Diagnosing Lupus in Children

Lupus is a chronic autoimmune disease in which the immune system produces autoantibodies—proteins that attack healthy tissues in the body instead of viruses and bacteria.

Up to 20 percent of people with lupus are diagnosed before age 18, including some who are diagnosed in early childhood. Pediatric rheumatologists at Hassenfeld Children’s Hospital at NYU Langone are skilled at diagnosing lupus in children of any age.

The cause of lupus is unknown, but having a family history of the condition can increase a child’s risk of developing it. Lupus is more common in girls than in boys. When lupus develops during childhood, it is often more severe than when it begins in adulthood. Lupus may also be more severe in people of African, Asian, and Hispanic descent.

In rare instances, a newborn may temporarily have symptoms that mimic lupus after exposure to antibodies that cross the placenta—a temporary organ that carries oxygen and nutrients from a mother to a baby in the womb. This form of lupus, called neonatal lupus, usually goes away by the time a baby is six to nine months old, and does not progress to systemic lupus.

Symptoms of Childhood Lupus

Lupus can affect any area and organ in the body, including the joints, skin, lungs, heart, kidneys, and brain. No two children with lupus have exactly the same symptoms.

Often, the first noticeable symptom is a butterfly-shaped rash across the cheeks and nose, called a malar rash, or round, scaly patches on the face, arms, scalp, or ears, known as a discoid rash. Other possible symptoms include joint pain, extreme fatigue, hair loss, and mouth sores.

Lupus can flare up at any time, especially after a child experiences stress, has an infection, or spends too much time in the sun.

The condition can be difficult to diagnose because many of its symptoms are seen in other inflammatory conditions that affect children, including juvenile arthritis and Crohn’s disease, and illnesses such as mononucleosis, commonly known as “mono,” which is caused by infection with the Epstein–Barr virus.

Without treatment, lupus can lead to serious complications, such as kidney inflammation, hypertension, fluid around the heart or lungs, depression, and seizures.

Our specialists are attuned to the various ways lupus can appear in children. Our doctors can make a diagnosis using a medical history, physical exam, and blood tests.

Physical Exam

While taking a medical history, the doctor asks your child about symptoms, such as fatigue, joint pain, or rashes. He or she may examine your child’s skin for signs of a rash and the joints for signs of inflammation. The doctor may measure your child’s blood pressure because hypertension can indicate kidney problems.

Blood Tests

Blood test results can reveal whether your child has certain antibodies found in people with lupus, including:

• Antinuclear antibody, also called ANA, the most common type of autoantibody. Almost all children with lupus have a positive ANA test result, but this antibody can also be found in people with other autoimmune diseases, as well as in healthy children. A positive ANA test result in a healthy child is considered a false positive result.
• Anti-Smith antibody, a more specific autoantibody that’s rarely found in people who do not have lupus.
• Anti-dsDNA antibodies, which target double-stranded DNA—the genetic material inside our cells—and are found in most people with lupus. Levels of anti-dsDNA antibodies usually increase in people with active symptoms and may signify that a child is at risk of kidney inflammation.
• Antiphospholipid antibodies, which may be associated with blood clots. These antibodies are found in up to 60 percent of people with lupus.

Doctors may use additional blood tests to look for substances such as C-reactive protein, which indicates the presence of inflammation in the body. Other blood tests can be used to evaluate kidney and liver function or determine whether your child has a condition such as anemia—a low level of oxygen-rich red blood cells—which can be determined with a complete blood count, or CBC blood test.

Urine Tests

Your child’s physician may perform urine tests to determine how well the kidneys are working. Normally, the kidneys remove waste products and excess fluid through urine. Urine that contains protein or blood cells, however, could indicate kidney disease, a common complication of lupus.

Blood and urine test results are combined with information from your child’s physical exam and symptom history to help the doctor diagnose lupus and develop a treatment plan.

If your child’s blood test results reveal the presence of antibodies commonly found in people with lupus but do not show other signs of the disease, our doctors may follow up with a physical exam every few months to watch for symptoms or other signs that the condition has progressed.

Imaging Tests

Imaging tests are not typically a part of the initial process of diagnosing lupus in children. But if your child’s other test results and symptoms strongly suggest that the condition is affecting the kidneys, muscles, bones, lungs, or heart, our doctors may recommend imaging tests, such as X-rays, MRI scans, echocardiography, or ultrasound, to view the organs and ensure that your child receives the appropriate treatment.