Autoimmune diseases affect tens of millions of Americans, strike women at roughly four times the rate of men, and are on the rise, according to the Associated Press. Researchers are testing dozens of new therapies — including a cancer treatment that has shown early promise against lupus and other conditions — in what specialists describe as a pivotal moment for the field.
“This is probably the most exciting time that we’ve ever had to be in autoimmunity,” said Dr. Amit Saxena, a rheumatologist at NYU Langone Health.
More than 100 distinct autoimmune conditions have been identified, ranging from mild to life-threatening. They develop when the immune system mistakenly attacks the body’s own cells and tissues, and they can affect virtually any organ, including the brain. Women account for about 4 of 5 patients, though these diseases can strike anyone, adults or children alike.
New treatments aim to reset the immune system
Dozens of clinical trials are testing approaches designed to reprogram an overactive immune system rather than suppress it broadly. The furthest along is CAR-T therapy — best known as a cancer treatment — which has had promising early successes against lupus, myositis, and certain other autoimmune illnesses, the AP reported.
CAR-T therapy works by wiping out immune system B cells, both rogue and normal ones. The theory is that the B cells that grow back are healthier and less prone to attacking the body’s own tissue.
Scientists are also hunting ways to delay autoimmune disease onset before symptoms appear, spurred in part by a drug shown to buy time before people develop Type 1 diabetes.
Diagnosis can take years
Many autoimmune diseases begin with vague symptoms that come and go or mimic other illnesses, and many conditions share overlapping symptoms. Rheumatoid arthritis and Sjögren’s disease, for instance, both can damage major organs beyond the joints and salivary glands most commonly associated with them.
Diagnosis typically requires multiple tests, including blood tests to detect antibodies that mistakenly latch onto healthy tissue, and usually centers on symptoms while ruling out other causes. Depending on the disease, it can take years and visits to multiple doctors before one puts the clues together.
Efforts are underway to shorten that path. The National MS Society is educating doctors about newly updated guidelines to streamline diagnosis of multiple sclerosis. Scientists are also identifying a growing list of rogue antibodies responsible for the memory loss, seizures, and psychosis that can signal autoimmune encephalitis, helping doctors better recognize the condition.
Why women bear a disproportionate burden
Hormones are thought to play a role in women’s higher susceptibility. Additionally, females have two X chromosomes while males have one X and one Y, and some research suggests an abnormality in how female cells switch off the extra X chromosome may increase women’s vulnerability to autoimmune conditions.
Certain populations also face elevated risk. Lupus is more common in Black and Hispanic women. Northern Europeans have a higher risk of multiple sclerosis than other groups.
Men are not exempt. VEXAS syndrome, a severe autoimmune disease not discovered until 2020, mainly affects men over 50. In addition to typical autoimmune symptoms, it can cause blood clots, shortness of breath, and night sweats.
Viral triggers under investigation
Most autoimmune diseases are not caused by a single gene defect. Instead, a combination of genes affecting immune function can make people susceptible, and scientists say some environmental trigger — such as an infection, smoking, or pollutants — then sets the disease into motion.
Stanford University researchers found a new link between the Epstein-Barr virus and lupus. The virus infects nearly everyone by young adulthood and then lies dormant in the body, and the researchers found it hides in a small proportion of immune system B cells. In some people, the virus can nudge certain B cells into an inflammatory state that may spur an autoimmune chain reaction, the researchers found.
The research does not explain why about 95% of adults carry the Epstein-Barr virus yet only a small fraction develop lupus — but it adds a new clue into how infections can have lasting effects on the immune system.
A costly and imprecise field
According to investment research company Morningstar, the global market for autoimmune disease treatments is $100 billion a year, not counting doctor visits and lost work time. Treatment is lifelong and, while usually covered by insurance, can be expensive.
Until recently, options for many conditions were limited to high-dose steroids and broad immune-suppressing drugs, with side effects that include increased risk of infections and cancer. Newer options target specific molecules with somewhat less immune dampening. For many autoimmune diseases, however, treatment remains largely trial and error, with little to guide patient decisions.