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Lupus: A Question of Research

Faced with the word Lupus, it is difficult to know what to think. Is this some strange form of wolf flu that has kept you in constant pain for days? Are the terrible rashes the early signs of sprouting fur? Could the fatigue that has caused you to lose job after job, snap at the kids and miss out on the family outings be because you are becoming some kind of nocturnal animal? With all that has happened and all the time you’ve been seeking answers to these debilitating health issues, why couldn’t someone have come up with an answer earlier? The truth is, Lupus is an autoimmune disease, which are characteristically difficult to identify. This is made even more difficult because Lupus does not present with consistent symptoms in every patient and it is not well researched, meaning that many physicians are not familiar enough with the condition to recognize it when they see it. This introduces a Catch 22 situation in which the disease is not well recognized because of its changeability which reduces the attention of researchers, but with more research, the disease may become better recognized and treated. Little to no public awareness of the illness or its effects results in equally poor grassroots support for research funding and treatment development. Meanwhile, you’ve just spent the last five years bouncing from one doctor to another, trying to maintain your sanity and your savings while missing out on your life. Lupus is an illness that is not very well understood or recognized but requires more significant funding for research and treatment options.

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There are many things about lupus that we don’t yet understand such as what causes this autoimmune dysfunction or why it manifests in specific individuals. Not much is known about the onset of lupus, when it occurs or how it begins its attack on the body. Scientists attempting to discover the causes of lupus have made some educated guesses but have so far remained unable to pinpoint the process. Some research has suggested a genetic link through chromosome 1; other research has focused upon chromosome 6, but no conclusive results regarding either chromosome 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. “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” (NIAMS, 2002). This conclusion is corroborated by the Lupus Foundation of America (“Introduction to Lupus,” 2007) who point out that only about five percent of the children who are born to parents suffering from 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. New research, however, is proving to be a bit more promising. A study published earlier this year offers some proof that the illness is linked to the IRAK1 gene that is carried on the X chromosome, which would explain the tendency of the disease to manifest mostly in women (Jacob et al, 2009).

Lupus is a predominantly female concern. It is reported by NIAMS (2002) that 9 out of every 10 lupus patients are female. This figure is reinforced by the Lupus Foundation of America, yet greater efforts are needed to emphasize the idea that both men and women can be 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. The recent research identifying the IRAK1 gene as the primary cause of the illness does provide some explanation as to why this may be the case (Jacobs et al, 2009). This is because this gene rides on the X chromosome, thus multiplying women’s chance of developing the disease over men. This link hadn’t been discovered earlier because most researchers assumed the illness was somehow connected with hormone levels in the body and focused their attention in this direction. Their assumption of hormonal involvement was based primarily on the impression that lupus manifests sometime after puberty and most cases are diagnosed between the ages of 15 and 44 (the child-bearing years for women) and women are most often affected (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 also suggested a link with estrogen in particular, but this possible link was always complicated in that men and older women, past child-bearing years, can also develop lupus. Further research is required to explain this phenomenon. Is it true that Lupus typically manifests in puberty or is it more likely that it takes this long for a child’s symptoms to be properly diagnosed? If it is not hormone-related, why does it seem to flare during specific stages of a woman’s reproductive cycle?

Another complicated aspect of the disease is that the indications of lupus are not straightforward and consistent from patient to patient. While the fact sheets provided by agencies such as the Lupus Foundation of America indicate that all patients of lupus typically experience the same symptoms just at different phases of the illness, NIAMS indicates that each case of lupus is unique to the individual. This again illustrates the need for more research as the progression and cycle of the disease remains largely a mystery. However, both sources agree on the types of symptoms that may, or may not, manifest. Of these, the Lupus Foundation of America (“Introduction to Lupus,” 2007) provides more informative statistics regarding the prevalence of each type of symptom. According to this source, 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 that occur in more than half of all lupus patients include prolonged or extreme fatigue, skin rashes, anemia and/or kidney involvement. From here, symptoms become less prevalent but are considered linked to the illness including pleurisy, a butterfly-shaped rash across the face, photosensitivity, hair loss, abnormal blood clotting, Reynaud’s phenomenon, seizures and/or mouth or nose ulcers.

