Lupus, an autoimmune disorder, is often known as “the great imitator” because it can resemble and mimic many other diseases and conditions. 

Lupus causes inflammation in the skin, joints and blood vessels and comes with symptoms that can include nearly anything from a skin rash to neurologic problems. This complex array of symptoms can make it hard for doctors to recognize lupus, meaning that people with lupus may suffer for years without a correct diagnosis. 

“Lupus patients are like snowflakes,” says Yale Medicine rheumatologist Fotios Koumpouras, MD. “No two people are quite alike, and neither are the ways in which they experience the disease.”

Yale Medicine has specialists who not only have expertise in diagnosing and treating lupus, but are also at the forefront of research into this complex medical condition. 

Lupus can affect many different organs and systems of the body, so its symptoms can vary greatly from person to person.

That being said, many people with lupus experience any or all of the following symptoms.

• Fatigue
• Joint pain
• Rash
• Leg swelling
• Chest discomfort
• Symptoms made worse with exposure to sunlight

The two main forms of lupus are:

• Cutaneous lupus: This is the most common form of lupus and causes inflammation in the skin only. It can lead to hair loss, pigment changes, rashes, and sores all over the body—especially on the face, neck and scalp. One common type of rash, which appears as raised, often red and sometimes scaly circles is called discoid rash. Another type, which appears on the cheeks and bridge of the nose, is called a butterfly rash.
• Systemic lupus: This type of lupus occurs in about 5 percent of cases, means that the disease is causing inflammation in internal organs and blood vessels, and external rashes. It can be mild or severe. Severe cases can lead to serious complications, including kidney, nervous system and cardiovascular damage.

Very rarely, women with lupus will give birth to babies who have lupus-like symptoms such as a skin rash and liver problems. This is known as neonatal lupus, although it is not a true form of the disease, and the symptoms usually disappear within a few weeks to months. Neonatal cardiac lupus is rare, but often causes permanent damage to the fetal heart.

Scientists aren’t sure what causes lupus, but they do know that there is a genetic component. It can run in families, but having a relative with lupus does not mean that you will have it, too. (Most women with lupus do not pass the disease on to their children. It’s even possible for one identical twin to have lupus, while the other does not.)

“There are many genes involved in whether a person develops lupus, so it’s very difficult to predict or screen for genetic abnormalities,” says Dr. Koumpouras.

A person usually develops lupus as a result of an environmental trigger. This can be some type of physical trauma—such as a motor vehicle accident—an infection, or even pregnancy. One illness that’s been linked to lupus is the Epstein-Barr virus.

More women than men develop lupus, and most people are diagnosed between 15 years old and 44. The disease is also more common in people of African-American, Hispanic and Asian descent.

Getting a lupus diagnosis can be difficult and frustrating. “It can sometimes take patients 10 years or more to get real answers to their symptoms,” says Dr. Koumpouras. “But going to a rheumatologist can make it a lot easier.”

Rheumatologists, doctors specializing in joint and muscle disorders, have experience diagnosing and treating lupus. Patients may be referred to them when they complain to their primary care doctor about joint pain. A blood test can confirm that an inflammatory condition is to blame.

People who see their dermatologists because of a suspicious skin rash may also be referred to rheumatologists. Lupus can also cause blood clots, and rheumatologists can be called in when an unexplained clot is discovered.

No one lab test can confirm if a person has lupus, and doctors should first rule out other conditions that could be causing symptoms. To be diagnosed with systemic lupus, a person should meet at least four of the following criteria:

• A butterfly rash or discoid rash
• Sensitivity to the sun
• Recurring ulcers in the mouth or nose
• Stiffness and pain in the joints
• Inflammation of the lungs or around the heart
• Seizures or other neurologic problems
• A kidney disorder, indicated by protein in the urine
• Anemia or abnormal blood cell counts
• An immunologic disorder, indicated by antibodies in the blood
• A positive result to an Antinuclear Antibodies (ANA) blood test

Lupus is usually treated with antimalarial medications. In people with malaria, these drugs kill the parasite that causes the disease. In people with lupus, they stop hyperactive immune cells from running out of control.

These drugs—such as Plaquenil (hydroxychloroquine), Aralen (chloroquine) and Atabrine (quinacrine)—can help to control lupus symptoms and prevent the disease from spreading to the kidneys and nervous system. These drugs are safe and side effects tend to be mild, and many lupus patients take them for the rest of their lives.

In addition to antimalarials, people with lupus may also take anti-inflammatory medicines, such as ibuprofen or naproxen, to relieve joint pain and stiffness.

Another drug, called Benlysta (belimumab), is a type of biologic that is administered intravenously. Some people with mild to moderate lupus may benefit from using Benlysta in addition to their other lupus medications.

In more serious cases, lupus patients may need to be treated with corticosteroids, chemotherapy or immunosuppressant drugs. But those medicines have more side effects and are not used unless antimalarial drugs have not worked or if lupus has affected vital organs.

Newly diagnosed patients at Yale Medicine have the option of going through a comprehensive lupus education program. In four sessions spread out over the course of a year, an advanced practice registered nurse teaches them about living with lupus, including how to avoid situations that might cause a flare-up, and how to recognize flares.

Patients also have access to doctors with extensive lupus experience.

“We have physicians who are experts in kidney lupus and pulmonary lupus, for example,” says Dr. Koumpouras. “The program allows patients to see sub-specialists who really know their specific disease.”

Yale Medicine is also involved in several clinical trials on potential new drugs to treat lupus. “If individuals are not getting better with standard treatment, then they have the option of exploring new therapies being studied here,” says Dr. Koumpouras.