Lupus and How to Diagnose it

Lupus is a difficult disease to diagnose because patients with lupus experience many different symptoms. These symptoms can develop slowly, and each symptom itself can have many other potential causes (e.g., thyroid disease and infections). Lupus symptoms include fatigue, Raynaud’s (fingers changing color in the cold), rashes, ulcers in the mouth, hair loss, chest pain that is worse when breathing, shortness of breath, and joint pain and/or swelling. Lupus can be mild or severe: one patient may experience fatigue, rash, and joint pain while another may develop kidney failure or a stroke. Determining which symptoms and lab tests add up to a diagnosis of lupus can be difficult.

Women of childbearing age (15-45) most commonly are affected, but lupus can affect both men and women of any age. Lupus is more common among Asians, African Americans and Hispanics than among Caucasians. Family members of lupus patients are at a higher risk of developing the disease.

Is there a lab test for lupus?

Lupus is an autoimmune disease and, therefore, is characterized by the production of antibodies against the self (as opposed to against, for example, bacteria) that can be measured by blood tests. For example, some patients come to a rheumatologist because they have a positive anti-nuclear antibody (ANA) lab test and are worried this means they have lupus. Unfortunately, there is no lab test that can definitively make a diagnosis of lupus. While every patient with lupus must have a positive ANA test, there are many other possible causes of a positive result, including chronic infections and other autoimmune diseases. Furthermore, up to 20% of healthy young women have a positive ANA.

An experienced rheumatologist can determine the correct diagnosis by carefully listening to your history, examining you, and reviewing and ordering lab tests. If your history and exam are suggestive of lupus, your rheumatologist will order further, more specific tests that can help make the diagnosis – but, in and of themselves, those tests are still insufficient to establish a definitive diagnosis (because they are neither perfectly specific for lupus nor do they identify every lupus case).

How is lupus treated?

Once the diagnosis of lupus is made, most patients are treated with a daily oral medicine called hydroxy- chloroquine (Plaquenil). This medicine can help with many aspects of lupus, including hand pain and skin rashes. It also can help prevent future flares of the disease, which can consist of fatigue, rashes, joint swelling, and internal organ involvement such as kidney disease. We have many treatment options for more severe lupus, which include prednisone, mycophenolate mofetil (CellCept), cyclophosphamide (Cytoxan), and the first drug approved specifically for lupus in decades, belimumab (Benlysta).

A Team Approach

While it is important to treat your initial symptoms and flares, we, as your rheumatologists, will monitor you regularly to see whether new aspects of lupus develop over time (such as kidney involvement) and will work closely with other specialists, such as nephrologists (kidney experts), to co-manage the particular symptoms of lupus that you may experience. We also counsel you on how to prevent flares (e.g., wearing sunscreen).

Maintaining a relationship with your primary care physician is also very important to make sure your cholesterol and blood pressure are being monitored and treated, if necessary, because early cardiovascular disease can be a complication of lupus.

Finally, when planning for pregnancy, we work closely with your obstetrician (OB) before, during and after your pregnancy. Lupus must be controlled for a prolonged period and medications that can be harmful to the developing baby are stopped, if possible. Lupus can flare during pregnancy. Certain forms of birth control may not be appropriate for patients with lupus, so your OB must know about your lupus diagnosis to counsel you appropriately.

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