Systemic lupus erythematosus (SLE): Symptoms, Causes, Diagnosis, Complications and Prevention


Systemic lupus erythematosus (SLE) is an autoimmune disease where the immune system of body mistakenly attacks healthy tissue. It can affect the skin, joints, kidneys, brain, and other organs.

April 5, 2018

Systemic lupus erythematosus (SLE): Symptoms, Causes, Diagnosis, Complications and Prevention

Systemic lupus erythematosus (SLE) is an autoimmune disease where the immune system of body mistakenly attacks healthy tissue. It can affect the skin, joints, kidneys, brain, and other organs.
The immune system normally fights against dangerous infections and bacteria to keep the body healthy. When the immune system attacks the healthy tissue of body getting confused it for something foreign, an autoimmune disease occurs. The immune system fights infections by producing antibodies that bind to the microbes. People with lupus produce abnormal antibodies in their blood which are known as autoantibodies that target tissues within their own body rather than foreign infectious agents.
The term lupus has been used to identify a number of immune diseases. But SLE is the most common type of lupus. SLE is a chronic disease that can have phases of worsening symptoms that alternate with periods of mild symptoms.
Lupus has the potential to affect a variety of areas in your body as the antibodies and inflamed cells can affect tissues anywhere. Lupus can cause disease of the skin, heart, lungs, kidneys, joints, and nervous system as well. The condition is called lupus dermatitis or cutaneous lupus erythematosus when only the skin is involved by rash.
Discoid lupus erythematosus is a form of lupus dermatitis that can be isolated to the skin, without internal disease. When internal organs are involved, the condition is referred to as systemic lupus erythematosus (SLE). The disease can affect all age groups but most commonly begins from 20 to 45 years of age. Women are most affected by this disease than men.
For those with mild symptoms treatment can be done by decreasing inflammation and/or the level of autoimmune activity with anti-inflammatory medications. Corticosteroids and cytotoxic drugs is used for those with more severe lupus.
Flares of disease can be prevented by avoiding sun exposure, not discontinuing medications, and monitoring your condition with the doctor.

Symptoms of SLE:

Symptoms can vary from person to person and can change over time. Common symptoms include:

  • severe fatigue
  • joint pain
  • joint swelling
  • swollen lymph nodes
  • headaches
  • mouth sores
  • sensitivity to sunlight
  • hair loss which can be patchy or diffuse and appear to be more like hair thinning.
  • anemia
  • blood-clotting problems
  • chest pain when taking a deep breath
  • fingers turning white or blue and tingling when cold, which is known as Raynaud's phenomenon
  • a rash on the cheeks and nose, which is called a butterfly rash.

The rash can be widespread but it is painless and does not itch. The facial rash, along with inflammation in other organs, can get worsened by exposure to sunlight, a condition called photo-sensitivity. This photo-sensitivity can be accompanied by a flare of the disease which is worsening of inflammation throughout the body.
Everyone with SLE has joint pain and swelling at some time which may lead to arthritis. SLE often affects the joints of the fingers, hands, wrists, and knees. Depending on the part of the body the disease is attacking, such as the digestive tract, the heart, or the skin, there could be occurrence of other symptoms.
Headaches, numbness, tingling, seizures, vision problems, and personality changes occurs when brain and nervous system is affected. Brain involvement is referred to as lupus cerebritis. When digestive tract is affected, abdominal pain, nausea, and vomiting occurs. Abnormal heart rhythms or arrhythmias for heart, coughing up blood and difficulty breathing for lungs and swelling in the legs for kidney. Kidney inflammation in SLE (lupus nephritis) can cause leakage of protein into the urine, fluid retention, high blood pressure, and even kidney failure.
Patchy skin color and fingers that change color with cold happens when skin gets affected. This is called Raynaud phenomenon. Due to reduced blood supply to the fingers and toes, blanching, whitish and/or bluish discoloration, and pain and numbness in the exposed fingers and toes occurs. Discoid lupus have only symptoms related to skin.
Many of the lupus symptoms are similar to symptoms of many other diseases, which can create confusion while diagnosis. Other diseases and conditions that can accompany lupus include fibromyalgia, coronary heart disease, nonbacterial valvular heart disease, esophagus disease with difficulty swallowing (dysphagia), pancreatitis, swollen lymph nodes called lymphadenopathy, liver disease, infections, and a tendency to spontaneous blood clotting and thrombosis.

