Lupus Autoimmune Disease - Case Study Example

Lupus: A Question of Research Lupus is an autoimmune disease that causes a great deal of pain to its sufferers, sometimes making it impossible for them to carry on a normal lifestyle such as hold a job, care for a child or participate in family activities. Despite this significantly debilitating illness, the condition is often misdiagnosed. There are numerous reasons for this, including the flexibility of this illness, demonstrating inconsistent signs and symptoms among its patients, and the lack of understanding that could be gained through further research. Because of the lack of recognition, though, lupus is often not among the top illnesses to receive research funding during budget time. Little to no public awareness of the issue results in equally poor grassroots support for research and treatment development. Lupus is an illness that is little understood by the general public and thus receives insufficient funding for research and treatment options. This paper attempts to explain why lupus is such a complicated illness and why more funding for research is necessary. While some facts are known about Lupus, there remain several things we don’t yet understand regarding what causes this autoimmune disease or why it affects only a particular portion of the population, which highlights the need for further research. The initial facts regarding the onset of lupus are sketchy at best. Scientists attempting to discover the causes of lupus have made some educated guesses, but remain unable to pinpoint the process. Recent research has indicated that there may be a genetic link through chromosome 1 while other research has focused upon chromosome 6, but no conclusive results have been found (Introduction to Lupus”, 2007). According to the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) (2002), the causes for lupus remain unknown and there is therefore no current means of curing the illness. According to the National Institute of Arthritis and Musculoskeletal and Skin Diseases (2002), “Lupus sometimes seems to run in families, which suggests the disease may be hereditary. Having the genes isn’t the whole story, though. The environment, sunlight, stress, and certain medications may trigger symptoms in some people. Other people who have similar genetic backgrounds may not get signs or symptoms of the disease.” This is corroborated by the Lupus Foundation of America (“Introduction to Lupus”, 2007) in which it is reported that only about five percent of children born to parents with lupus will themselves suffer the disease. In addition, only 10 percent of lupus patients are closely linked (as in parent or sibling) with another lupus patient. While some men have been diagnosed with lupus, the condition affects mostly women, which has significant ramifications upon treatment options and points to some possible causes of the illness that will require additional research. It is reported by NIAMS (2002) that nine out of every 10 lupus patients are female. This is also supported by the Lupus Foundation of America, other greater efforts are made to emphasize the fact that men and women are susceptible to lupus. “Lupus can occur at any age, and in either sex, although it occurs 10-15 times more frequently among adult females than among adult males after puberty or after the emergence into sexual maturity” (“Introduction to Lupus”, 2007). In addition to affecting women more than men, lupus has been shown to affect African American, Asian, Hispanic/Latino and American Indian women more than Caucasian women, but, as in trying to explain why women are affected more than men, there are no solid answers as to why this is so. Because lupus often manifests sometime after puberty and “most cases are diagnosed between the ages of 15 and 44 (the child-bearing years for women), it is thought that perhaps lupus is connected in some way with hormone levels in the body” (NIAMS, 2002). The Lupus Foundation of America (“Introduction to Lupus”, 2007) reports that the symptoms of lupus will frequently increase just before menstrual periods and during pregnancy, which suggests a link with estrogen in particular, but this possible link is complicated in that men and older women, past child-bearing years, can also develop lupus. Another complicated aspect of the disease is that the indications of lupus are not always as straightforward as a case of measles, creating difficulties in formulating proper research objectives. Signs and symptoms of lupus are often different from one patient to another in that one patient may experience one symptom to a great degree while another patient may only manifest that symptom slightly. While the Lupus Foundation of America indicates that all patients of lupus experience the same symptoms, NIAMS indicates that each case of lupus is unique to the individual, suggesting a schism in the available research that must be resolved. However, both sources agree on the types of symptoms that may, or may not, manifest. The Lupus Foundation of America (“Introduction to Lupus”, 2007) provides more informative statistics regarding the prevalence of each type of symptom. According to their information, “more than 90 percent of all lupus patients experience achy joints, arthritis, swollen joints and fevers of more than 100 degrees F.” Other common symptoms (occurring in more than half of all cases) include “prolonged or extreme fatigue, skin rashes, anemia and/or kidney involvement” (“Introduction to Lupus”, 2007). Other symptoms, in decreasing order of prevalence, include “pleurisy, a butterfly-shaped rash across the face, photosensitivity, hair loss, abnormal blood clotting, Raynaud’s phenomenon, seizures and/or mouth or nose ulcers” (“Introduction to Lupus”, 2007). According to NIAMS (2002), women