Lupus is a complex and varied autoimmune disease that can affect any organ system. It’s a chronic disorder with no cure. However, there are many treatments available. Some of the more common organ systems affected are the skin, joints and kidneys. While lupus can appear at any age, it is more common in women in their 20s to 40s. About 90% of patients with lupus are women. 

A recent study published in the journal Nature, identified an imbalance of T cells, which play a key role in the body’s immune response, as a possible root cause of lupus. 

“This study found the imbalance of T-cells probably linked to type one interferon, which we know is high in many lupus patients,” says rheumatologist Jennifer Medlin, MD of the study.  “It was a small study using blood samples from 19 lupus patients. So, we’ll need more research to determine if this is truly a root cause common among all patients. I think it's going to be more complex than that.”

According to Dr. Medlin, another theory is that people with lupus have a poor time clearing out apoptotic or dead cells. This can lead to the formation of self-antibodies against the nucleus. So, this may be another root cause of lupus in some patients.

Risk factors for lupus

Risk factors for lupus are a combination of genetic and environmental factors. Certain genes increase the risk of developing different autoimmune diseases, including lupus. Viruses and smoking are known environmental triggers for lupus.  

“When a person develops lupus, it’s likely a combination of being genetically susceptible and then something triggering or turning on that gene,” says Dr. Medlin. “Also, because women tend to have a higher risk of developing lupus, it’s possible that hormones play a role.” 

Symptoms of lupus

Lupus patients can have vastly different symptoms. This is different than many other autoimmune diseases like rheumatoid arthritis. With lupus, some patients present with joint pain, while others may have skin rashes or mouth sores. 

Lupus can also affect a person’s kidneys. Dr. Medlin sees kidney involvement in at least 50% of patients. Lupus patients can develop fluid around the heart and lungs. It can also affect the central nervous system, causing psychosis or unexplained seizures. 

“Patients often have a combination of organs involved at one time, but each case can be vastly different,” says Dr. Medlin. “I've had patients who only have kidney involvement, others who only have skin and joints affected, and still others will have multiple organ involvement.” 

How is lupus diagnosed?

Diagnosis often begins when a patient has symptoms and visits their primary care provider. They may have fatigue, joint pain or rashes, which can be symptoms of many different conditions. A patient may see a dermatologist for a skin rash that's suggestive of lupus. In any case, the patient will undergo specific lab tests, and if lupus is suspected, be referred to Rheumatology.

Because of the varying symptoms and organ systems affected, lupus can be difficult to diagnose. Some patients will only have skin lupus or drug-induced lupus. In patients with systemic disease, blood tests will detect an antinuclear antibody, or ANA. However, the presence of ANA isn’t specific to lupus. It can be seen in other diseases and up to 20% of the healthy population. 

There are a few specific lab tests for lupus. One detects the double-strain DNA associated with lupus that affects the kidneys. There’s also an anti-Smith antibody test that's the most specific for lupus. 

“If a patient has symptoms suggestive of lupus, such as skin rashes, premature arthritis or low blood counts, and lab tests detect a combination of these antibodies, then it’s easier to diagnose lupus,” says Dr. Medlin.

If a patient has kidney involvement, they can have a urine test to look for persistent blood or protein. Doctors may also do a biopsy of kidney or skin tissue to help make a diagnosis. 

Treatment for lupus

The cornerstone treatment for patients with systemic lupus is hydroxychloroquine. Lupus patients will take hydroxychloroquine long-term because it helps prevent progression and flares. It also protects women during pregnancy, reducing the risk of complications like miscarriages, preeclampsia and preterm delivery. 

If a patient continues to have symptoms, particularly in their joints or skin, they may be given methotrexate. Benlysta and anifrolumab are two biologics that can help treat joints and skin. 

“We know that up to 20% of lupus patients with kidney involvement may end up needing dialysis or a transplant,” says Dr. Medlin. “So, if a patient has kidney involvement, we tend to reach for more potent medication to help prevent those complications.”

Lupus is a disease that can change over time. If the disease calms down, a person may be able to stop some medications. Patients should be closely monitored by a rheumatologist so that their medications can be adjusted as needed.  

The future for lupus patients

“I know it can be challenging when someone is diagnosed with lupus. It can be scary to learn you have a chronic disease that's not curable,” says Dr. Medlin. “But the good news is that this is an exciting time for lupus research. We have several new medications that have shown positive results in phase 1 and phase 2 trials. We may never find a cure for lupus, but there are many more treatment options than in the past.”