S. Boston cluster may be genetic, not environmental, but true cause is elusive

Elizabeth Lombard is among the residents of South Boston who has scleroderma, the autoimmune disease that hardens muscles and internal organs. Elizabeth Lombard is among the residents of South Boston who has scleroderma, the autoimmune disease that hardens muscles and internal organs. (Suzanne Kreiter/ Globe Staff)

By Meghan Irons
Globe Staff / January 25, 2010

Elizabeth Lombard’s right hand is stiff and wooden, unable to flex or move.

“It won’t bend,’’ she said, displaying the tightened skin that is pulling back her fingers into a crooked and clawlike form.

Lombard has scleroderma, a rare, life-threatening autoimmune disease that hardens muscles and internal organs, and causes the body’s immune system to attack itself.

The disease, which has no cure, has long confounded South Boston, where a cluster of longtime residents from the City Point section – most of them middle-aged women – were falling ill with it. The residents, who lived near a power plant and hazardous waste sites, believed they were victims of their environment.

Their case gained national media attention and sparked an 11-year investigation by the Massachusetts Department of Public Health. In their findings, released earlier this month, state researchers acknowledged “higher than expected cases’’ of scleroderma in South Boston, a neighborhood of roughly 30,000 people.

But it determined that genetics, not the environment, played a significant role.

“It’s not necessarily that the community they were living in was producing this disease,’’ said Robert Simms, the chief of rheumatology at Boston Medical Center and a researcher in the study. “When you look at the data, it does not support that.’’

Researchers also said low participation in the $1.75 million study may have limited their ability to find an environmental link.

Without a large enough sample, Simms said, it was difficult for scientists to gather reliable estimates on scleroderma’s link to the residents’ proximity to toxic wastes and other pollutants.

“Those are the things the South Boston study tried to do and came up short,’’ said Simms, who added that the study now opens the door for much larger, national research.

The study found that people with a family history of specific autoimmune-rheumatic diseases, such as rheumatoid arthritis, Raynaud’s disease, lupus, and thyroid disease, were more likely to develop scleroderma.

For the women afflicted with the disfiguring disease, the findings have come as a bitter disappointment.

“I thought that if we had an answer then we could fix it,’’ said Lombard, whose eyebrows have fallen out and whose face is tight and covered with red blotches. “It would help us make sense of why so many of my neighbors have this horrible disease.’’

Ann Dilorati Macaulay, another woman with scleroderma, recalled being slick with oil after swimming in the bay and seeing soot raining down from the oil-burning former Boston Edison power plant, blackening residents’ clothing and backyard laundry. The plant now uses natural gas.

“I still believe that there is something in the environment that is causing this,’’ Macaulay said. “I do think there is a genetic component, but when we are exposed to it, it triggers the disease.’

read full article