Genome-wide association studies (GWAS) revealed regions of linkage that were found on most chromosomes. These studies are useful in identifying the genes that may be responsible for complex diseases such as SLE. Candidate gene loci implicated with SLE include multiple alleles from the HLA region, Fc-gamma receptor, and complement component system. However, association does not prove that a specific form of a gene is responsible for the disease, as there may be other polymorphisms in the region that have a greater association effect. However, because the biological role of most genes are not completely understood, it can be difficult to attribute phenotypic traits to certain genetic polymorphisms. Since SLE is associated with so many genetic regions, it is likely an oligogenic trait, meaning that there are several genes that control susceptibility to the disease. Further complicating our understanding is the association of certain linkages with various ethnic groups.
García-Carrasco M1, Mendoza-Pinto C, Cardiel MH, Méndez-Martínez S, García-Villaseñor A, Jiménez-Hernández C, Alonso-García NE, Briones-Rojas R, Ramos-Álvarez G, López-Colombo A. "Health related quality of life in Mexican women with systemic lupus erythematosus: a descriptive study using SF-36 and LupusQoL(C)." Lupus 21.11 Oct. 2012.
Joints that are red, warm, tender, and swollen may signal lupus. Aching and stiffness alone aren’t enough; the joints have to be affected by arthritis and these other "cardinal signs of inflammation," says Michael Belmont, MD, director of the lupus clinic at Bellevue Hospital and medical director at the New York University Hospital for Joint Diseases in New York City.
Lupus, also known as Systemic Lupus Erythematosus or SLE, is a complex disease that can be difficult to diagnose. It affects many areas of body including the joints, skin and kidneys. More than 200,000 people in the U.S. are diagnosed with lupus each year. Like other autoimmune diseases, in lupus, cells essentially make the bad decision to attack the body’s own cells.
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Lupus is an incredibly complex autoimmune disease and diagnosing lupus can take a lot of time and many doctor visits. Patients will often get diagnosed with other “overlap” diseases such as rheumadoid arthritis (RA), Sjogren’s Syndrome, scleroderma, fibromyalgia or Raynaud’s Phenomenon even before a diagnosis of lupus is made. This can be incredibly frustrating for you as well as your doctors. Understanding the process of getting a lupus diagnosis is one of the most common questions we get here as well as a main topic in the discussions on our Facebook page and our other social media platforms. The goal of this blog is to give a clear understanding of the diagnosis process and provide the tools needed to go back to your doctor (or a new doctor) armed with the information you need.
The following drugs are commonly used to treat the inflammation and symptoms of lupus. Since lupus manifests in different ways in different people, treatment regimens differ from patient to patient. In addition, one patient may experience several different treatment regimens during her/his lifetime. It is important that you understand the medications you are taking and the risks, benefits, and restrictions associated with them. Please remember to take your medications exactly as directed by your physician and to address any questions or concerns upon your next visit.
Other diseases and conditions that can accompany lupus include fibromyalgia, coronary heart disease, nonbacterial valvular heart disease, pancreatitis, esophagus disease with difficulty swallowing (dysphagia), swollen lymph nodes (lymphadenopathy), liver disease (lupoid hepatitis), infections, and a tendency to spontaneous blood clotting and thrombosis.
If you have lupus you may have noticed that certain foods tend to lead to lupus flares. A lupus flare is a period when the symptoms of lupus become more active. Kathleen LaPlant, of Cape Cod, Mass., was diagnosed with systemic lupus several years ago. "I have learned to be careful with foods that seem to trigger lupus symptoms. The biggest trigger for me has been fried foods. I have had to eliminate these from my diet," says LaPlant. It is hard to predict which foods may trigger a lupus flare, but you can start by paying close attention to your diet. If a particular type of food repeatedly causes problems, try taking it out of your diet and see if it makes a difference.
Individual test results can also vary from one visit to another, which can be very confusing. A doctor will take into consideration a combination of factors as well as the test results when diagnosing lupus, and because of this, we encourage you inquire about the ANA and DNA testing, which doctors are often reluctant to give. These two tests together can create a clearer picture of whether the diagnosis could be lupus. Again, we must remind you that just because you test negative today, it does not mean that you won’t test positive tomorrow.
