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The environment and lupus: Is there a connection?
Jeff Watkins | News Center | July 23, 2013
|Dr. Diane Kamen, MUSC rheumatologist, explores the possible environmental links to the origins of lupus, called The Cruel Mystery by The Lupus Foundation of America.|
It is a disease with no known beginning, no definite path and no known cure. In fact, it may take years to even be properly diagnosed. It can strike virtually any organ in the body, from the skin on in.
It strikes more women than men, and more people of color than whites. Its effect on the human body can range from a mild skin rash to a fatal heart attack.
The age group most at risk – from 18 to 34 – is the group least aware of it, with 72 percent who have either never heard of it or know little about it, according to a recent survey.
The Lupus Foundation of America gave it a trademarked name – The Cruel Mystery.
It is lupus, which causes the body’s immune system to turn on itself and be unable to distinguish healthy tissue from foreign invaders.
Slowly, however, lupus is yielding clues as to its origins, and rheumatologist Diane Kamen, MD, MS, associate professor of medicine, is patiently putting the pieces together.
And patience will be vital to this endeavor.
“It can present so many different ways in so many different people,” she says. “It’s more common than people think. It’s just difficult to diagnose in many cases.”
Systemic Lupus Erythematosus (SLE) is the most common form of lupus, accounting for about 70 percent of all lupus cases. Other forms are cutaneous lupus, affecting only the skin; drug-induced lupus, caused by certain medications; and neonatal lupus, a rare form affecting infants whose mothers have certain autoantibodies.
The Lupus Foundation of America estimates that 1.5 million Americans have some form of the disease. Worldwide, the estimate is 5 million. Because of its perplexing nature, it is difficult to determine how many new cases there are annually, or, for that matter, how many deaths. Some of the more notable figures who have succumbed to lupus include former Philippine president Ferdinand Marcos, journalist Charles Kuralt and actor Ray Walston. Each of them lived a normal or close-to-normal life span, as do most lupus patients. But lupus has earned its “cruel” nickname. Underscoring its fatal breadth is the 2012 death of Sasha McHale, the daughter of NBA Hall of Famer Kevin McHale. Sasha, a college basketball player herself, was only 23.
And one’s station in life has no bearing on who contracts lupus and who doesn’t. Singer Toni Braxton has it and entertainer Lady Gaga has revealed a family history of lupus.
At MUSC, approximately 1,600 new lupus patients are annually diagnosed.
“Our goal is to keep people out of the hospital with as few complications as possible,” Kamen says. “That involves early diagnosis, trying to catch people and start treatment for lupus before the disease’s damage occurs.
“So we do a lot of outreach in the community to try to make high-risk communities like people living here aware of the signs and symptoms, things to look for to get screened,” she adds. “We do have good treatments, but we don’t have ideal treatments, and we certainly don’t have a cure, but that’s what we’re working on in the research realm.”
Kamen first developed an interest in lupus while a student at Northwestern University in Evanston, Ill. Her roommate had the disease, and Kamen’s first job following graduation was as a study coordinator in lupus research projects. After earning her medical degree from the University of Kansas School of Medicine, she became a resident and fellow at MUSC, working with her mentor Gary Gilkeson, MD, professor of medicine and microbiology/immunology, and a leading authority on lupus.
Connecting the dots in determining the origins of lupus is, at the very least, a daunting experience. Environmental factors play a major role in lupus, Kamen says, but there is a genetic component as well. “If you have a family history of autoimmune diseases, lupus is one of those autoimmune diseases, and they tend to run together in some families,” she says. “But we certainly see a lot of people with lupus who have no known family history.”
Where the genetics and the environment intersect is unknown, but slowly the picture may be becoming clear.
Much of Kamen’s focus involves African-Americans living along South Carolina’s Sea Islands, where the potential for lupus is higher. A common finding among lupus patients is vitamin D deficiency, which was especially notable among the Sea Islanders. Adding to this mystery is the fact that the people of the West African nation of Sierra Leone, the ancestral home of many of the Sea Islanders, possess normal vitamin D levels and a much lower incidence of lupus, according to Kamen.
Vitamin D is just one environmental factor under study. Exposure to persistent organic pollutants (POPS) and other environmental contaminants is also being closely studied.
Marine biologists have found dysfunctional immune systems and high levels of these pollutants in the bloodstreams of dolphins frequenting Charleston Harbor. “Many of these POPs are waste byproducts of the textile industry, and they used to be dumped fairly freely into our waters,” Kamen says. “They don’t biodegrade for many, many years.”
As these contaminants make their way into the food chain, she adds, they could become hazardous to humans. Water-borne toxins are not the only source of the study, however. Common chemicals in the home, such as fabric protectors and flame retardants used on clothing, carpets and furniture, are also being evaluated.
“We have a large research team with a wide range of expertise to bring everything together, trying to figure out what it is that is making certain people prone to autoimmune disease,” she says, adding that some of today’s household chemicals may have the potential to adversely affect immune systems. “Believe me, when I went into medicine, I knew our work would be interdisciplinary but never imagined that would include marine biologists and spatial statisticians.”
In the process, MUSC researchers have amassed a huge database that continues to expand as they gather information on even the most minute details of their subjects’ lives – exposures to chemicals at work or at home, proximity to any contaminated groundwater, air pollution, anything that may become a catalyst in the development of lupus. Kamen says there are “billions of data points” to consider.
Does she feel overwhelmed at times?
“I think I would if we weren’t getting some answers,” she explains. “Every time we look we find a little bit more, so rather than overwhelmed, maybe I would use the term ‘invigorated’ because it makes us just want to know more.”
This story is part of MUSC's Annual Report 2011-2012: The Greening of MUSC. To see the full version, visit this site.