Lupus | Systemic lupus erythematosus | Lupus nephritis | Neonatal lupus | Discoid lupus
Summary
Systemic Lupus Erythematosus
Lupus is a disease that occurs when your body's immune system attacks your own tissues and organs (autoimmune disease). Inflammation caused by lupus can affect many different body systems — including your joints, skin, kidneys, blood cells, brain, heart and lungs.
Lupus can be difficult to diagnose because its signs and symptoms often mimic those of other ailments. The most distinctive sign of lupus — a facial rash that resembles the wings of a butterfly unfolding across both cheeks — occurs in many but not all cases of lupus.
Some people are born with a tendency toward developing lupus, which may be triggered by infections, certain drugs or even sunlight. While there's no cure for lupus, treatments can help control symptoms.
SLE is the most common form of lupus in which the immune system attacks its own healthy tissues resulting in widespread inflammation and tissue damage of joints, skin, brain, lungs, kidneys, and blood vessels.
Symptoms
Systemic Lupus Erythematosus
Fatigue
Fever
Joint pain, stiffness and swelling
Butterfly-shaped rash on the face that covers the cheeks and bridge of the nose or rashes elsewhere on the body
Skin rashes, fatigue, low fevers, pain or swelling of the joints, lung problems, kidney problems, and heart problems.
Diagnostic Criteria
None. (Aggarwal et al, 2015)
Study Classification Criteria
The American College of Rheumatology and the European League Against Rheumatism joined forces and revised their study classification criteria in 2010. A score greater than or equal to 10 with the simplified scoring system located in the far righthand column meets the research study classification criteria for Systemic Lupus Erythematosus.
(Aringer et. al, 2019)
Diagnostic Tests
Under Investigation
Organized Autoimmunity
(Alternative Autoimmune Disease Classification: FIEM, MIEM or BIEM)
sex predominance (is an autoimmune disease primarily found in genetic Females, Males, or equally in Both?)
Female, Male, or Both. Under Investigation.
Inherited gene variations that cause increased susceptibility
Human Leukocyte Antigen (HLA) Associations
Under Investigation
Other Gene Variations (mutations)
cytotoxic T-lymphocyte associated protein 4 (CTLA4) gene. “This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The membrane-bound isoform functions as a homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases.” (National Institutes of Health, 2023)
protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene (National Institutes of Health, 2022)
signal transducer and activator of transcription 6 (STAT6) gene (Johar et. al, 2015).
Gene Triggering Environmental Exposures
Infections
COVID-19 (Metyas et. al, 2022 documented one case of cutaneous lupus following COVID-19 infection) (Chang et. al, 2023, found a significantly higher risk of Systemic lupus erythematosus following COVID-19 infection in a study of 3,814,479 participants)
Toxins
Under Investigation
Stress
Under Investigation
Multiple interactive and destructive immune system pathologies
Under Investigation
Tissue-Type or Cell-Type Attacked
Systemic Lupus Erythematosus
(2021, Rojas et. al)
PPV: positive predictive value (the probability that a patient with a positive (abnormal) test result actually has the disease). NPV: negative predictive value (the probability that a person with a negative (normal) test result is truly free of disease). (1999, NY State Department of Health). AUC: area under the curve.