Useful medication for the disease was first found in 1894, when quinine was first reported as an effective therapy. Four years later, the use of salicylates in conjunction with quinine was noted to be of still greater benefit. This was the best available treatment until the middle of the twentieth century, when Hench discovered the efficacy of corticosteroids in the treatment of SLE.
Blood clots are more common in people with lupus. Clots often occur in the legs (called deep venous thrombosis or DVT) and lungs (called pulmonary embolus or PE) and occasionally in the brain (stroke). Blood clots that develop in lupus patients may be associated with the production of antiphospholipid (APL) antibodies. These antibodies are abnormal proteins that may increase the tendency of the blood to clot. Blood can be tested for these antibodies.
The cause of lupus remains unknown, but there is solid evidence that genetics, epigenetics (changes in chromosomes that affect gene activity), environmental factors, viruses and infections play a role. Further study of these variables is expected to improve our understanding of causes, which should lead to improved diagnosis, prognosis, prevention, and treatment.
Drug-induced lupus erythematosus (DIL) Some drugs can cause lupus, resulting in symptoms such as rash, arthritis, hair loss, and fever. “Once medications are discontinued, the symptoms go away,” says Roberto Caricchio, MD, the interim section chief of rheumatology at Temple University Hospital in Philadelphia and the director of the Temple Lupus Clinic at the Lewis Katz School of Medicine.
Jump up ^ Johanneson, Bo; Lima, Guadalupe; von Salomé, Jenny; Alarcón-Segovia, Donato; Alarcón-Riquelme, Marta E.; Collaborative Group on the Genetics of SLE, The BIOMED II Collaboration on the Genetics of SLE and Sjögrens syndrome (2002-11-01). "A major susceptibility locus for systemic lupus erythemathosus maps to chromosome 1q31". American Journal of Human Genetics. 71 (5): 1060–1071. doi:10.1086/344289. ISSN 0002-9297. PMC 385085. PMID 12373647.
Because the antibodies and accompanying cells of inflammation can affect tissues anywhere in the body, lupus has the potential to affect a variety of areas. Sometimes lupus can cause disease of the skin, heart, lungs, kidneys, joints, and/or nervous system. When only the skin is involved by rash, the condition is called lupus dermatitis or cutaneous lupus erythematosus. A form of lupus dermatitis that can be isolated to the skin, without internal disease, is called discoid lupus erythematosus. When internal organs are involved, the condition is referred to as systemic lupus erythematosus (SLE).
No overarching diet exists for people with lupus. However, lupus is a systemic disease, so maintaining good nutritional habits will help your body remain as healthy as possible. Generally, doctors recommend a diet composed of about 50% carbohydrates, 15% protein, and 30% fat. However, since people with lupus often experience symptoms like weight loss or gain, inflammation, osteoporosis, kidney disease, high blood pressure, and atherosclerosis, certain specific nutritional concerns may also need to be taken into consideration. If you need help managing your weight or making healthy food choices, please speak with your doctor. S/he can give you more specific information and refer you to a registered dietitian if needed.
Lupus is a chronic autoimmune condition in which the immune system attacks the body’s own healthy tissue and organs. Depending on the specific patient, lupus can cause high levels of persistent inflammation that can negatively affect various parts of the body. Lupus patients often experience tissue damage that affects the heart, joints, brain, kidneys, lungs and endocrine glands (such as the adrenals and thyroid gland). Although it’s not completely known why this happens, lupus risk factors are believed to include: (2)
As an autoimmune disease that effects many different systems in the body, no food can cause lupus, this we know. What we know for certain, is that the foods that you eat and the medications you take, can have an effect on the severity of symptoms, as well as the frequency of lupus flares. Some of the most important issues that specifically relate to lupus patients, with regards to diet and nutrition are;
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Rates of positive ANA tests are affected by the prevalence of systemic lupus erythematosus in the population. Specifically, false-positive rates will be higher in populations with a low prevalence of the disease, such as primary care patients. Because of the high false-positive rates at 1:40 dilution, ANA titers should be obtained only in patients who meet specific clinical criteria (discussed in the clinical recommendations section of this article). When ANA titers are measured, laboratories should report ANA levels at both 1:40 and 1:160 dilutions and should supply information on the percentage of normal persons who are positive at each dilution.41
Women with lupus have a higher risk of miscarriage and preterm labor, says Kaplan. Pregnant women with lupus also have a higher risk of preeclampsia, or high blood pressure, and signs that the kidneys and liver may not be functioning well. (20) If you have lupus and do get pregnant (or if you have lupus and are trying to get pregnant), see a high-risk maternal-fetal medicine specialist who has expertise in how to best handle such pregnancies.
