San Diego, CA – Exagen Diagnostics, a rheumatology specialty laboratory with offices in Vista, CA, and Albuquerque, NM, is focused on helping patients and their doctors get speedier and more accurate diagnoses. Today, they produce the only validated lupus test on the market incorporating scientifically proven CB-CAPS technology, and it is having a big impact with both doctors and patients.
Mardella Engen, a retired campaign manager for the nonprofit Veterans of Foreign Wars service organization who now lives in San Diego, is especially grateful for the diagnostic advancement. For almost a year, she had been traveling from one doctor’s office to another, seeking answers for why she was always so tired, why she kept bruising so easily and why her back hurt. “I went to my primary doctor first,” she recalls, “and then I was sent to a cardiologist and then a nephrologist. They thought it might be osteoporosis then they thought arthritis. I even ended up in the emergency room a couple of times. No one could give me an answer. Meanwhile, I was experiencing recurring kidney problems and I kept fracturing my vertebrae and I was just so tired all the time.”
Eventually she was referred to rheumatologist Puja Chitkara, M.D., who administered Exagen’s Avise CTD rheumatology diagnostic test. “I found out right away that I had lupus,” Engen says. “It’s not an easy disease to live with but at least I knew what was wrong.”
Chitkara, who practices in Chula Vista, CA, says the innovative test has been “very helpful” in arriving at a specific diagnosis. “When Mrs. Engen first came to my office, she had by then received a possible diagnosis of MCTD, or mixed connective tissue disease. The Avise CTD test, which requires just one blood draw, showed that she actually had systemic lupus erythematosus, or SLE, the most severe form of the autoimmune disease. That enabled us to begin the correct treatment.”
Avise CTD (the name refers to connective tissue disease) is Exagen’s flagship test and uses the company’s proprietary CB-CAPS biomarker technology to help physicians distinguish between overlapping symptoms and aid them in the differential diagnosis of several systemic autoimmune rheumatic diseases, including the difficult-to-diagnose lupus. Dr. Thierry Dervieux, Chief Scientific Officer and Medical Laboratory Director at Exagen, says it took the company and collaborators over five years to validate the test. A study recently published in the on-line journal Lupus Science & Medicine proves its effectiveness. “The results showed that this test is highly specific for SLE,” he says, “approaching 100% in the differentiation of SLE versus primary fibromyalgia.”
The study results couldn’t come at a better time. May is “Lupus Awareness Month” and according to the Lupus Foundation of America, polls show that some two thirds of Americans are unfamiliar with the complex disease that affects approximately 5 million people around the world. “There is a need for greater awareness,” says Chitkara, “because the earlier the diagnosis, the earlier we can begin proper treatment.”
Lupus is an autoimmune disease in which the body begins attacking its own healthy tissues and organs. Patients with lupus suffer joint and muscle pain, unexplained fevers, hair loss and fatigue, among a number of other puzzling symptoms. A facial rash can appear across the nose and cheeks, though it does not occur in every case. Women are more likely to get it than men, and there’s no definitive cause, though researchers suspect genes may play a role. It’s often triggered by an infection, a particular drug, or even sunlight. There is no cure, though the symptoms, according to the Mayo Clinic’s website, can be managed.
Because the symptoms of lupus mimic other rheumatic diseases, it has historically been difficult to arrive at a correct diagnosis. A 2004 study in Archives of Internal Medicine, published by the American Medical Association, showed that as many as 51% of patients with suspected autoimmune or immune disorders are initially misdiagnosed, in part because of ambiguous laboratory test results. The authors of the study warned that “misdiagnosis of systemic autoimmune diseases can have serious consequences.”
Ron Rocca, president and CEO of Exagen, says the company’s groundbreaking diagnostic tools are simply a manifestation of the company’s motto: Patient Focused. Discovery Driven. “The proud men and women of Exagen,” he says, “built this organization to tackle a disorder that is recognized by healthcare providers as one of the most difficult to diagnose. We are committed to helping physicians identify and differentiate lupus from a long list of chameleon-like connective tissue diseases because we fully recognize that without a timely and accurate diagnosis, no pathway to patient care exists.”
Exagen Diagnostics, Inc. is a College of American Pathologists (CAP) and CLIA accredited rheumatology specialty laboratory that focuses on the significant unmet need for accurate and timely diagnosis, prognosis and monitoring of autoimmune connective tissue disease (CTD). Its groundbreaking solutions address the full continuum of care with tools designed and scientifically proven to help physicians deliver accurate, early diagnosis and optimized therapy. For more information, visit www.exagen.com.