of color will frequently experience these symptoms to a greater degree than their Caucasian counterparts, again with no clear explanation available for why this should be so. The progression of the illness seems to be similarly individual, further complicating the results and application of research conducted and illustrating why greater knowledge is necessary. In general, there are three main types of lupus. These include systemic lupus erythematosus, which is the most common type and can affect the entire body. Less commonly occurring is discoid lupus erythematosus, which primarily affects the skin. Finally, there is drug-induced lupus, which, as its name implies, seems to spring from reactions to particular medicines (NIAMS, 2003). This final form of lupus has been shown to affect more men than women and has thus been linked to the use of the specific heart medications hydralazine and procainamide (NIAMS, 2003). The Lupus Foundation of America lists a fourth, though very rare, form of lupus as neonatal lupus, which manifests as a particular type of rash upon the skin, but it is not determined to be a lifelong condition and typically goes away within the first weeks of life (“Introduction to Lupus”, 2007). This disease is also not consistent in manifesting symptoms. When a person with lupus is experiencing their symptoms, this episode is referred to as a flare. Flares can occur on a regular basis or be very sporadic with the common triggering agents reported as sun exposure and stress. In addition, some people may be hospitalized on a regular basis for their lupus symptoms while others may live relatively normal lives with little to no interruption by their disease. When lupus symptoms prevent the normal functioning of the body’s organs, it can be life-threatening. Despite this, most people who will die with lupus do not necessarily die of lupus. Current treatment options for lupus represent the best knowledge that research has yielded thus far; therefore, the effectiveness of these treatment plans can be used as a means of determining the effectiveness of the research in providing a strong understanding of the condition. Despite recognition of the condition as an autoimmune disease, however, there remain several problems in gaining a proper diagnosis. The character of lupus is often individual enough to present conflicting medical reports, making accurate diagnosis difficult. As has been mentioned, flares can be present one week and gone the next, making it difficult for medical professionals to observe the symptoms first-hand. Medline Plus (2007) indicates that diagnosis of lupus can take a great deal of time as there are currently no available tests that will conclusively indicate the condition although the presence of particular antibodies within the bloodstream have been found to be common among lupus patients. However, lupus is frequently diagnosed only after tests for numerous other possible known illnesses have proven false. “Many physicians also use the American College of Rheumatology’s ‘Eleven Criteria of Lupus’ to aid in the diagnosis of lupus. The criteria include symptoms as well as specific laboratory findings that provide information about the functioning of a person’s immune system. In most cases, the diagnosis of lupus is made when four or more of the criteria have occurred at some time” (“Lupus Diagnosis”, 2007). These criteria include the butterfly rash across the face, raised red patches, photosensitivity, mouth or nose ulcers, nonerosive arthritis, inflammation of the tissue around the heart or lungs, kidney or liver disorder, blood disorder, immunologic disorder or the presence of antinuclear antibodies. In addition to diagnosing the illness based upon present symptoms, if a physician is not well-acquainted with the illness, lupus can often be mistaken for a variety of other ailments indicating that better testing procedures must be developed and information about the illness must be disseminated better. The diverse group of symptoms that can appear with lupus can frequently cause doctors to misdiagnose the illness, due largely in part to the way the symptoms occur seemingly independent of other symptoms. A person going to see the doctor about a rash on their skin may be treated for any number of skin-related problems such as eczema, contact dermatitis (such as that caused by poison ivy) or rosacea. Blood tests can return false positives for syphilis, thyroid disease, several liver conditions and other autoimmune diseases. “Joint conditions can be confused with arthritis if the connection with other symptoms is not noticed” (“Lupus Diagnosis”, 2007). According to one lupus patient, Margie Cossman (“Lupus Diagnosis”, 2007), she “was misdiagnosed several times with everything from ‘mono’ to strep throat. My pediatrician finally uncovered the lupus and started me on steroids right away.” Of the six women cited by the SLE Lupus Foundation (“Lupus Diagnosis”, 2007) who addressed the topic of diagnosis, only two were correctly diagnosed from the beginning because both were fortunate enough to have initially contacted physicians who were experts in the field. Once diagnosis has been reached, patients are also often required to go through a lengthy trial and error period to determine how best to treat their illness. With lupus, there isn’t a single symptom that must be treated, but often several symptoms that can flare up or be in remission at varying times. As already discussed, there is no known cure for lupus, but it is generally controllable through a combination of drugs and changes in lifestyle. Drugs that can be used to treat symptoms of joint pain, swelling and fever include the many types of NSAIDS (non-steroidal anti-inflammatory drugs), however these can be dangerous to patients experiencing abnormal