Lupus Diagnosis: When to See a Doctor and What to Expect
Lupus is an autoimmune disease that causes inflammation in the body, leading to a variety of symptoms and complications, ranging from rash to kidney failure. Fortunately, early diagnosis and treatment of lupus can help patients manage their symptoms and avoid complications.
But diagnosing lupus can be very challenging, says Stacy Ardoin, MD, a rheumatologist at the Ohio State University Wexner Medical Center in Columbus. Symptoms can range from a mild rash and arthritis to kidney failure and seizures — “with a whole spectrum in between,” she says. Symptoms can also mimic other diseases, including infections and cancer.
Here’s what you need to know about the warning signs, when to see your doc, and tests you can expect that help your healthcare team make a lupus diagnosis.
Warning Signs of Lupus and When to See Your Doctor
Most of the time it’s a rheumatologist, a doctor who specializes in treating joint and muscle diseases, who will make a diagnosis of lupus. But usually it’s your primary care physician who will recommend that you see a specialist after you or your primary doctor has observed some of the common lupus warning signs.
Rashes that develop on the face and upper arms after exposure to sunlight, unexplained fevers, and painful, swollen, or stiff joints are all common lupus symptoms — and are symptoms you should tell your doctor about, says , the co-medical director at the Institute for Rheumatic and Autoimmune Diseases at Overlook Medical Center in Summit, New Jersey.
Another signal that you may need to undergo further testing for lupus is if a routine urine test (the one you’ll likely do as part of a primary care checkup) shows abnormalities, such as excess protein or red blood cells. Those individuals may need further assessment from a rheumatologist, says Dr. Kramer. The same can be said of unexplained low blood counts.
Additionally, a diagnosis of pleuritis (inflammation of the lining surrounding the lungs) or pericarditis (inflammation of the sac around the heart) may also require further investigation. Lupus can cause both conditions, says Kramer.
What to Expect When You See the Rheumatologist
If your doctor does refer you to a rheumatologist because he or she suspects lupus, patients can expect a thorough medical history and complete physical examination, as well as several laboratory tests, says Kramer. There’s no one test for lupus, so the rheumatologist will typically use a combination of test results and the signs and symptoms you report to make a diagnosis, adds Francis Luk, MD, an assistant professor of rheumatology and immunology at Wake Forest Baptist Medical Center in Winston-Salem, North Carolina. Symptoms are subjective and include pain levels and how much fatigue a person is experiencing. Signs are measurable and can include rash or swelling of the joints, he says.
Lab Tests the Doctor Might Run
For lab tests, a blood draw for a complete blood count, which measures levels of the red blood cells, white blood cells and platelets is standard, says Kramer. Notably, these blood cell levels may be low in people with lupus. (1)
A urinalysis, a test of the urine, is also standard for assessing kidney function, says Kramer. Bits of cells called cell blasts, and protein in the urine are signs that the kidneys are not doing their job of filtering waste from the blood properly. Inflammation of the kidneys, or lupus nephritis, is a complication of lupus, too; these are all things doctors are on the lookout for. (1)
Rheumatologists also look for certain antibodies, or proteins, in the serum in your blood to help diagnose lupus, says Kramer. In healthy people, antibodies fight off foreign invaders such as viruses, bacteria, and fungi. People with lupus produce autoantibodies, which are antibodies that attack the body's own cells and tissues. ( Laboratory tests check for the following:
- Antinuclear antibodies These proteins bind to the cell nucleus, damaging the cell or causing it to die. About 97 percent of people with lupus have these antibodies. (1)
- Anti-double-stranded DNA antibodies These proteins are a type of anti-nuclear antibody that bind to the DNA, or genetic material, inside the cell nucleus. About half of people with lupus have these antibodies. (3)
- Antibodies to Sm These antibodies target proteins called Sm in the cell nucleus. This antibody type is present in up to 40 percent of people with lupus. (3)
- Antiphospholipid antibodies These antibodies can cause narrowing of the blood vessels. About a third of people with lupus test positive for antiphospholipid antibodies. (3)
- Anti-Smith antibodies These antibodies act against RNA, or the messenger that carries instructions from DNA, in the cell nucleus. About 1 in 5 people with lupus have these antibodies. (4)
- Complement proteins These proteins boost the body’s immune response to infections and help protect it. The inflammation that lupus causes can lead to low complement levels, which is why your rheumatologist might run tests of your levels to help identify lupus. (3)
Other Medical Tests That Help Rheumatologists Diagnose Lupus
Other tests for lupus can depend on the symptoms patients are experiencing, says Stuart D. Kaplan, MD, the chief of rheumatology at South Nassau Communities Hospital in Oceanside, New York. For example, chest X-rays and echocardiograms may be necessary to indicate whether a patient has pleuritis or pericarditis if individuals have chest pain or shortness of breath (both symptoms indicate those conditions might be happening). If doctors suspect nephritis is present, the patient may need a kidney biopsy, he says.
Lupus Criteria: How the Rheumatologist Knows It's Lupus
You might test positive for one of the signs of lupus or you might notice one or more of the common symptoms. But how does the doctor determine that it’s lupus you should be treated for and not some other condition? Doctors may use criteria established by the American College of Rheumatology (ACR) to help diagnose lupus, or a more recently established system called Systemic Lupus International Collaborating Clinics Classification Criteria for Systemic Lupus Erythematosus (SLICC).
The ACR criteria, most recently was updated in 1997. Patients are diagnosed with lupus when they have 4 of the 11 total signs or symptoms, says Dr. Luk.
Those signs and symptoms include: (5)
- A malar or "butterfly" rash on the cheeks and across the bridge of the nose
- Discoid lupus rash, which consists of round lesions that are raised, red, and scaly but do not itch
- Photosensitive rash, or a rash that appears or worsens after being in the sun or ultraviolet light
- Mouth or nose sores
- Joint pain, swelling, and warmth
- Pleuritis or pericarditis
- Neurological disorders, including seizures or psychoses
- Blood disorders, such as low red blood cells, low white blood cells, or low platelets
- A positive antinuclear antibody test
- Other positive antibody tests, providing evidence of an autoimmune disorder
The newer system, SLICC, published in the August 2012 issue of Arthritis & Rheumatology (6), may also be a valuable tool, says Luk. The SLICC criteria include 17 signs and symptoms of lupus that doctors assess, including clinical findings from the patient’s medical history and physical exam, as well as laboratory tests, he explains. Notably, the criteria address a broader range of neurological disorders than the ACR.
The SLICC criteria also state that a patient can be diagnosed with lupus when he or she has a symptom based on a clinical finding or exam, along with a positive laboratory finding, such as an antibody positive test, says Luk. Patients may also be diagnosed if a kidney biopsy shows nephritis consistent with lupus. “Sometimes we do see patients who don’t have other symptoms at all but do have nephritis,” he says.
The SLICC criteria perform better than the older ACR system but are more complicated, notes Kaplan. And it should be noted that neither system is 100 percent definitive for indicating when someone has lupus and when they don’t, adds Dr. Ardoin.
Video: Living with Lupus
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