A mononuclear phagocytic white blood cell derived from myeloid stem cells. Monocytes circulate in the bloodstream for about 24 hr and then move into tissues, at which point they mature into macrophages, which are long lived. Monocytes and macrophages are one of the first lines of defense in the inflammatory process. This network of fixed and mobile phagocytes that engulf foreign antigens and cell debris previously was called the reticuloendothelial system and is now referred to as the mononuclear phagocyte system (MPS).
I recommend having your MTHFR genes tested, as this genetic mutation can impact how you detoxify mercury and other heavy metals. There are multiple options for heavy metal testing, however I’ve found the DMPS “challenge” test to be the gold standard. To assess whether someone is being exposed to mycotoxins, I use the test from Real Time Lab. If either heavy metals or mycotoxins are an issue for you, work on minimizing your exposure to these toxins, and be sure to support your detox pathways while you work to flush them out.
We conducted a systematic evidence-based review of the published literature on systemic lupus erythematosus. After searching several evidence-based databases (Table 1), we reviewed the MEDLINE database using the PubMed search engine. Search terms included “lupus not discoid not review not case” and “lupus and treatment and mortality,” with the following limits: 1996 to present, abstract available, human, and English language. One author reviewed qualifying studies for relevance and method.
Inflammation of the pleurae known as pleurisy can rarely give rise to shrinking lung syndrome. SLE can cause pleuritic pain and also give rise to shrinking lung syndrome, involving a reduced lung volume. Other associated lung conditions include pneumonitis, chronic diffuse interstitial lung disease, pulmonary hypertension, pulmonary emboli, and pulmonary hemorrhage.
A lesion of the skin or mucous membranes marked by inflammation, necrosis, and sloughing of damaged tissues. A wide variety of insults may produce ulcers, including trauma, caustic chemicals, intense heat or cold, arterial or venous stasis, cancers, drugs (such as nonsteroidal anti-inflammatory drugs [NSAIDs]), and infectious agents such as Herpes simplex or Helicobact
If you plan to add herbs, dietary supplements, or vitamins to your diet, you should discuss your decision with your lupus doctor first. This is especially important as herbs or supplements may interact with medicines used to treat lupus. Herbs or supplements should never be used to replace medicines prescribed to control symptoms of lupus or medication side effects.
Combination treatment: Health care providers may combine a few medications to control lupus and prevent tissue damage. Each treatment has risks and benefits. Most immune-suppressing medications may cause side effects and require close monitoring. Side effects of these drugs may include a raised risk of infections as well as nausea, vomiting, hair loss, diarrhea, high blood pressure, and osteoporosis (weak bones). Rheumatologists may lower the dose of a drug or stop a medicine because of side effects or when the disease goes into remission. As a result, it is important to receive careful and frequent health exams and lab tests to track your symptoms and change your treatment as needed.
Why the test is used: Between 75% and 90% of people with lupus have a positive anti-dsDNA test. Also, the test is very specific for lupus. Therefore, a positive test can be useful in confirming a diagnosis. For many people, the titer, or level, of the antibodies rises as the disease becomes more active. So, doctors can also use it to help measure disease activity. Also, the presence of anti-dsDNA indicates a greater risk of lupus nephritis, a kidney inflammation that occurs with lupus. So a positive test can alert doctors to the need to monitor the kidneys.
Patients of African-American or African descent did not show significant responses to belimumab in phase III post-hoc analysis, but those studies were not powered to assess for this effect; in a phase II trial, blacks had a greater treatment response. These results indicate that the benefits of belimumab in SLE patients remain inconclusive and that further investigation is needed. Patients with severe active lupus nephritis or CNS lupus or patients previously treated with other biologics or cyclophosphamide have been excluded from participation in early trials.
