Abstract
There are four types of lupus, systemic lupus erythematous, discoid, drug-induced, and neonatal lupus. Systemic lupus erythematous, also known as SLE or lupus and is sometimes called the “great imitator” due to the fact that it mnemonics so many other diseases. Family practice offices often misdiagnose lupus due to lack of symptoms at the time of visit, patients being poor historians and lab work that is inconclusive at that time. Discoid lupus affects only the skin and causes rashes and lesions mostly of the face, neck and scalp. During drug-induced lupus the person will experience lupus like symptoms. These symptoms usually resolve within six months after the drug is stopped. Individuals with drug- induced lupus may have a positive Antinuclear Antibody test more years after the episode. Neonatal lupus occurs when a child is born to a women with lupus. The infant may have lupus symptoms including rashes, anemia and liver problem which usually resolve within a few months. Some infants born to mothers with lupus may have serious heart defects. For the purpose of this paper the focus will be on systemic lupus erythematous.
Systemic Lupus Erythematous Systemic lupus erythematous is a complex multisystem autoimmune disease in which the body’s immune system misfires and makes autoantibodies that attacks its own tissue. Lupus affects as many as 1.5 million people in America. (U.S. Department of Health and Human Services, 2007) Women are more commonly affected than men with Latinos most often having the most severe symptom followed by African Americans then Caucasian women. . Lupus has a wide range of symptoms that vary from person to person. No two lupus patients are the same.
Causes of Lupus
The exact cause of lupus is unknown. Research suggest a combination of genetic and environmental factors. Researchers believe that lupus is a disease that will lie dormant in the carrier until an environmental stimulus triggers the disease. At that point the individual will slowly start to experience symptoms that will come on over days, months and possibly years before the diagnosis of lupus is made. There is some link to genetics, individuals having a parent with lupus are at an increased risk and if one of a set of twins has lupus the other has a fifty percent chance of developing the disease. Vitamin D deficiency has been researched as a possible trigger for lupus. Research trials have followed individuals of different age, race and gender to evaluate the effects of low vitamin d levels in them. The vitamin D receptor in the cells is involved in the immune response and suggest that vitamin D could exert immunoregulatory effects. (SAGE, 2007) Photosensitivity is all so involved in the lack of vitamin D in people with lupus, so they also have less calcium absorption. There have also been studies on birth control in the female population that have lupus. There is some thought that contraceptives could help individuals cope with lupus better due to the hormone regulation although trials to prove this have not been promising so far. The subjects of such trials only experienced a slight decline in mild flares and no decline in severe symptoms. Chromosome X may have a link to lupus and be the reason women are more often afflicted. Men that have lupus may have XXY karyotypes instead of the XY karyotypes (KL Moser, 2009) which would explain why females are affected 12:1 over males.
Signs and Symptoms. The signs and symptoms of lupus may come on quickly or develop over a period of time and may be temporary or permanent. Symptoms may also be mild or severe. Individuals with lupus have “flares” and will have a varying degree of symptoms which a may not be the same each time which is why diagnosing is so difficult. The most common signs and symptoms include a butterfly shaped rash across the checks and forehead, referred to as malar, fatigue and weakness which is at time extreme, muscle and joint pain and swelling, headaches, confusion and memory loss. Some individuals experience chest pain, shortness of breath and Raynaud’s syndrome in which the fingers and/or toes turn white or purple and the person has an intolerance to the cold. Kidney damage and kidney failure are the leading cause of death in individuals with lupus. Kidney failure often manifest with generalized itching, chest pains, nausea and vomiting and edema of the lower extremities. Lupus can cause vasculitis in some individuals and may lead to bleeding or clotting disorders and lupus patients are often anemic. Since lupus can affect the brain and central nervous symptoms not only are headaches a problem but behavior changes and hallucinations may occur. The possibility of having stroke or developing seizure activity can be increased also. Lupus can cause pericarditis and with the increase risk of having vascular issues makes the risk of cardiovascular disease and cardiovascular accidents much greater. These individuals are also more susceptible to pleurisy and pneumonia due to the altered immune system. Some other issues that people with lupus face is infection and cancer due to the fact that the disease and treatment further weaken the immune system, avascular necrosis which causes small breaks in a bone that ultimately cause the bone to collapse, this is seen most often in the hip bone. Women are often advised to have their disease under control for a minimum of six months before trying to conceive because of the pregnancy complications that can including miscarriage and preeclampsia. No two individuals will have the same signs and symptoms. Flares are often mild and the person will recover with rest and medication, occasionally they will have severe flares that may cause hospitalization. Lupus is a disease that has active periods and periods of remission. When an individual is in remission the term quiescence is used and means quiet period.