The progression of the illness seems to be similarly individual. In general, there are three main types of lupus which are classified as systemic lupus erythematosus, discoid lupus erythematosus and drug-induced lupus. Systemic lupus erythematosus is the most common form of the disease and often affects the entire body system. Discoid lupus erythematosus is typically confined more to the skin rather than the rest of the body’s organs, and drug-induced lupus is considered to be the body’s abnormal reaction to specific types of medications (NIAMS, 2003). Drug-induced lupus is the only form that seems to affect men more than women and has been linked most closely with the medications hydralazine and procainamide, both of which are used to treat heart conditions (NIAMS, 2003). With this kind of close connection being made between medication and illness, it seems a new approach to research has suggested itself. The Lupus Foundation of America lists a fourth, though very rare, form of lupus as neonatal lupus, which shows up as a specific form of rash on the skin, but it is not considered to be a lifelong condition. This rash typically goes away within the first weeks of life (“Introduction to Lupus,” 2007). People with lupus do not experience their symptoms constantly, but intermittently with little or no understanding as to what might prompt a ‘flare.’ Flares can occur on a regular basis or be very sporadic. The most common triggering agents for a lupus flare-up are reported as sun exposure and stress. Some people may require hospitalization on a regular basis for their lupus symptoms while other people with the illness may live relatively normal lives. Sometimes, lupus symptoms can prevent the normal functioning of the body’s organs and can thus be life-threatening. However, most people who will die with lupus do not necessarily die of lupus. In other words, although it is a chronic condition with no known cure, in most cases it is not life-threatening.

Once a patient has been diagnosed with lupus, sometimes a long and frustrating process of misdiagnosis, patients are often required to go through a lengthy trial and error period to determine how best to treat the illness given their specific physical, emotional and risk concerns. Rather than having just a single symptom that must be treated, often several symptoms can flare up or be in remission at varying times. There is currently no known cure for lupus, but it can generally be controlled by using a combination of drugs and making some changes in lifestyle. Drugs that can be used to treat the physical 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 which can be another symptom of the disease or the result of other processes. As discussed in one recent study (Massarotti, 2008), anti-malarial can be substituted to treat many of these symptoms as well as inflammation in the lungs. The most common form of drug treatment for lupus symptoms is corticosteroids. Immunosuppressive may also be used in patients who’ve developed kidney conditions as a result of their lupus (Medline Plus, 2007). Dr. Massarotti (2008) emphasized in her report the importance of involving the patient in determining the best way to treat many of these symptoms. This is both because it has become more widely recognized that these symptoms might differ from one patient to another in presence and intensity and because of the danger or risk some of these treatments might pose to the individual patient. However, it seems clear that a more effective means of treatment is required designed to address the source of the problem rather than its symptoms. This can only be discovered with more research.

Each form of treatment currently available poses its own form of risk. NSAIDS can introduce side effects such as stomach upset, heartburn, diarrhea 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 many known adverse side effects to corticosteroids such as swelling, increased appetite, weight gain, and emotional upsets. Further research has revealed long-term side effects like excessive hair growth, weakened or damaged bones, high blood pressure, arterial damage, higher incidence of infection, increased blood sugar levels and the development of cataracts (Medline Plus, 2007). Immunosuppressives also have side effects including nausea, vomiting, hair loss, bladder control issues, decreased fertility and increased risk for cancer and other forms of infection (Medline Plus, 2007). Lifestyle changes that can help in the treatment of lupus can include things such 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). Further research might reveal reasons why these steps have proven effective or reveal more effective means of treatment and control.

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As new breakthroughs in science make finding a cause of lupus possible, it is important to continue increasing awareness of the illness both for the welfare of the current patients and to gain new research dollars to perhaps prevent future patients from suffering. 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.

References

“Introduction to Lupus.” (2007). Washington D.C.: Lupus Foundation of America. Web.

Jacob, C. O.; Jiankun Z.; Armstrong, D.L.; Mei Yan; et al. (2009). Identification of IRAK1 as a risk gene with critical role in the pathogenesis of systemic lupus erythematosus. Proceedings of the National Academy of Sciences of the United States of America. Vol. 106, N. 15: 6256-6261.

“Lupus.” (2007). XPlain.com. Medline Plus: The Patient Education Institute. Web.

“Lupus Diagnosis.” (2007). About Lupus. New York: SLE Lupus Foundation. Web.

Massarotti, E. M. (2008). Managing musculoskeletal issues in lupus: The patient’s input invited. The Journal of Musculoskeletal Medicine. Vol. 25, N. 10. Web.

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). (2002). The Many Shades of Lupus. Bethesda, MD: NIAMS Informational Clearinghouse, National Institutes of Health. Web.

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