Causes of SLE:

The exact cause of SLE is unknown, but several factors such as genetics, environment, gender and hormone have been associated with the disease.
Lupus is not caused by an infectious microorganism and is not contagious from one person to another.

Genetics:

People with lupus does not necessarily will have a family history of lupus itself. But they often have family members with other autoimmune conditions. Rheumatoid arthritis, and autoimmune thyroid disorders are more common among relatives of people with lupus. It is possible to have more than one autoimmune disease in the same individual causing overlap syndromes of lupus and rheumatoid arthritis, or lupus and scleroderma, etc.
Sometimes, a genetic mutation in a gene that could disrupt the cellular waste disposal of the body may plays a role in initiating SLE. When the key enzyme fails to dispose the dying cells, the development of systemic lupus erythematosus may occur.
Usually the garbage DNA and other cellular debris are chopped into tiny fragments for easier disposal by DNase1 enzyme. When this process is hampered due to genetic mutation, SLE may occur.

Environment:

Environmental triggers can include:

  • ultraviolet rays
  • certain medications
  • trauma
  • viruses
  • physical or emotional stress

Medications that can trigger SLE include:

  • hydralazine is used for high blood pressure
  • quinidine and procainamide, used for abnormal heart rhythms
  • phenytoin used for epilepsy
  • isoniazid used for tuberculosis
  • d-penicillamine used for rheumatoid arthritis

Drug-induced lupus occurs as a side effect of one of these above medications.

Gender and hormones:

Women are more prone to SLE than men. Women also may experience more severe symptoms during pregnancy and with their menstrual periods. Therefore it is believed that the female hormone estrogen may play a role in causing SLE. However, more research is still needed to prove this theory.

Diagnosis of SLE:

No single test can confirm the diagnosis of systemic lupus as the patient have a wide variety of symptoms and different combinations of organ involvement.
There are 11 criteria used for diagnosing systemic lupus erythematosus which include:

  • Malar rash over the cheeks of the face
  • Discoid skin rash can be seen as patchy redness with hyperpigmentation and hypopigmentation that can cause scarring
  • Arthritis with two or more swollen, tender joints
  • Inflammation of the lining tissue around the heart or lungs called pericarditi or pleuritis, usually associated with chest pain upon breathing or changes of body position.
  • Spontaneous sores or ulcers of the lining of the mouth, nose, or throat termed as mucous membrane ulcers.
  • Skin rash in reaction to ultraviolet light of sunlight exposure called photo-sensitivity.
  • Kidney abnormalities. Abnormal amounts of urine protein or clumps of cellular elements called casts can be detectable with a standard urinalysis. A kidney biopsy may be necessary, in patients with kidney disease from systemic lupus erythematosus to figure out the cause of the kidney disease as being lupus-related or not and to determine the stage of the kidney disease in order to choose a proper treatment. Kidney biopsies are often performed by fine-needle aspiration of the kidney under radiology guidance. But a kidney biopsy can also be done during an open abdominal operation in certain circumstances.
  • Brain irritation followed by headaches, numbness, tingling, seizures, vision problems, and personality changes and even coma. Brain involvement is referred to as lupus cerebritis.
  • Blood-count abnormalities such as low white blood count (WBC) or red blood count (RBC), or platelet count known as leukopenia, anemia, and thrombocytopenia, respectively. Each of these can be detected with standard complete blood count testing (CBC).
  • Immunologic disorder. Abnormal immune tests include anti-DNA or anti-Sm antibodies, falsely positive blood test for syphilis, anticardiolipin antibodies, lupus anticoagulant, or positive LE prep test.
  • Antinuclear antibody. Positive ANA antibody testing can be done for the detection of antinuclear antibodies in the blood