These are low in nutrients and may also contribute to poor digestion, weight gain, inflammation and other symptoms. Most also contain gluten, a type of protein found in wheat, barley, rye and most flour-containing products. Gluten sensitivity or intolerance is common in those with autoimmune disorders because gluten can be difficult for many people to digest properly, increasing leaky gut syndrome and triggering symptom flare-ups. (6)
There have been several diet studies using omega-3 fatty acids in people who have lupus. A 2012 study looked at the eating habits of 114 SLE patients. They found that those who had a diet low in omega-3 fatty acids had worse lupus disease activity as well as higher levels of cholesterol and atherosclerosis (which can cause heart attacks and strokes). Therefore, it is important for people who have lupus to supplement their diet with foods rich in omega-3 fatty acids, olive oil, or supplements containing these oils. Not only may this possibly improve lupus disease activity, but it may also improve cholesterol levels, which could help to decrease the risk of getting heart attacks, strokes and blood clots.
People with lupus should know that most rashes, and sometimes other symptoms, are aggravated by sun exposure, so you’ll want to avoid it or use sun protection. It’s critical to talk to your doctor about skin rashes and lesions that you observe, as many are treated differently, and some can be signs that the disease is progressing or changing. You may need other treatments, too.
Antimalarials are another type of drug commonly used to treat lupus. These drugs prevent and treat malaria, but doctors have found that they also are useful for lupus. A common antimalarial used to treat lupus is hydroxychloroquine. It may be used alone or in combination with other drugs and generally is used to treat fatigue, joint pain, skin rashes, and inflammation of the lungs. Clinical studies have found that continuous treatment with antimalarials may prevent flares from recurring.
The panel judged the effect of extended AC as a large benefit, reducing VTD with increase in bleeding risk as a moderate harm. For the comparisons of different AC intensities, the panel decided to use the evidence from observational studies because it judged that it probably better reflects reality given that the randomised controlled trials (RCT) are severely flawed (indirectness of intervention as most patients did not reach the INR >3 goal). They judged the reduction in VTD as a large benefit and the bleeding increase as a large harm. Hence, the panel considered that the balance could favour the intervention only when the risk of VTD recurrence is particularly high.
Cognitive impairment is defined as any difficulty with normal thought functions or processes, such as thinking, learning, or remembering. Cognitive impairment can occur as a neurological symptom of lupus. However, cognitive impairment is a common occurrence that happens to everyone at some time, not just lupus patients, and it can affect one single thought process or many thought processes either temporarily or permanently.
To ensure that the person has lupus and not another autoimmune disease, the American College of Rheumatology (ACR) established a list of clinical and immunologic criteria that, in any combination, point to SLE. The criteria include symptoms that the person can identify (e.g. pain) and things that a physician can detect in a physical examination and through laboratory test results. The list was originally compiled in 1971, initially revised in 1982, and further revised and improved in 2009.
Another recent development is the shift regarding omega-3 fatty acids, which were believed to be beneficial in patients with lupus by decreasing inflammation. “We showed that omega-3 did not affect disease activity, improve endothelial function, or reduce inflammatory markers, though there was evidence that omega-3 may increase [low-density lipoprotein] LDL cholesterol,” said Dr Stojan. “We no longer recommend omega-3 supplementation in lupus patients.”
Infections and diseases of the cardiovascular, renal, pulmonary, and central nervous systems are the most frequent causes of death in patients with systemic lupus erythematosus.8,23,32–37 Since the 1950s, the five-year survival rate for patients with systemic lupus erythematosus has increased from 50 percent to a range of 91 to 97 percent.8,23,32–34,38,39 It is not known how much of this increase in survival is due to improved management versus diagnosis of earlier and milder disease. Higher mortality rates are associated with seizures, lupus nephritis, and azotemia.36,37,40
Lupus can bring all sorts of physical and emotional challenges, especially if you're newly diagnosed. Learning to cope with your disease takes time and practice, and includes things like educating yourself and your loved ones about your disease, taking care of yourself by getting enough rest and eating well, learning how to manage your flares, and getting support.
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