Lupus erythematosus is a collection of autoimmune diseases in which the human immune system becomes hyperactive and attacks healthy tissues. Symptoms of these diseases can affect many different body systems, including joints, skin, kidneys, blood cells, heart, and lungs. The most common and most severe form is systemic lupus erythematosus.
Signs and symptoms
Symptoms vary from person to person, and may come and go. Almost everyone with lupus has joint pain and swelling. Some develop arthritis. Frequently affected joints are the fingers, hands, wrists, and knees. Other common symptoms include:
- chest pain during respiration
- joint pain
- oral ulcer
- weight loss
- fever with no other cause
- general discomfort, uneasiness, or ill feeling (malaise)
- hair loss
- sensitivity to sunlight
- a "butterfly" facial rash, seen in about half people with SLE
- swollen lymph nodes
Photosensitivity is a known symptom of lupus, but its relationship to and influence on other aspects of the disease remain to be defined. Causes of photosensitivity may include:
It is typically believed that lupus is influenced by multiple genes. Lupus is usually influenced by gene polymorphisms, 30 of which have now been linked with the disorder. Some of these polymorphisms have been linked very tentatively however, as the role that they play or the degree to which they influence the disease is unknown. Other genes that are commonly thought to be associated with lupus are those in the human leukocyte antigen (HLA) family. There have been several cases where a single gene influence appears to be present, but this is rare. When a single gene deficiency does cause lupus, it is usually attributed to the complement protein genes C1, C2, or C4. The influence of sex chromosomes and environmental factors are also noteworthy. Usually, these factors contribute to lupus by influencing the immune system. Several studies also indicate a potential association of lupus with mutations in DNA repair genes
Lupus can develop in any age, but most commonly in ages 15 to 44, with varying results. Typically, the manifestation of the disease tends to be more acute in those affected who are of younger age. Women are more likely to get it than men. Patients with juvenile-onset lupus are more vulnerable to mucocutaneous manifestations of the disease (alopecia, skin rash, and ulceration of the mucus membranes) than any other age group. However, patients with late-onset lupus have a much higher mortality rate. Nearly 50% of those with late-onset lupus die of their affliction. Women who are of childbearing age are also particularly at risk.
Differences in ethnicity
Substantial data have been found to indicate that certain ethnic populations could be more at risk for lupus erythematosus, and have a better or worse prognosis. Asian, African, and Native Americans are more likely to get lupus than Caucasians. Caucasians seem to generally have a more mild manifestation of the disease. Their survival rates after five years were typically around 94–96%, while patients of African and some Asian ethnicities had survival rates closer to 79–92%. The only documented ethnicity that had a higher survival rate than Caucasians were Koreans, who had survival rates nearer to 98%. Among Caucasians, the most common causes of death were complications involving the cardiovascular system, the respiratory system and malignancies. Atherosclerotic cardiovascular disease is more prevalent in African Americans with lupus than in Caucasians with lupus.
Testing may include:
Of these, systemic lupus erythematosus (also known as SLE) is the most common and serious form.
- acute cutaneous lupus erythematosus
- subacute cutaneous lupus erythematosus
- discoid lupus erythematosus (chronic cutaneous
- childhood discoid lupus erythematosus
- generalized discoid lupus erythematosus
- localized discoid lupus erythematosus
- chilblain lupus erythematosus (Hutchinson)
- lupus erythematosus-lichen planus overlap syndrome
- lupus erythematosus panniculitis (lupus erythematosus profundus)
- tumid lupus erythematosus
- verrucous lupus erythematosus (hypertrophic lupus erythematosus)
- cutaneous lupus mucinosis
- complement deficiency syndromes
- drug-induced lupus erythematosus
- neonatal lupus erythematosus
- systemic lupus erythematosus
Treatment consists primarily of immunosuppressive drugs (e.g., hydroxychloroquine and corticosteroids). A second-line drug is methotrexate in its low-dose schedule. In 2011, the U.S. Food and Drug Administration (FDA) approved the first new drug for lupus in more than 50 years to be used in the US, belimumab. In addition to medical therapy, cognitive behavioural therapy has also been demonstrated to be effective in reducing stress, anxiety, and depression due to the psychological and social impacts that lupus may have.
Recent studies show promising therapeutic efficacy of N-acetylcysteine and sirolimus, which block a pathogenic pathway characterized by the activation of the mechanistic target of rapamycin (mTOR).
- an estimated 5 million people worldwide have some form of lupus disease.
- 70% of lupus cases diagnosed are systemic lupus erythematosus.
- 20% of people with lupus will have a parent or sibling who already has lupus or may develop lupus.
- about 5% of the children born to individuals with lupus will develop the illness.
- Females in the UK are seven times more likely to have the disease than males.
- The estimated number of females in the UK with SLE is 21,700, and the number of males is 3000—a total of 24,700, or 0.041% of the population.
- SLE is more common amongst certain ethnic groups than others, especially those of African origin.
In popular culture
- In the early seasons of the TV show House, members of the eponymous character's medical team often suggested lupus as a diagnosis for their patients, only to be rebuked. The rarity of legitimate lupus diagnoses in the show eventually became a running gag.
- Fitzpatrick, Thomas B.; Klauss Wolff; Wolff, Klaus Dieter; Johnson, Richard R.; Suurmond, Dick; Richard Suurmond (2005). Fitzpatrick's color atlas and synopsis of clinical dermatology. New York: McGraw-Hill Medical Pub. Division. ISBN 978-0-07-144019-6.