Diagnosis. Due to the varying range from symptoms and the fact that when some individuals are not having a flares they may have no symptoms what so ever it is extremely difficult to diagnose lupus. Paired with the fact that patients tend to be poor historians and some family practices have not managed lupus diagnosing lupus can be a long and difficult task. Symptoms are the first diagnostic tool used then blood work is used to try and make a definitive diagnosis of lupus. Even with blood work and an individual’s symptoms reviewed lupus is often misdiagnosed. Antinuclear antibodies (ANA) test is usually one of the first blood test that is performed. The ANA test is used to see if there are proteins that are attacking normal tissue. Only eleven to thirteen percent of people that have a positive ANA test will have lupus and up to fifteen percent of healthy people can have a positive ANA test result (Joan Marie Von Feldt, 2012). So even though the ANA test is one of the first blood test preformed it is not conclusive for lupus. The erythrocyte sedimentation rate (ESR) is tested to detect inflammation that is associated with autoimmune disease along with infections and cancers. If a patient has been diagnosed with lupus the ESR is monitored to see if the treatment is working to help alleviate the symptoms of lupus. Physicians will often order a C-reactive protein test if the patient is having acute symptoms physicians also use this test to monitor treatment progress. Antiphospholipid antibodies test (APLs) is another test that may help with the diagnosis of lupus and detects antibodies that are directed against phospholipids. Anti-Sm is used to test for antibodies directed against Sm which is a specific protein found in a cell nucleus. Other blood test physicians will typically run are a complete blood count (CBC), complete metabolic panel (CMP), Anti-dsDNA which is an antibody that attacks double stranded DNA, Anti-Ro (SSA) and Anti-La (SSB) which are specific against ribonucleic acid (RNA), and a complement panel. A urinalysis is also performed to screen for protein, blood cells and cellular cast which can show signs of kidney disease, protein/creatinine ratio to monitor kidney function and measurement of glomerular filtration rate and proteinuria to test how well the kidneys are filtering the blood. A questionnaire is also given to patients to get a better idea of the symptoms the individual is having and how often they are having them. Physicians also take family history into account and not just lupus in the family but any other autoimmune diseases such as Hashimoto’s disease.
Treatment. At this time there is no cure for lupus and treatment can be difficult with the changing symptoms and severity of these symptoms. The focus on lupus treatment is to treat the symptoms to control the disease. These symptoms are managed through different therapies and lifestyle changes. These include being active and exercising regularly, eating a healthy diet, keeping all appointments and referrals with physicians and drug therapy. Individuals that have no life threatening symptoms such as joint pain, fatigue and rash are started on conservative treatment such as nonsteroidal anti-inflammatory drugs (NSAIDS). These medication such as, Motrin and naproxen, can decrease the pain and swelling associated with lupus but can cause other problems such as kidney damage or gastrointestinal bleeding. Antimalarial drugs including Plaquenil are also used for these patients and may help prevent the chance of abnormal clotting in lupus patients. Patients that have life-threatening issues that affect the kidneys, lungs, heart and central nervous system receive more aggressive treatments including high-dose steroids and immune suppressants. Unfortunately these medications all have unpleasant side effects of their own and occasionally for people with mild flares the drug therapy may be worse than the flare. Benlysta is a biologic and is the first new drug to be approved for lupus by the food and drug administration in the last fifty years. Biological therapy, also called biotherapy or immunotherapy, use parts of the body’s own immune system to protect against disease or to help alter diseases. According to the Consumer Health Information Corporation Clerkship, “biological drugs have almost “pinpoint” accuracy and can search out the diseased organs or cells that need to be treated. These drugs of the future are being developed through advanced technology called “genetic modification”. (Timothy Nelson, 2008). Trials for biological therapy have been promising. A short trial done in 2013 showed that biotherapy decrease disease activity, resulting in less need for corticosteroids and a decrease in the amount and severity of flares that the participants experienced. (Dema, 2014). Often a physician will have to prescribe a combination of therapies for the patient to be able to cope with the symptoms of lupus.
Even though research has been ongoing for many years the lack of any promising leads have discourage many and caused the food and drug administration to be very selective about any new treatments that are approved. Research is being done on every aspect of lupus and the breakthrough of the biotherapy that was previously used for arthritis has opened new doors for clinical trials. New treatments are being tested using biomarkers and specific cell targeting. Researchers are hoping to find not only a cure but biomarkers in individuals that could be noticed before the disease is even triggered by an outside stimulus. (U.S. Department of Health and Human Services, 2007) There is also research to find what the genetic links are for lupus. Researchers know that if an individual has one parent with lupus that they have an increased risk of developing the disease but don’t know what they are looking for specifically. Researcher are trying to locate the exact gene or genes responsible and find a way to isolate and treat the defect. With the newly approve biotherapy researcher and individuals living with the disease seemed to have found a renewed hope in finding a cure for lupus.
References
Danchenko, S. a. (2006). Epidemiology of systemic lupus erythematosus: a comparison of worldwide disease burden. Retrieved from Lupus Around the World: http://www.lupus-journal.com
Dema, B. (2014, May 22). Advances in Mechanisms of Systemic Lupus Erythematosus. Retrieved from http://www.discoverymedicine.com
Ellen Ginzler, M. a. (2013, February). Systemic Lupus Erythematosus. Retrieved from American Colleg of Rheumatology: http://www.rheumayology.org
Joan Marie Von Feldt, M. (2012, February). Antinuclear Antibodies (ANA). Retrieved from American College of Rheumatology: http://rheumatology.org
KL Moser, J. K. (2009, April 10). Recent insights into the gentic basis of systemic lupus. Retrieved from Genes and Immunity: http://www.nature.com/gene
Lupus Foundation of Minnesota. (2012). Treatments and Medications. Retrieved from Lupus : http://www.lupusmn.org
SAGE. (2007, December 18). Review: Vitamin D, immunity and lupus. Retrieved from LUPUS: http://www.sagepublications.com
The New England Journal of Medicine. (2005, December 15). Combined oral Contraceptive in Women with Systemic Lupus Erythematosus. Retrieved from The New England Journal of Medicine : http://NEJM.org
Timothy Nelson, P. C. (2008). Biological Drugs: Drugs of The Future. Retrieved from Consumer Health Information Corporation : http://www.consumer-health.com
U.S. Department of Health and Human Services. (2007, August). The Future Directions of Lupus Research. Retrieved from National Institute of Arthritis and Musculoskeletal and Skin Diseaes: http://www.niams.nih.gov