What is Systemic Lupus Erythematosus?
Systemic lupus erythematosus (SLE) is a medical condition where the body’s immune system mistakenly attacks healthy tissue in many parts of the body. This disease can take many forms, with symptoms ranging from mild skin and mouth issues to severe problems affecting multiple organs, including the brain. There are several biological factors that contribute to the development of SLE. In 1948, Dr. Hargraves discovered a specific cell associated with lupus, known as the lupus erythematosus (LE) cell. Since then, more harmful autoantibodies (proteins your body mistakenly makes to attack its own cells) associated with this disease have been identified. Even with advancements in technology and our understanding of how and why SLE develops, the exact cause of this disease is still not fully understood. Diagnosing SLE can be difficult, and there is no universally agreed-upon set of criteria for doing so. Treating SLE depends on which organs the disease is affecting. While there are several treatments available that have been shown to help manage SLE symptoms, the disease can still greatly affect a patient’s health and longevity.
What Causes Systemic Lupus Erythematosus?
Systemic lupus erythematosus (SLE), or lupus, is a disease that affects many parts of the body and we still don’t know exactly why it happens. However, we think it probably occurs due to a mix of factors related to our genes, our immune system, our hormones, and our environment.
There’s evidence that genetics may play a role in lupus because it tends to run in families and is more common in identical twins. Researchers have found that over 100 different spots on our genes (loci) can be related to lupus. Also, more than 30 specific genes have been linked to lupus or lupus-like diseases. These genes influence how our immune system responds to foreign particles, how it recognizes our own cells, and how its various parts (like the innate and adaptive immune systems) are activated. Some rare gene changes increase the risk of lupus quite a lot, like deficiencies of C1q, C1r, C1s, C4, and C2. Other genes that have been linked to lupus include HLA-DRB1, HLA-DR2, HLA-DR3, HLA-DRX, TNFAIP3, STAT-4, and others. The highest risk of developing lupus is linked to genes found in a region called the major histocompatibility complex (MHC), which help present foreign particles to our immune system.
Besides genetics, sex is also important. Women have a risk of developing lupus that’s ten times higher than men, and men with Klinefelter syndrome (an extra X chromosome) have a risk 14 times higher. This suggests that genes found on the X chromosome may be involved, though we’re still not certain which ones. Hormones also play a role – estrogen, a hormone more predominant in women, seems to stimulate certain parts of our immune system and may increase the risk of lupus. Certain oral contraceptives and hormone replacement therapy that contain estrogen have been related to higher risks and disease flares in people with lupus.
Lupus can also be triggered or worsened by certain environmental factors. These include drugs, ultraviolet rays from sunlight, viral infections, and even smoking. Some drugs can cause a lupus-like condition by changing the cell’s DNA structure, while others, like sulfas, are known to cause flare-ups in people already diagnosed with lupus. In addition to these, exposure to silica, vitamin D deficiency, and certain foods (like alfalfa sprouts) have also been associated with increased lupus risk.
Risk Factors and Frequency for Systemic Lupus Erythematosus
Systemic Lupus Erythematosus (SLE), a complex disease, shows different prevalence and incidence rates around the world, differences mainly due to the characteristics of the local population. The occurrence rates reported by lupus registries in Georgia and Michigan suggest prevalence rates between 72.1 and 74.4 per 100,000 people, and incidence rates of 5.6 per 100,000 person-years. These statistics mainly reflect the rates among Caucasian and African-American communities. Among all, African-Americans have the highest rates, followed by rates in Asian and Hispanic populations, which are higher than those of Caucasians.
SLE most often affects women who are at childbearing age. In fact, the ratio of females to males affected by this disease is 9 to 1. The risk for women, however, decreases after menopause, although it is still twice the risk faced by men. Studies have shown that lupus is more severe in men, even though it’s rare in this group. Men with lupus also tend to have more skin symptoms, kidney disease, vascular inflammation, and other specific conditions compared to women.
Age also plays a significant role in this disease. Although more common in women of childbearing age, it can also affect children and the older population. Kids with SLE often face severe forms of the disease, experiencing symptoms like rashes, kidney inflammation, and enlarged organs more often than adults. However, in older people, the condition tends to slowly develop, showing more involvement with the lungs, inflammation of the organs covered by serous membranes and fewer cases of specific symptoms found in other age groups.
