Novel Approaches to Lupus
Lupus is a chronic autoimmune disease that causes inflammation, pain and damage to the skin, joints, brain and kidneys. Lupus is a complex disease; each patient has a different combination of symptoms and severity that can deeply affect quality of life. The disease has various forms, with systemic lupus erythematosus being the most common.
Estimates of lupus prevalence vary -- the American College of Rheumatology estimates it affects about 322,000 adults, while the Lupus Foundation of America claims the number is more than 1 million. About 16,000 new cases are diagnosed annually. Its cause is unknown, although it may stem from genetic and environmental factors, including infectious agents.
About half of all lupus patients suffer from nephritis, a serious inflammation of the kidneys and one of the leading causes of death among SLE patients. Other patients report "feeling foggy" and fatigued, while many have facial "butterfly" rashes (across their nose and cheeks), damage to skin elsewhere on their bodies or debilitating joint pain and stiffness. Complications involving the lungs and heart are also possible. Patients with SLE have a heart attack risk of up to 50 times higher than that in the general population.
As chief of the division of rheumatology at Albert Einstein College of Medicine and Montefiore Health System, I've been pleased to collaborate with colleagues and with researchers from NYU School of Medicine and Rockefeller University on projects that are exploring new technologies to define diseases and gain an understanding of disease pathways. With funding from the National Institutes of Health, nonprofit groups and pharmaceutical companies, we're working together to identify biological targets for new lupus therapies that would prove effective in stopping progression of the disease and preventing flare-ups.
[See: How to Be a Good Patient Wingman.]
The Trouble With Lupus
Rheumatologists who treat people with lupus typically prescribe a combination of medications aimed at tamping down the body's immune response and countering destructive inflammation in tissues and organs. However, only one new drug has been approved for treating lupus in the past 60 years; most of the drugs in use today are borrowed -- they're typically used in other conditions such as rheumatoid arthritis and hematological diseases. And since no two lupus patients are alike, physicians rely on their own experience, trial and error, and individual patient cases to determine the best treatment protocol.
Most lupus patients (about 90%) are women ages 15 to 45. The disease is two to three times more prevalent in African-American and Hispanic women than among Caucasian women. In fact, efforts are underway to recruit more minority lupus patients for clinical trials to adequately reflect the true demographic nature of the patient population.
Attacking the Attacker
As we investigate ways to fight lupus in the lab, we have a new tool at our disposal: single-cell RNA sequencing, or scRNA-seq. This allows us to peer into individual cells in a patient's diseased organs and identify genetic "signatures" within those cells that may be driving the disease.
In recent years, we've learned that interferon, an inflammatory chemical, activates certain genes within kidney cells of patients with lupus nephritis -- a process that can cause inflammation. We have also learned that scRNA-seq analyses of kidney cells can shed light on various types of lupus nephritis. And we may be able to use the technique to predict which patients might not respond to current immunosuppressant drugs in use. That gives us hope that we can someday tailor treatment to the specific form of a patient's lupus nephritis, and be better prepared to treat it aggressively as we thwart its potential progression to end-stage kidney disease.
Since we know lupus is not a single disease but consists of several different diseases that share symptoms, individualized treatments can lead to better outcomes in the short and long term.
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What Patients Can Do
For today's lupus patients, rheumatologists and other specialists treating these patients advise common-sense approaches to managing and living with lupus:
-- Stop smoking.
-- Avoid stress.
-- Reduce alcohol consumption.
-- Exercise regularly.
-- Take the medications your doctor prescribes.
Compliance can be challenging; immunosuppressant medications can have unpleasant side effects such as weight gain, irritability, fluid retention and acne, while increasing the risk of infection. Yet, patients who decide to skip medications or taper without a physician's guidance are at risk for severe flares and progression of the disease.
It's also important to keep regular appointments, which means office visits and blood draws every month or so for a patient with active lupus. Patients can also consider participating in clinical trials (Montefiore offers several) or by researching the Lupus Research Alliance or the Lupus Foundation of America.
[See: 10 Lessons From Empowered Patients.]
We also encourage patients to find support groups and learn effective strategies for living with lupus from others. And while we cannot know the prognosis of most patients, at this time, we are encouraged by new technologies and approaches that signal progress in helping those who are confronted by the daily challenges of the disease.