blood-clotting. Anti-malarials can be used for many of these symptoms as well as inflammation in the lungs, but the most common form of drug treatment for lupus is corticosteroids. Immunosuppressives may also be used in patients who’ve developed kidney conditions as a result of their lupus (Medline Plus, 2007). Lifestyle changes can include such things as avoiding a great deal of sunlight or using sunblocks and protective clothing and scheduling enough time in the day to get the rest that is required. Reducing daily stress levels has also been shown to reduce the frequency and severity of flare ups although the exact physical reasons for this remain unknown (“Lupus Diagnosis”, 2007). Despite the controllability of the illness, many of the treatment options used to control adverse symptoms can sometimes produce adverse side effects as well, many of which are only just now being discovered through trial and error rather than through focused research. For example, as gentle as the NSAIDS are reputed to be, they can still introduce side effects such as upset stomach, acid reflux, loose stool and fluid retention in patients who may already be experiencing some damage to the kidneys, forcing them to work harder, and increasing stress levels in the overall discomfort of the rest of the body. Antimalarials have been shown to cause damage to the eye on rare occasions and there are numerous known side effects to corticosteroids such as swelling in the joints and tissues, already an issue with this illness, increased appetite and subsequent weight gain, and emotional disorders or fluctuations. Further research has revealed long-term side effects. Some, such as excessive hair growth may not create too many difficulties; however, weakened or damaged bones, high blood pressure and arterial damage are much more concerning as is the higher incidence of infection, increased blood sugar levels and the development of cataracts as a result of long term use of these medications (Medline Plus, 2007). Immunosuppressives have similarly frightening side effects including “nausea, vomiting, hair loss, bladder control issues, decreased fertility and increased risk for cancer and other infection” (Medline Plus, 2007). While the lifestyle changes required may seem to be in the order of positive changes, getting enough exercise, staying out of the sun and reducing stress levels, these can also act as barriers to living a normal life. For example, Maggie Gonzales (cited in “Lupus Diagnosis”, 2007) says she cannot watch her nine-year-old son participate in sports because she cannot stay out in the sun. Jill Kuirsky, another lupus patient (cited in “Lupus Diagnosis”, 2007), said she was happy to finally learn what was wrong with her, “but I also got sad at certain times of the year, like the summer when all the girls would be going outside and I had to stay in because the sunlight would cause a disease flare. I couldn’t risk being put back on steroids. I hated what they did to my body—mood swings, bloating, weight gain. Those are tough at age 17. I also needed a lot of rest, but I was a kid and wanted to go out and do things.” Medications that are used to treat lupus may be effective in controlling the symptoms, but not enough is known about the possible current and future side effects such drugs might introduce or how to prevent them. Corticosteriods have long been used as a major treatment option for lupus patients, but it is also associated with a significant degree of bone loss as one of its main side effects, which eventually leads to osteoporosis. “There are over a million fractures that are probably related to osteoporosis in the U.S. and the cost of that is over 10 billion dollars a year” (researcher Dr. Rosalind Ramsey-Goldman of the Northwestern University Medical School cited in Ciampa, 1998). Studies that have been conducted trying to find new means of halting or at least slowing the bone loss associated with corticosteroids in the treatment of lupus, such as increasing the levels of exercise and calcium intake, can have wide-reaching effect not just for lupus patients, but also for osteoporosis patients and other patients who must take quantities of corticosteroids to treat illnesses such as asthma and rheumatoid arthritis. While the problems of corticosteroids have not yet been resolved, another drug that has been used as a control for lupus symptoms has recently been found to contribute significantly to male sterility. Cytoxan, an immunosuppressive drug, is commonly used for lupus patients who have experienced kidney or liver problems as a result of their illness. A study was conducted in which researchers discovered men with lupus had lower sperm counts and sperm motility, lower sperm volume and a lower percentage of normal sperm than healthy men. “Their analysis showed men with lupus who had more treatments of intravenous cyclophosphamide (also known as Cytoxan) were much more likely to have permanent sperm damage tied to infertility than men who had received the treatment less often” (Warner, 2007). In general, the study determined that after only five years of treatment with this particular medication, men have suffered significant sperm damage. At the moment, the only remedy for this issue remains freezing and storing sperm sometime either before or during the early years of treatment. Discussion so far has illustrated how every aspect of lupus remains more mystery and guesswork rather than knowledge and appropriate treatment. However, in medical matters, lack of knowledge does not necessarily indicate a lack of research. In determining whether there is adequate funding for research into lupus, it is necessary to consider the current status of research into more than simply lupus alone. Research into issues that could affect lupus patients would