Signs and Symptoms of Systemic Lupus Erythematosus
Systemic Lupus Erythematosus (SLE) is a disease that can affect a variety of body systems. It exhibits several disease forms, ranging from mildly affecting the skin and mucous membrane to seriously life-threatening with multiple organs involved. In some instances, testing for certain autoantibodies can help predict the course of the disease. Subclinical forms of SLE, defined by particular serological aberrations and some symptoms but not enough to meet SLE diagnostic criteria, can evolve into full-blown SLE later.
Over 90% of individuals diagnosed with SLE experience constitutional symptoms which include fatigue, malaise, loss of appetite, weight loss and sometimes fever. Early on, these symptoms are usually the first to appear. The skin and mucous membranes are reportedly affected in more than 80% of patients. Acute Cutaneous Lupus Erythematosus (ACLE), Subacute Cutaneous Lupus Erythematosus (SCLE), and Chronic Cutaneous Lupus Erythematosus (CCLE) are specific skin conditions linked to SLE. Such conditions can result in a variety of rashes and marks, the most famous being the malar or “butterfly” rash on the face. Other areas of the body can also be affected.
There’s a long list of complications and conditions that SLE can cause, affecting body systems such as musculoskeletal, hematological, neurological, pulmonary, cardiovascular and gastrointestinal. Common complications include issues such as arthritis, anemia, neurological disorders, kidney inflammation (nephritis), and complications during pregnancy. However, SLE manifestations can be highly variable, differing from patient to patient.
The diagnosis requires thorough examination and often comes with the help of classification criteria developed by medical organizations such as the American College of Rheumatology (ACR) and the Systemic Lupus International Collaborating Clinics (SLICC). Ladies and gentlemen suffering from SLE meet some of the stated criteria which typically encompass both clinical and immunological factors.
SLE can affect so many systems in the body and in different ways, which is what makes this disease so complex and why it requires an expert physician for diagnosis. These classification criteria can aid in identifying the disease, but making a final diagnosis of SLE is done on an individual patient basis, considering the combination of clinical symptoms and laboratory findings.
Testing for Systemic Lupus Erythematosus
Diagnosing systemic lupus erythematosus (SLE), also known simply as lupus, can be quite tricky. Lupus is not diagnosed through a single symptom or lab test but rather a combination of different signs and a series of relevant blood tests. Imaging and study of tissues under a microscope could also help in diagnosing the disease.
There are several types of lupus, and each type may be connected to certain types of “autoantibodies.” Autoantibodies are antibodies, or disease fighting cells, that the immune system produces against itself.
A test for antinuclear antibodies (ANA), antibodies that attack the body’s own cells, is usually the first step. A positive result could be an indicator of lupus, but more than 97% of lupus cases show positive ANA results. However, since ANA can also be positive in many other conditions and even in healthy individuals, a positive ANA result doesn’t guarantee a lupus diagnosis.
Though there are different types of patterns in which ANAs appear in the test, they are not usually considered significant enough to establish a diagnosis. One exception to this is ANAs with a specific pattern, known as the ‘dense fine speckled’ pattern, which rarely develop into lupus or any other kind of autoimmune disease.
Once a positive ANA response is detected, the next step is to check for more specific autoantibodies to identify the ANA’s target. Certain specific targets or antigens, substances that trigger an immune response, have more clinical relevance in treating and understanding lupus.
Another important type of antibodies are those that are reactive to DNA, either single or double-stranded. While antibodies to single-stranded DNA are considered non-specific and often seen in a healthy population, antibodies to double-stranded DNA (dsDNA) are highly specific to lupus diagnosis.
Other specific antibodies are also tested in lupus, like anti-Ro (SSA) and anti-La (SSB), anti-Smith, and anti-U1-RNP – each associated with a certain set of symptoms and conditions.
In addition to these specific tests, complete health checkups including complete blood test, liver and kidney health tests and other regular health examinations are executed to assess organ involvement.
When suspected, specialists also conduct procedures for organ-specific conditions like lupus nephritis (a type of kidney inflammation), and atypical skin conditions. If organ involvement is suspected, imaging tests like CT scan or MRI is performed to get a clearer detail of the organ’s state.