When a person has four or more of these criteria, the diagnosis of SLE is strongly suggested. Other tests are also done in addition to these 11 criteria to determine the severity of organ involvement in evaluating people with SLE. These include routine testing of the blood to detect inflammation, blood-chemistry testing, direct analysis of internal body fluids, and tissue biopsies. Routine blood test include the erythrocyte sedimentation rate, or ESR, and the C-reactive protein, or CRP.
Abnormalities in body fluids such as joint or cerebrospinal fluid can help diagnosis of SLE. Kidney biopsy, skin biopsy, and nerve biopsy are done by collecting tissue samples to help diagnosis. A urinalysis and a chest X-ray is also helpful in the diagnosis.
The appropriate testing procedures are selected looking in to the overall condition of the patient with the suggestion of doctor. After the initial diagnosis your doctor might refer you to a rheumatologist, who specializes in treating joint and soft tissue disorders and autoimmune diseases. Dermatologists, nephrologists, hematologists, cardiologists, pulmonologists, and neurologists can also be involved in the care of patients with lupus depending on whether or not specific organs are targeted.

Complications of SLE:

On long run, SLE can damage many organs in the body. It can cause complications in systems throughout your body. Possible complications may include:

  • blood clots and inflammation of blood vessels or vasculitis
  • inflammation of the heart, or pericarditis
  • heart attack
  • stroke
  • behavioral changes
  • memory changes
  • seizures
  • inflammation of lung tissue and the lining of the lung, or pleuritis
  • kidney inflammation
  • decreased kidney function
  • kidney failure

SLE can have serious negative effects on your body during pregnancy. It can lead to pregnancy complications and even miscarriage.

How can systemic lupus erythematosus affect pregnancy and the newborn?

Pregnant women with SLE are considered high-risk pregnancies and require close observation during pregnancy, delivery, and the postpartum period. Generally monitoring is done by a skilled rheumatologist together with an obstetrician expert. Fetal monitoring by the obstetrician during later pregnancy is very important as there is an increased risk of miscarriages and flares of SLE during this period.The presence of phospholipid antibodies, such as cardiolipin antibodies or lupus anticoagulant, in the blood is an indication of high risk for miscarriages. This is because cardiolipin antibodies are associated with a tendency toward blood clotting.
Women with SLE who have cardiolipin antibodies or lupus anticoagulant may need blood-thinning medications (aspirin with or without heparin) during pregnancy to prevent miscarriages. Continuation of blood-thinning medications throughout and after pregnancy for up to six to 12 weeks are advised for pregnant women who have had a previous blood-clotting event. The risk of clotting associated with pregnancy seems to diminish at this period of time. Plaquenil and Corticosteroids, such as prednisone,are also safely used to treat lupus during pregnancy. Sometimes, intravenous gamma globulin can be used for pregnant women with histories of premature miscarriage and those with low blood-clotting elements (platelets).
Lupus antibodies can be transferred from the mother to the fetus. This can result in lupus illness in the newborn termed as neonatal lupus. This includes the development of anemia, leucopenia, thrombocytopenia and skin rash. Problems can also develop in the electrical system of the baby's heart causing congenital heart block. A pacemaker for the baby's heart is needed in this case. The presence of antibodies referred to as anti-Ro (or anti-SSA) and anti-La (or anti-SSB) in newborns of mothers with SLE can cause this problem. As the mother's antibodies are slowly metabolized by the baby, neonatal lupus usually clears after 6 months of age.

Prevention of flares in SLE:

SLE is a chronic illness with involvement of numerous organ systems. Periodic increases in disease activity known as flares can usually be managed by varying medications.
People with systemic lupus should avoid sun exposure as ultraviolet light can worsen flares. Sunscreens and clothing covering should be done as much as possible when going out in sunlight. Abruptly stopping medications should be avoided, especially corticosteroids. If you are taking corticosteroids or immunosuppressive medications, you are always at increased risk of infections. Therefore, any unexpected fever should be reported to medical professionals and evaluated if you have SLE.
Regular contact and communication with the doctor for monitoring of symptoms, disease activities, and side effects of treatment is the key to successful management of SLE.