, with desaturation and sudden decline in hemoglobin. She was given cyclophosphamide 1 gram IV and referred for plasmapheresis but eventually succumbed. The second patient is 56 years old with generalized body weakness. Laboratory workup showed nephritis, anemia, ANA, low C3, and high anti-dsDNA titers. Pulse methylprednisolone 1000 mg was initiated. However, there was new-onset hemoptysis and desaturation and the patient was intubated. Bronchoscopy revealed diffuse bleeding on the right middle lobe and she eventually expired. Both patients with active SLE nephritis presented in this study died within days of DAH diagnosis. Hence, aside from early recognition to improve outcomes we should anticipate its possible occurrence in patients with high disease activity.

A Contemporary Update on the Diagnosis of Systemic Lupus Erythematosus.

Systemic lupus erythematosus (SLE) is a complicated autoimmune disease with female susceptibility. It is characterized by over-activation of the immune system and deposit of autoimmune complex in multiple organs. High heterogeneity, unpredictable disease course of SLEas well as the lack of specific and sensitive biomarkers posed diagnostic challenges to clinicians.Despite the complicated clinical presentation and pathogenesis of SLE, research regarding this disease has made many significant breakthroughs over the past decades. Some new learning can potentially be translated into clinical practice. In addition, new classification criteria to increase diagnostic accuracy were defined in 2019 by the European League Against Rheumatism/American College of Rheumatology (EULAR/ACR). Real-world studies have accumulated evidence for the adoption of thisnew classification criteria. Abundant classification criteria, improved recognition of organ-specific manifestations, and updated knowledge about lupus autoantibodies enable earlier diagnosis andmore personalized medicine. Thus, it is important to update our knowledge about the latest clinical practices for lupus diagnosis. This review provides new insight into the diagnosis of SLE by summarizing recent advances in epidemiology, etiology, classification criteria, clinical manifestations, and study of autoantibodies.

Childhood Systemic Lupus Erythematosus: Presentation, management and long-term outcomes in an Australian cohort

Systemic Lupus Erythematosus (SLE) is a serious autoimmune disease often resulting in major end-organ damage and increased mortality. Currently, no data exists focussing on the presentation, long-term management and progression of SLE in the Australian paediatric population. We conducted the first Australian longitudinal review of childhood SLE, focussing on response to treatment and outcomes. Detailed clinical and laboratory data of 42 children diagnosed with SLE before 16years from 1998 to 2018 resident in Western Australia was collected. Data was collected at diagnosis and key clinical review time points and compared using the Systemic Lupus Collaborating Clinics (SLICC) and Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) criteria. End organ damage was assessed against Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (SDI). Incidence rates of disease complications and end organ damage were determined. Of the 42 children, 88% were female with average age at diagnosis of 12.5years. Indigenous Australians were over represented with an incidence rate 18-fold higher than non-Indigenous, although most children were Caucasian, reflecting the demographics of the Australian population. Median duration of follow-up was 4.25years. On final review, 28.6% had developed cumulative organ damage as described by the Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (incidence rate: 0.08/PY (95% CI 0.04-0.14)), and one child died. Twenty-nine children had renal involvement (incidence rate: 0.38/PY (95% CI 0.26-0.56)). Of the 27 patients with biopsy proven lupus nephritis, 70% had Class III or IV disease. Average length of prednisolone use from diagnosis was 32.5months. Hydroxychloroquine (n = 36) and mycophenolate mofetil (n =21) were the most widely used steroid sparing agents. 61.9% received rituximab and/or cyclophosphamide. This is the first longitudinal retrospective review of Australian children with SLE, with a markedly higher incidence in Indigenous children. Although improving, rates of end organ complications remain high, similar to international cohort outcomes. Longitudinal multi-centre research is crucial to elucidate risk factors for poor outcomes, and identifying those warranting early more aggressive therapy.

Bicytopenia Secondary to Autoimmune Myelofibrosis as the First Presentation of an Undiagnosed Systemic Lupus Erythematosus: A Rare Case Report

Bicytopenia Secondary to Autoimmune Myelofibrosis as the First Presentation of an Undiagnosed Systemic Lupus Erythematosus: A Rare Case Report

Variable presentations of systemic lupus erythematosus based on presence or absence of antidouble stranded DNA antibodies: A case series

Systemic lupus erythematosus (SLE) presents with diverse clinical features causing diagnostic challenges. Apart from the clinical features, autoantibodies are important for diagnosis along with certain laboratory parameters. Diagnosis is made with the European League against Rheumatism/American College of Rheumatology 2019 Criteria. The case series presented here signifies the correlation between anti ds DNA positivity and its association with poor prognosis and renal disease, whereas antidouble stranded DNA (anti-dsDNA) negativity may lead to lack of renal involvement and may be associated with polyserositis. The importance lies in the fact that these patients with anti-dsDNA negativity should be followed up for assessing conversion to positivity of anti-dsDNA, thus altering the prognosis and leading to renal involvement. Moreover, anti-SSA positive SLE patients must be followed up for possible development of sicca symptoms.

Fever: A diagnostic dilemma

Fever is one of the most common presentations of Systemic Lupus Erythematosus (SLE) (95%) but it is also associated with other manifestations. A 32-year-old female patient who presented with chief complaints of fever and burning micturition and during the course of the stay developed different manifestations like facial rash, leukopenia, proteinuria, and SLE was diagnosed on the antinuclear antibody (ANA) profiling of the patient and the clinical criteria. Here we present a case where the patient presented mainly with urinary tract infection which in turn acted as a trigger for immune reaction leading to the full-blown SLE.

Thrombotic thrombocytopenic purpura as initial presentation of systemic lupus erythematosus.

Thrombotic thrombocytopenic purpura as initial presentation of systemic lupus erythematosus.

Systemic lupus erythematosus presenting as Guillain‒Barre syndrome

A 37-year-old male patient presented with acute symmetrical ascending areflexic flaccid quadriparesis progressive in nature for the past 6 days before admission preceded by tingling sensation in both hands and feet with the right-sided lower motor type of facial nerve palsy for 2 days. Clinically, this was consistent with Guillain–Barre (GB) syndrome and was given intravenous immunoglobulin (IVIG). Cerebrospinal fluid study and nerve conduction study also supported the clinical diagnosis of GB syndrome. He developed Type 2 respiratory failure on the 4th day of admission for which he was intubated. After successful extubation, his weakness even worsened markedly despite IVIG therapy and was subjected to plasmapheresis following which the weakness improved remarkably. On further investigation for the associated fever, arthralgia, pallor, nephritis, antinuclear antibody (3+ coarse speckled pattern), anti-smith antibody, and anti-dsDNA antibody positivity were detected with low serum complement levels, and renal biopsy revealing class III lupus nephritis. He was put on oral corticosteroids and cyclophosphamide which resulted in further clinical improvement. The initial presentation of GB syndrome of systemic lupus erythematosus is uncommon and makes this case interesting.

Systemic lupus erythematosus presenting as unprovoked brachio-cephalic vein thrombosis: A case report

Systemic lupus erythematosus presenting as unprovoked brachio-cephalic vein thrombosis: A case report