Overall, diagnosing lupus involves a confluence of synchonized detective work including physical evaluation for symptoms, specific lab tests, imaging tests and organ health check-ups – and is guided by the experience of the treating healthcare professional.
Treatment Options for Systemic Lupus Erythematosus
The aim of treating SLE, which stands for systemic lupus erythematosus, is to stop it from damaging organs and to get its symptoms under control. The span of treatments can be quite broad, from mild ones like NSAIDs and antimalarials, to stronger ones like cytotoxic drugs and corticosteroids, depending on the severity and which organs are involved.
Managing SLE isn’t just about medical treatment. Patient education, physical activities, lifestyle changes, and emotional support are all very important. Patients should understand how SLE works, how it can affect their organs, and how important it is to stick to their medication regime and be regularly monitored.
Techniques to reduce stress, along with good sleep habits, exercise, and emotional support should be promoted. Make sure to avoid smoking and certain foods like alfalfa sprouts and echinacea, and instead include foods rich in vitamin D in your diet. Since SLE patients can be sensitive to sunlight, it’s key to avoid direct sun exposure by wearing protective clothing and using sunscreen with a sun protection factor (SPF) of 30 or more.
Treatment can differ depending on which symptoms or manifestations come up:
– Skin issues: Topical creams can be used for mild skin symptoms, while other medications like hydroxychloroquine can be very effective for most skin-related symptoms. If that doesn’t work, other medications like methotrexate or mycophenolate mofetil can be considered.
– Joint pain: hydroxychloroquine is usually the first drug used for lupus-related arthritis, but other treatments can be considered if it’s not effective.
– Blood issues: For moderate to severe cases, steroids are usually the first-line treatment. However, some cases may require treatments like rituximab or cyclophosphamide.
– Heart and lung issues: NSAIDs or steroids can help with inflammation. For more severe cases, stronger treatments like mycophenolate mofetil or cyclophosphamide may be needed.
– Brain and nervous system issues: High-dose steroids along with other medications like cyclophosphamide, azathioprine, or rituximab can be used to treat inflammation related to the brain and nervous system.
– Kidney issues: For lupus nephritis, or inflammation of the kidneys due to lupus, there is a step-up approach in treatments that start with a high-dose steroid and can include other drugs like azathioprine or mycophenolate mofetil, depending on the severity.
– Pregnancy issues: SLE can affect pregnancy as well. Women are usually advised to get pregnant only when their lupus has been stable for at least six months to avoid flares. Some lupus medications are safe during pregnancy, but others should be avoided.
Besides these specific treatments for manifestations, hydroxychloroquine is often used in all SLE patients for its several benefits. Also, because steroids are used often in SLE, patients should be checked for long-term side effects like osteoporosis and cataract. Most immunosuppressive drugs used in SLE come with potential side effects that need close monitoring.
What else can Systemic Lupus Erythematosus be?
SLE, or Systemic Lupus Erythematosus, is a disease that affects the whole body and can impact many organs. However, several other conditions can mimic the symptoms of SLE, making it difficult to diagnose. Here are a few:
- Other Autoimmune Diseases: Conditions like Rheumatoid Arthritis (RA) can present similar symptoms to SLE. This could include joint pain, inflammation, and even positive blood tests for autoantibodies common in SLE. Drug-induced lupus is another condition to consider, which shares many symptoms with SLE but typically resolves once the problematic medication is stopped.
- Adult-onset Still Disease: Characterized by joint pain, fever, swollen lymph nodes, and an enlarged spleen. While this disease does not have the facial rash or specific autoantibodies associated with SLE, it can mimic some of its symptoms.
- Behcet’s Disease and Sarcoidosis: Present with mouth ulcers, inflammation of the eye, and joint pain, but lack other symptoms associated with SLE. Sarcoidosis specifically can cause fever, coughing, and shortness of breath, and shows distinctive signs on a chest X-ray.
- Viral Infections: Certain viruses, including Parvovirus B19, Hepatitis B and C, CMV, EBV and HIV, may cause symptoms similar to SLE. Testing for these infections can help reach an accurate diagnosis.
- Infectious Endocarditis: This infection of the heart’s inner lining can cause fever, joint pain and heart murmurs. Blood tests can help distinguish this condition from SLE.
