Systemic lupus erythematosus
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Systemic Lupus Erythematosus: An Overview
Introduction to Systemic Lupus Erythematosus (SLE)
Systemic lupus erythematosus (SLE) is a complex, chronic autoimmune disease characterized by the production of autoantibodies against nuclear antigens, leading to widespread inflammation and tissue damage1 2. The disease is highly heterogeneous, affecting multiple organs and presenting with a variety of symptoms, which makes diagnosis and management challenging1 2 3.
Epidemiology and Demographics
SLE predominantly affects women, particularly those of childbearing age, with a female to male ratio of approximately 10:11 2. The prevalence of SLE varies with ethnicity, with an overall estimate of about 1 per 1000 individuals1. Certain racial groups are more predisposed to developing SLE, highlighting the role of genetic factors in the disease2.
Pathogenesis and Genetic Factors
The pathogenesis of SLE involves a multifactorial interplay of genetic susceptibility, environmental triggers, and immune system dysregulation3 7. Genetic factors include both rare, inherited single-gene complement deficiencies and polygenic inheritance patterns2. Recent studies have identified several genetic loci associated with SLE, such as CDKN1B, TET3, CD80, DRAM1, and ARID5B, which are involved in cell-cycle regulation, autophagy, and DNA demethylation5. Environmental factors, including UV light exposure and infections like Epstein-Barr virus, also play a significant role in triggering the disease2 10.
Clinical Manifestations
SLE can affect virtually any organ system, with common manifestations including rash, arthritis, and fatigue1. More severe complications can involve nephritis, neurological issues, anemia, and thrombocytopenia1. The disease course is typically relapsing and remitting, with periods of exacerbation and relative stability1 2.
Diagnosis and Biomarkers
Diagnosis of SLE is primarily clinical, supported by the presence of autoantibodies such as anti-nuclear antibodies (ANA), which are positive in over 90% of patients1. Recent advances have identified a 93-gene signature (SLE MetaSignature) that distinguishes SLE from other autoimmune and inflammatory diseases and correlates with disease activity4. This signature includes genes related to nucleic acid biosynthesis and immunometabolism, providing potential biomarkers for diagnosis and disease monitoring4.
Treatment and Management
The management of SLE aims to control acute flares, minimize the risk of future flares, and manage chronic symptoms1. Treatment strategies include the use of hydroxychloroquine and non-steroidal anti-inflammatory drugs for milder disease, while corticosteroids and immunosuppressive therapies are reserved for major organ involvement1 6. Newer therapies, such as the anti-CD20 monoclonal antibody and belimumab, have been introduced for treatment-resistant cases1 2. Despite these advances, SLE continues to pose significant challenges due to its impact on mortality and morbidity, particularly from complications like cardiovascular disease and infections2 6.
Future Directions
Ongoing research aims to further understand the underlying immune mechanisms of SLE and develop more targeted therapies3 9. Advances in genetic and stem cell techniques hold promise for future treatments, potentially offering a cure for this complex disease2. Additionally, the identification of novel biomarkers and refinement of therapeutic strategies are expected to improve disease management and patient outcomes4 7.
Conclusion
Systemic lupus erythematosus is a multifaceted autoimmune disease with a complex interplay of genetic, environmental, and immunological factors. While significant progress has been made in understanding and treating SLE, ongoing research is crucial to uncovering new therapeutic targets and improving the quality of life for those affected by this challenging condition.
Sources and full results
Most relevant research papers on this topic
Orphanet Journal of Rare Diseases BioMed Central Review
SLE is a complex, multi-system disease with genetic and environmental factors playing a role in its pathogenesis, and treatment aims to manage acute periods, minimize flares, and control less life-threatening symptoms.
Highly CitedSystemic lupus erythematosus
Newer therapies and stem cell techniques may offer better outcomes for systemic lupus erythematosus, but challenges remain in diagnosis, treatment resistance, and potential cures.
Highly CitedIntegrated, multi-cohort analysis reveals unified signature of systemic lupus erythematosus.
The SLE MetaSignature identifies a 93-gene signature that distinguishes SLE from other autoimmune, inflammatory, and infectious diseases, and correlates with disease activity and inflammation.
Meta-Analysis
Rigorous JournalMeta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
Genetic variants in CDKN1B, TET3, CD80, DRAM1, and ARID5B are associated with systemic lupus erythematosus in Asians, suggesting potential roles in cell-cycle regulation, autophagy, and DNA demethylation.
Meta-AnalysisRigorous JournalHighly CitedSystemic lupus erythematosus: Diagnosis and clinical management.
SLE management involves lifestyle changes, prevention of comorbidities, immunomodulators, and targeted therapy, with potential new treatments in development.
Very Rigorous JournalHighly CitedSystemic lupus erythematosus: An update for ophthalmologists.
Recent advances in genetic and environmental factors influence systemic lupus erythematosus, and novel molecular biomarkers may aid in diagnosis and therapeutic development.
Systematic ReviewPathogenesis of Human Systemic Lupus Erythematosus: A Cellular Perspective.
The pathogenesis of systemic lupus erythematosus involves complex interactions of genetics, environment, and hormones, requiring tailored therapeutic approaches to overcome its complex mechanisms.
Highly CitedSystemic lupus erythematosus
Systemic lupus erythematosus is a complex disorder with diverse clinical features and causes, and new targeted biological approaches show promise for improved treatment.
Highly CitedInfectious processes and systemic lupus erythematosus
Infectious processes, particularly viruses, are frequently associated with systemic lupus erythematosus onset and exacerbation, with mechanisms underlying autoreactivity still unclear.
Rigorous JournalHighly Cited