include research into lupus, research into the medications that are used and research into other autoimmune diseases. Lupus research specifically seeks to answer the questions regarding why lupus affects the particular portion of the population it does and the processes by which it develops. According to a report by the Alliance for Lupus Research, there has not been much progress made in the field of lupus research in the past 30 years, a lamentable fact that initiated the group’s formation as a means of finding additional means of supporting and funding research into effective treatments and perhaps even cures for the symptoms of lupus within the near future (“Innovation”, 2006). “Historically underfunded due to lack of national attention, the disease needed a focused champion – one that would speak on behalf of the hundreds of thousands suffering from lupus, one that would recruit the best and brightest scientific talent to this cause, one that would focus exclusively on developing near-term therapies for people with lupus” (“Innovation”, 2006). In illustrating the need for such an organization, this foundation highlights the lack of adequate research into the disease. However, lupus research is not limited to just what is produced in the name of lupus research. Research into side effects of medication, such as how to stop bone loss in the use of corticosteroids, could also have immediate impact upon lupus patients even when lupus isn’t particularly targeted in the research. An example of the inadequate nature of research into the potential harmful effects of medications used to treat lupus can be found in the discoveries regarding Cytoxan and male infertility. According to Warner (2007), “The disease is nine times more common in women than in men, and researchers say this is the first study to look at how the disease and its treatments affect male reproductive health.” This is concerning because the illness has been recognized for at least 30 years, as indicated by the Alliance for Lupus Research, yet this dangerous by-product of treatment has only just been discovered. Finally, as an autoimmune disease, any research that provides greater information into this classification of health conditions can help further lupus research as well. Current research being conducted by the National Institutes of Health and the National Institute of Arthritis and Musculoskeletal and Skin Diseases focuses on various conditions of the joints, muscles, bones, connective tissue and skin, all of which have direct correlations with lupus as well as many other ailments (NIAMS, 2002). The research that is directly related to lupus includes studies that focus on auto-immune diseases in general. There are several studies that have looked at genetic predispositions, hormones, and drugs that suppress symptoms (NIAMS, 2002). Having perceived a lack of adequate funding into the specific issues facing lupus patients, those affected by the disease and professionals have joined together to try to create new funding alternatives (“Innovations”, 2006). One means of bringing more funding to lupus research is through partnerships between businesses and researchers. The Alliance for Lupus Research works by bringing together corporate angel investors and researchers under an umbrella group that provides the funds for all operational costs of various studies while keeping the rush of corporate politics out of the research field (“Innovations”, 2006). The benefit of this arrangement is that more dollars can be raised in shorter periods of time for a great number of research studies. “Our founders created a funding ad research model that bridges the gap between the rapid, results-oriented focus of private industry and the steady, methodical approach of basic scientific research” (“Innovations”, 2006). One of the major disadvantages of this arrangement is the loss of credibility as business gains greater influence over medical science. Another means of gaining greater funding for lupus research is in a greater level of cross-research information sharing in which research for one condition can contribute to understanding of another condition. Lupus research into the effects of steroids on female patients and how to negate the amount of bone loss can be helpful in bettering treatment for female cancer patients, for instance, who may need to take the same or similar drugs. Research into other related diseases, such as arthritis, may bring about more effective treatments for the immobilizing joint pain frequently experienced by lupus patients. With so many unanswered questions regarding lupus and many other autoimmune diseases that affect the lives of thousands of individuals incurring tremendous expense in gaining appropriate treatment in an age of ever-rising medical costs, it seems clear that more research is required to find either a cure or a less intensive means of treating this illness to provide as many individuals as possible a full and active life. Works Cited Ciampa, Linda. “Researchers Look to Stop Bone Loss in Lupus Patients.” CNN. 13. 13. Oct. 1998. 14. Aug. 2007 “Innovation, Discovery, Risk-Taking.” Year-end report 2006. Alliance for Lupus Research.2006. 10. Aug. 2007 “Introduction to Lupus.” Washington D.C.: Lupus Foundation of America, 2007. 6. Aug. 2007 “Lupus.” XPlain.com. Medline Plus: The Patient Education Institute. 6. Aug. 2007 “Lupus Diagnosis.” About Lupus. New York: SLE Lupus Foundation, 2007. 14. Aug. 2007 < http://www.lupusny.org/diagnosis.php> National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). The Many Shades of Lupus. Bethesda, MD: NIAMS Informational Clearinghouse, National Institutes of Health, February 2002. 14. Aug. 2007 Warner, Jennifer. “Lupus Drug May Cause Male Infertility.” Web MD. June 28, 2007. 10. Aug. 2007 Read More