- Malignancies: Certain types of cancer, especially Non-Hodgkins Lymphoma, can present symptoms like fatigue, weight loss, fever, joint pain, and positive ANA. In older patients presenting with lupus-like symptoms, screening for cancer should be considered.
Making a correct diagnosis involves considering these and other possibilities and using appropriate tests to rule out these conditions.
What to expect with Systemic Lupus Erythematosus
Despite improvements in treatment options and understanding of Systemic Lupus Erythematosus (SLE – an autoimmune disease where the immune system mistakenly attacks the body’s tissues), people living with SLE still face significant health risks and have a higher chance of death. Survival rates for patients in the first ten years usually range between 85 to 90%. Major reasons for deaths include heart disease, infections, and kidney disease.
Early detection and treatment to prevent damage to organs, along with regular health checks and early interventions for heart disease and infections, can potentially improve these outcomes.
Certain factors can make the prognosis of SLE worse. These include being of African American descent, having kidney disease, being male, being young, having high blood pressure, being in a lower socioeconomic status, having a particular type of autoimmune disorder called antiphospholipid antibody syndrome, having antiphospholipid antibodies (proteins produced by the immune system that mistakenly attack the body’s own cells), and overall high disease activity.
Possible Complications When Diagnosed with Systemic Lupus Erythematosus
Patients with Systemic Lupus Erythematosus (SLE) can experience a broad range of complications, either directly due to the disease itself or as side effects of their medication.
The disease may cause numerous complications such as accelerated hardening of the arteries, which can lead to heart disease even in younger people. Also, advanced kidney disease, and neurological problems that might include blindness due to mental disturbances can happen. Serious skin damage and hair loss are possible, especially if the patient has a severe type of lupus called discoid lupus. Patients with SLE are more likely to struggle with anxiety and depression. Pregnant patients might encounter multiple issues, including miscarriage, high blood pressure during pregnancy, heart issues in the newborn, and a condition called neonatal lupus.
Medications to treat SLE can also cause side effects that require careful monitoring. Long-term use of corticosteroids, for example, can lead to overlooked and undertreated fragile bones, which can result in fractures. This medication can also cause a condition known as avascular necrosis, glaucoma, cataracts, weight gain, and poor diabetes control. High doses of corticosteroids can lead to infections and sudden mental disturbances. Another drug called hydroxychloroquine can rarely cause irreversible damage to the eye, thus regular eye examinations are recommended. Cyclophosphamide, a medication used in treatment, is linked with a very high risk of bladder inflammation and cancer, even after discontinuing the drug. Patients with SLE have a weakened immune system, which makes them particularly susceptible to infections, a major cause of illness and death among these patients.
Common SLE Complications:
- Accelerated hardening of the arteries
- Advanced kidney disease
- Neurological problems, potentially leading to blindness
- Skin damage and hair loss
- Increased likelihood of anxiety and depression
- Pregnancy-related complications, including high blood pressure, neonatal lupus and miscarriages
- Fragile bones and fractures due to long-term corticosteroid use
- Avascular necrosis, glaucoma, cataracts, and weight gain due to medication
- Mental disturbances and infections due to high doses of corticosteroids
- Irreversible eye damage due to hydroxychloroquine
- Bladder inflammation and cancer linked to cyclophosphamide use
- Infections due to weakened immune system
Preventing Systemic Lupus Erythematosus
As mentioned earlier, providing patients with knowledge about their condition is crucial for managing Systemic Lupus Erythematosus (SLE), a disease where the immune system starts to attack the body itself. By knowing about the potential signs and symptoms of damage to major organs, patients can seek help at the earliest, helping to prevent severe damage to these organs. Also, it’s important for patients to understand why it’s necessary to stick to the prescribed medication schedule.
Making adjustments to diet and lifestyle, like wearing sun-protective clothing and quitting smoking, can also be beneficial. Anxiety, depression, and stress are more common in patients with SLE, partly due to the strain of dealing with the disease and its complications. Support groups, cognitive-behavioral therapy, a type of talk therapy that helps people understand and change thought patterns that lead to harmful behaviors or emotional trouble, and, when necessary, care from a mental health professional, can all provide much-needed help.
