Lupus (Systemic Lupus Erythematosus)

Systemic lupus erythematosus, also known as SLE, or simply lupus, is a disease that is characterized by periodic episodes or chronic inflammation which can affect joints, tendons, other connective tissues, and organs, including the heart, lungs, blood vessels, brain, kidneys and skin. When injured, the heart, lungs, kidneys and brain are the organs associated with the most long-term problems and serious complications. Lupus affects each individual differently and the effects of the illness range from mild to severe. Lupus can potentially be fatal.

The majority of people who have lupus are young women (late teens to 45). This may be due to the fact that estrogen (a female hormone) seems to be associated with SLE. Lupus affects people from all ethnicities including African Americans, Asian Americans, Latinos, Native Americans and Caucasian Americans although African Americans have the highest disease frequency. Lupus in children occurs most often at the age of 15 and older. According to the Arthritis Foundation, about 25,000 children and adolescents have lupus or a related disorder.

The disease is known to have periods of flare-ups and periods of remission (partial or complete lack of symptoms). Children with lupus are more likely to have kidney involvement and it is often more severe. The severity of the kidney involvement can alter the survival rate of patients with lupus. In some cases, kidney damage is so severe it leads to kidney failure. Children also have an increased rate of hematologic disease, neurologic disease and immunologic abnormalities.

What Causes Lupus?

Lupus is an autoimmune disorder, which means the body's immune system attacks its own healthy cells and tissues.

Lupus is considered to be a multifactorial condition. Multifactorial inheritance means that "many factors" are involved in causing a health problem. The factors are usually both genetic and environmental, where a combination of genes from both parents, in addition to unknown environmental factors, produce the trait or condition. Often one gender (either males or females) is affected more frequently than the other in multifactorial traits. Multifactorial traits do recur in families because they are partly caused by genes. Females are affected with lupus three to 10 times more often than males depending on the age at presentation.

A group of genes on chromosome 6 codes for the HLA antigens which play a major role in susceptibility and resistance to disease. Specific HLA antigens influence the development of many common disorders, many that are autoimmune related and are inherited as multifactorial traits. When a person has the specific HLA antigen type associated with the disease, they may have a genetic susceptibility to have the condition and be more apt to develop it. HLA antigens known to be associated with lupus are called DR2 and DR3. It is important to understand that a person without these antigens may also develop lupus so that HLA antigen testing is not diagnostic or accurate for prediction of the condition.

There are a variety of other genes that regulate the immune system that play a role in lupus disease susceptibility and there are ongoing research projects to study these genes. There is a new emphasis on studying children since their disease starts at an early age and is more severe and, therefore, may have more genetic abnormalities than other patients.

What Are the Symptoms of Lupus?

Lupus symptoms are usually chronic and relapsing. The following are the most common symptoms of lupus; however, each child may experience symptoms differently. Symptoms may include:

• Malar rash — a rash shaped like a butterfly that is usually found on the bridge of the nose and the cheeks.
• Discoid rash — a raised rash found on the head, arms, chest, or back.
• Fever
• Inflammation of the joints
• Sunlight sensitivity
• Hair loss
• Mouth ulcers
• Fluid around the lungs, heart, or other organs
• Kidney problems
• Low white blood cell or low platelet count
• Raynaud's phenomenon — a condition in which the blood vessels of the fingers and toes go into spasm when triggered by factors such as cold, stress or illness.
• Weight loss
• Nerve or brain dysfunction
• Anemia

Symptoms of lupus may resemble other medical conditions or problems. Always consult your child's physician for a diagnosis.

How Is Lupus Diagnosed?

Lupus is difficult to diagnose because of the vagueness of the symptoms each child might have. There is no single test that can diagnose lupus. A diagnosis is usually confirmed based on your child's medical history, reported symptoms, and a physical examination that may include:

• Blood test — To detect for certain antibodies that are present in most people with lupus.
• Blood and urine tests — To assess kidney function.
• Complement test – To measure the level of complement, a group of proteins in the blood that helps destroy foreign substances (low levels of complement in the blood are often associated with lupus).
• X-rays — A diagnostic test which uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film.
• Erythrocyte sedimentation rate (also called ESR or sed rate) — A measurement of how quickly red blood cells fall to the bottom of a test tube. When swelling and inflammation are present, the blood's proteins clump together and become heavier than normal. Thus, when measured, they fall and settle faster at the bottom of the test tube. Generally, the faster the blood cells fall, the more severe the inflammation.
• C-reactive protein (CRP) — Is a protein that is elevated when inflammation is found in the body. Although ESR and CRP reflect similar degrees of inflammation, sometimes one will be elevated when the other is not. This test may be repeated to test your response to medication.

Further, the American College of Rheumatology created a set of criteria to assist physicians in making a diagnosis of lupus. The child must have four of the eleven specific criteria to be diagnosed with lupus. It is important to remember that having some of the following symptoms does not mean that your child has lupus. The criteria include:

• Malar rash — A rash shaped like a butterfly that is usually found on the bridge of the nose and the cheeks.
• Discoid rash — A raised rash usually found on the head, arms, chest or back.
• Sunlight sensitivity
• Mouth ulcers
• Inflammation of the joints
• Heart or lung involvement
• Kidney problems
• Seizures or other neurological problems
• Positive blood tests
• Changes in normal blood values

How Is Lupus Treated?

There is no cure for lupus, however, our specialists can make treatment recommendations.

Specific treatment for lupus will be determined by your child's physician based on:

• Your child's overall health and medical history
• Extent of the condition
• Your child's tolerance for specific medications, procedures, and therapies
• Expectation for the course of the disease
• Specific organs that are affected
• Your opinion or preference

If lupus symptoms are mild, treatment may not be necessary, other than possibly nonsteroidal anti-inflammatory medications (NSAIDs) for joint pain. Other treatment may include:

• Hydroxychloroquine.
• Corticosteroids (to control inflammation).
• Immunosuppressive medication (to suppress the body's autoimmune system).
• Liberal use of sunscreen, decreased time outdoors between 10 a.m. and 4 p.m. and wearing hats and long sleeves when outdoors, as about one-third of persons with lupus have the tendency to develop a rash in the sun.
• Rest, including at least eight to ten hours of sleep at night; naps and breaks during the day.
• Stress reduction.
• Well-balanced diet.
• Immediate treatment of infections.

Children with lupus should not receive immunizations with live viruses, including chickenpox, MMR (measles, mumps, rubella), and oral polio vaccines. Consult your child's physician regarding all vaccines.

There are many new and ongoing research projects that involve the study of children with lupus. Please inquire with your physician if you are interested in participating.