Attacking Immune Cell Type or Process
Under Investigation
Treatment(s)
Under Investigation
Managing Specialist(s)
Under Investigation
Research Authors
Under Investigation
Research Institutions
Under Investigation
Average Time from Symptom Onset to Diagnosis
Under Investigation
Last Updated
September 05, 2023
References
Aggarwal, R., Ringold, S., Khanna, D., Neogi, T., Johnson, S.R., Miller, A., Brunner, H.I., Ogawa, R., Felson, D., Ogdie, A., Aletaha, D. and Feldman, B.M. (2015), Distinctions Between Diagnostic and Classification Criteria?. Arthritis Care & Research, 67: 891-897. https://doi.org/10.1002/acr.22583
Aringer M, Costenbader K, Daikh D, Brinks R, Mosca M, Ramsey-Goldman R, Smolen JS, Wofsy D, Boumpas DT, Kamen DL, Jayne D, Cervera R, Costedoat-Chalumeau N, Diamond B, Gladman DD, Hahn B, Hiepe F, Jacobsen S, Khanna D, Lerstrøm K, Massarotti E, McCune J, Ruiz-Irastorza G, Sanchez-Guerrero J, Schneider M, Urowitz M, Bertsias G, Hoyer BF, Leuchten N, Tani C, Tedeschi SK, Touma Z, Schmajuk G, Anic B, Assan F, Chan TM, Clarke AE, Crow MK, Czirják L, Doria A, Graninger W, Halda-Kiss B, Hasni S, Izmirly PM, Jung M, Kumánovics G, Mariette X, Padjen I, Pego-Reigosa JM, Romero-Diaz J, Rúa-Figueroa Fernández Í, Seror R, Stummvoll GH, Tanaka Y, Tektonidou MG, Vasconcelos C, Vital EM, Wallace DJ, Yavuz S, Meroni PL, Fritzler MJ, Naden R, Dörner T, Johnson SR. 2019 European League Against Rheumatism/American College of Rheumatology Classification Criteria for Systemic Lupus Erythematosus. Arthritis Rheumatol. 2019 Sep;71(9):1400-1412. doi: 10.1002/art.40930. Epub 2019 Aug 6. PMID: 31385462; PMCID: PMC6827566.
Chang R, Yen-Ting Chen T, Wang SI, Hung YM, Chen HY, Wei CJ. Risk of autoimmune diseases in patients with COVID-19: A retrospective cohort study. EClinicalMedicine. 2023 Feb;56:101783. doi: 10.1016/j.eclinm.2022.101783. Epub 2023 Jan 10. PMID: 36643619; PMCID: PMC9830133.
CTLA4 cytotoxic T-lymphocyte associated protein 4 [ Homo sapiens (human) ]. National Institutes of Health, National Library of Medicine, National Center for Biotechnology Information, Gene Database. (2023). Retrieved February 17, 2023 from https://www.ncbi.nlm.nih.gov/gene/1493
Disease Screening-Statistics Teaching Tools. New York State Department of Health. (1999, April). Retrieved November 15, 2022, from https://www.health.ny.gov/diseases/chronic/discreen.htm
Johar AS, Mastronardi C, Rojas-Villarraga A, Patel HR, Chuah A, Peng K, Higgins A, Milburn P, Palmer S, Silva-Lara MF, Velez JI, Andrews D, Field M, Huttley G, Goodnow C, Anaya JM, Arcos-Burgos M. Novel and rare functional genomic variants in multiple autoimmune syndrome and Sjögren's syndrome. J Transl Med. 2015 Jun 2;13:173. doi: 10.1186/s12967-015-0525-x. PMID: 26031516; PMCID: PMC4450850.
Lupus. Autoimmune Association. (2022, February 11). Retrieved October 28, 2022, from https://autoimmune.org/disease-information/lupus/
Metyas S, Chen C, Aung T, Ballester A, Cheav S. Rheumatologic Manifestations of Post SARS-CoV-2 Infection: A Case Series. Curr Rheumatol Rev. 2022;18(4):346-351. doi: 10.2174/1573397118666220211155716. PMID: 35152867.
PTPN22. National Institutes of Health, National Library of Medicine, National Center for Biotechnology Information. (2022, November 07). Retrieved December 04, 2022, from https://www.ncbi.nlm.nih.gov/gene/26191
Rojas M, Ramírez-Santana C, Acosta-Ampudia Y, Monsalve DM, Rodriguez-Jimenez M, Zapata E, Naranjo-Pulido A, Suárez-Avellaneda A, Ríos-Serna LJ, Prieto C, Zambrano-Romero W, Valero MA, Rodríguez Y, Mantilla RD, Zhu C, Li QZ, Toro-Gutiérrez CE, Tobón GJ, Anaya JM. New insights into the taxonomy of autoimmune diseases based on polyautoimmunity. J Autoimmun. 2022 Jan;126:102780. doi: 10.1016/j.jaut.2021.102780. Epub 2021 Dec 16. PMID: 34923432.
Systemic Lupus Erythematosus. Global Autoimmune Institute. (2022). Retrieved October 28, 2022, from https://www.autoimmuneinstitute.org/systemic-lupus-erythematosus/