Lopez 1 The benefits of genetic research on Systemic Lupus Erythematosus In most cases despite the fear that genetic information will be misused in ways that harm individuals the benefits of genetic research outweigh the risks This is especially true in the case of Systemic Lupus Erythematosus SLE a complicated autoimmune disease that affects 05 of the western population 1 Presently prevention of the disease is non existent meanwhile diagnosis and treatment often lack precision and efficiency One of the major challenges is that SLE is caused by a number of factors that affect each individual differently With the biotechnology that exists today a feasible way to overcome this challenge is to identify a gene s that is directly associated to SLE Although up until recently genetic studies were for the most part inconclusive the complex nature of SLE suggests that improvements in its diagnosis prevention and treatment will result from further genetic research Lupus is a chronic autoimmune disease where the immune system instead of fighting harmful tissues such as viruses becomes hyperactive and attacks normal tissue 2 When the immune system goes wrong it produces auto antibodies that circulate in the blood and can enter some of the body s cells namely in the skin joints and kidneys that have walls permeable enough to let them in These antibodies can then attack the DNA in the cell s nucleus and cause painful and debilitating inflammation 3 There are three different kinds of lupus Discoid lupus also known as Cutaneous lupus affects the skin Systemic lupus attacks multiple systems in the body which may include the skin joints 1 Prokunina L et al A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus inhumans Nature Genet 28 October 2002 2 3 OMIM 152700 Http www uklupus co uk Lopez 2 blood lungs kidneys heart brain and nervous system and finally drug induced lupus which may develop after taking certain prescription medications4 The complexity of the disease s etiology poses one of the greatest challenges to improving its diagnosis and treatment The definite origin of lupus is not presently known it is likely to be a combination of factors including genetics the environment and drugs 5 For most people lupus is not simply an inherited disease it develops because a person carries a genetic predisposition to lupus This does not necessarily mean that the person will contract the disease however the risk that their hormonal make up and or certain environmental factors will elicit the disease is greater ultraviolet light is one of the major factors that exacerbate the development of the disease Finally dozens of medications have been reported to trigger lupus in patients whether or not they have the predisposition gene6 The etiological uncertainties of this disease pose two challenges for medical practitioners first of all diagnosis becomes difficult because one single test may not identify all cases and secondly the same treatment may not be effective for every patient if their case of lupus comes from a different source Currently the methods utilized to diagnose SLE are neither timely nor efficient A survey of Lupus Foundation of America members suggests that more than half of those afflicted with lupus saw three or more doctors before obtaining a correct diagnosis 7 One of the problems is that there is no one definitive diagnostic test for SLE the doctor has to do a full examination of the patient and do various tests before looking at all the evidence and coming to a conclusion Since SLE is a multi system disease there have to be 4 OMIM 152700 OMIM 152700 6 OMIM 152700 7 www lupus org 5 Lopez 3 symptoms in many parts of the body and blood tests that support its presence However it can take time for the disease to show up in blood tests which then often give inconsistent results switching from positive to negative each time 8 Thus there is a high probability that a diagnosis based on blood tests is inaccurate Another criteria for the diagnosis is that a person exhibit four of the eleven symptoms ranging from skin rashes to joint pain 9 The problem with this method is that it can take months or even years for enough symptoms to show up for the doctor to be able to make an accurate diagnosis 10 a further flaw is that since many of the symptoms are also indicators of other diseases there is no guarantee that SLE is the underlying cause One final challenge for SLE diagnosis is that the disease can attack different organ systems of the body and thus each diagnosis must be tailored to a specific case The use of molecular diagnostics the ability to identify or predict a disease based on an individual s genetic profile would significantly improve the accuracy and timeliness of SLE diagnosis as well as give way to a form of preventive medicine Once researchers find a definite gene s predisposing SLE patients will be able to take genetic tests giving accurate results regarding their predisposition to the disease Although predisposition does not equal infection diagnosis based on symptoms will be more accurate if the doctor knows whether the patient has tested positively or negatively for the gene symptoms in a predisposed patient will gain more significance Furthermore since doctors could identify patients that are more susceptible to the disease even before 8 http www uklupus co uk The symptoms can include Arthritis muscle pain and weakness fatigue sun sensitivity hair loss Butterfly or malar rash fever anemia headaches recurrent miscarriages Some people will have only a few symptoms others may have them all http www uklupus co uk 9 10 http www uklupus co uk Lopez 4 symptoms began they would be able to prevent the disease by advising those patients to avoid environmental factors that could elicit or exacerbate the disease such as ultraviolet light or certain medications Here genetic research leads to a form of preventive medicine which has the benefit of sparing the patient the painful inflammations that result from the disease In addition to improving diagnosis genetic findings can aid in the development of better treatment According to the Lupus Foundation of America four of ten lupus patients are treated by three or more doctors and take six or more medications to treat symptoms of the disease 11 This evidence implies two problems patients are not receiving adequate treatment from their physicians and many of the prescribed medications are not very
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