- "Systemic Lupus Erythematosus (Lupus, SLE)". PubMed Health. National Library of Medicine.
- Scheinfeld, Noah; Deleo, Vincent A (2004). "Photosensitivity in lupus erythematosus". Photodermatology, Photoimmunology and Photomedicine. 20 (5): 272–9. doi:10.1111/j.1600-0781.2004.00094.x. PMID 15379880.
- Kiriakidou, Marianthi; Cotton, D; Taichman, D; Williams, S (2013). "Systemic Lupus Erythematosus". Annals of Internal Medicine. 159 (7): ITC4–1. CiteSeerX 10.1.1.1008.5428. doi:10.7326/0003-4819-159-7-201310010-01004. PMID 24081299.
- Meas R, Burak MJ, Sweasy JB (August 2017). "DNA repair and systemic lupus erythematosus". DNA Repair (Amst.). 56: 174–182. doi:10.1016/j.dnarep.2017.06.020. PMC 5543809. PMID 28623091.
- Feng, X.; Zou, Y.; Pan, W.; Wang, X.; Wu, M.; Zhang, M.; Tao, J.; Zhang, Y.; Tan, K.; Li, J.; Chen, Z.; Ding, X.; Qian, X.; Da, Z.; Wang, M.; Sun, L. (2013). "Associations of clinical features and prognosis with age at disease onset in patients with systemic lupus erythematosus". Lupus. 23 (3): 327–34. doi:10.1177/0961203313513508. PMID 24297642.
- Voss, A.; Laustrup, H.; Hjelmborg, J.; Junker, P. (2013). "Survival in systemic lupus erythematosus, 1995–2010. A prospective study in a Danish community". Lupus. 22 (11): 1185–91. doi:10.1177/0961203313498796. PMID 23873432.
- "Lupus Facts, Symptoms, Rash, Effects, Complications, and More." WebMD, n.d. Web. 6 October 2014. http://www.webmd.com/lupus/arthritis-lupus.
- Alenghat, Francis J (2016). "The Prevalence of Atherosclerosis in Those with Inflammatory Connective Tissue Disease by Race, Age, and Traditional Risk Factors". Scientific Reports. 6: 20303. Bibcode:2016NatSR...620303A. doi:10.1038/srep20303. PMC 4740809. PMID 26842423.
- "Systemic lupus erythematosus: MedlinePlus Medical Encyclopedia". Medline Plus. US National Library of Medicine.
- James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Disease of the Skin: Clinical Dermatology. (10th ed.). Saunders. Chapter 8. ISBN 0-7216-2921-0.
- Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- Böhm I (2004). "Increased peripheral blood B-cells expressing the CD5 molecules in association tp autoantibodies in patients with lupus erythematosus and evidence to selectively down-modulate them". Biomed Pharmacother. 58 (5): 338–43. doi:10.1016/j.biopha.2004.04.010. PMID 15194170.
- "Lupus - Arthritis". CDC. 2018-10-18.
- Greco, Carol M; Rudy, Thomas E; Manzi, Susan (2004). "Effects of a stress-reduction program on psychological function, pain, and physical function of systemic lupus erythematosus patients: A randomized controlled trial". Arthritis Care & Research. 51 (4): 625–34. doi:10.1002/art.20533. PMID 15334437.
- Lai, Zhi-Wei; Hanczko, Robert; Bonilla, Eduardo; Caza, Tiffany N; Clair, Brandon; Bartos, Adam; Miklossy, Gabriella; Jimah, John; Doherty, Edward; Tily, Hajra; Francis, Lisa; Garcia, Ricardo; Dawood, Maha; Yu, Jianghong; Ramos, Irene; Coman, Ioana; Faraone, Stephen V; Phillips, Paul E; Perl, Andras (2012). "N-acetylcysteine reduces disease activity by blocking mammalian target of rapamycin in T cells from systemic lupus erythematosus patients: A randomized, double-blind, placebo-controlled trial". Arthritis & Rheumatism. 64 (9): 2937–46. doi:10.1002/art.34502. PMC 3411859. PMID 22549432.
- Lai, Zhi-Wei; Kelly, Ryan; Winans, Thomas; Marchena, Ivan; Shadakshari, Ashwini; Yu, Julie; Dawood, Maha; Garcia, Ricardo; Tily, Hajra; Francis, Lisa; Faraone, Stephen V; Phillips, Paul E; Perl, Andras (2018). "Sirolimus in patients with clinically active systemic lupus erythematosus resistant to, or intolerant of, conventional medications: A single-arm, open-label, phase 1/2 trial". The Lancet. 391 (10126): 1186–1196. doi:10.1016/S0140-6736(18)30485-9. PMC 5891154. PMID 29551338.
- Dospinescu, Paula; Shamliyan, Tatyana A. (2017-07-01). "Additional Improvements in Clinical Response From Adjuvant Biologic Response Modifiers in Adults With Moderate to Severe Systemic Lupus Erythematosus Despite Immunosuppressive Agents: A Systematic Review and Meta-analysis". Clinical Therapeutics. 39 (7): 1479–1506.e45. doi:10.1016/j.clinthera.2017.05.359. ISSN 0149-2918. PMID 28673504.
- "Media Relations". Archived from the original on June 29, 2013. Retrieved August 24, 2013.
- "Lupus". Arthritis Research UK. Archived from the original on February 1, 2014. Retrieved August 24, 2013.