South Boston Scleroderma and Lupus Health Study
Suzanne K. Condon
Associate Commissioner
Director, Bureau of Environmental Health
Massachusetts Department of Public Health

Overview
▪ Introduction
•	Reasons for the Study
•	BEH/CAP
•	Community Advisory Committee (CAC)
▪ Study Design
▪ Results
•	Exposure Assessment
•	Spatial Analysis
•	Prevalence/Incidence
▪ Summary
▪ Recommendations

Background
	
	In 1998, residents of South Boston and then State Senator (now Congressman) Stephen Lynch contacted the MDPH with concerns of a suspected cluster of scleroderma among women who grew up in South Boston.

Community Assessment Program
Bureau of Environmental Health, Massachusetts Department of Public Health
•	Triage phone calls regarding environmental and disease concerns
•	Evaluate frequency and patterns of disease in the population
•	Respond to concerns about unusual patterns of disease
•	Investigate possible associations between environmental exposures and disease
Key Stakeholders and Collaborators
•	South Boston Community Advisory Committee (CAC)
•	State Senator (now Congressman) Stephen Lynch
•	Representative (now State Senator) Jack Hart
•	Massachusetts Department of Public Health (MDPH)
•	Co-investigators
•	Drs. Felson, Korn, and Desai at Boston Medical Center (Dr. Korn passed away in 2005)
•	Drs. Kalish and Massarotti at Tufts Medical Center
•	Area hospitals and rheumatologists
•	South Boston Community Health Center (SBCHC)
•	Dr. Harvey Bidwell
•	Ms. Nina Lev
Study Timeline
•	Fall 1998 MDPH first contacted by South Boston residents and Congressman Lynch

•	1999 Began development of study protocol and sought IRB approval

•	2000-2003 Began outreach, collaboration with co-investigators, recruiting cases and controls, and confirming diagnoses through medical exams

•	2004 Conducted personal interviews and began data management

•	2005-2007 Conducted data analyses of questionnaire data and performed exposure assessment (air dispersion modeling, hazardous waste site evaluations) and spatial and temporal cluster analyses

•	2008 External peer review

•	2009 Response to peer review comments and preparation of final report

What is Scleroderma (SSc)?
•	Rare, chronic connective tissue disease

•	Characterized by hardening of the skin and internal organs

•	Mainly affects women during child-bearing years and early menopausal years (peak incidence is between 45 to 54 years of age)

•	Recent studies suggest African American women may be more likely to develop SSc
What is Lupus (SLE)?
•	A rare, chronic inflammatory disease

•	Characterized by inflammation of various parts of the body (skin, joints, kidneys, blood vessels)

•	90% of patients are women and usual age at onset is between 15 and 40

•	African American women are 3-4 times more likely to develop lupus than white women

What do we know about SSc and SLE?
•	More common in women
•	Genetic predisposition + environmental trigger
•	Genetics, hormones, environmental exposures such as silica dust and organic solvents thought to be involved
•	More research is needed to identify cause(s)

Study Approach
•	Statistical challenges when conducting a study of a disease with relatively low prevalence (like scleroderma)
•	Similarities in some factors associated with both scleroderma and lupus
•	Combining SSc and SLE in one investigation might increase the chances of determining environmental contributions in South Boston
Study Aims
•	To identify current/former residents of South Boston with SSc or SLE in order to calculate more accurate prevalence/incidence rates for South Boston
•	To identify possible contributing factors (environmental and non-environmental) among individuals with SSc and SLE
Outreach Efforts
•	Creation of the CAC
•	Contact with local hospitals and rheumatologists
•	Fliers to community organizations and centers, churches, schools, local businesses and media outlets 
•	Community fundraisers and events including local charity walks and road races
•	Community talk show for cable television with CAC members and researchers
•	Features on ABC Nightline and in Self Magazine 
Study Design
•	Retrospective case-control study
•	People with SSc and SLE identified through area hospitals, rheumatologists, death record searches and self-report
•	Controls recruited through residential lists
•	“Matched” to cases by gender, age, and residential history

Study Design
•	Medical examination to confirm diagnosis
•	Standardized questionnaire:
•	Demographics
•	Residential, occupational, family, medical, and reproductive histories
•	Questions regarding hobbies and recreational activities in South Boston

Information Gathered Through Personal Interviews
•	Medical history
•	Diseases such as cancer, Parkinson’s disease, rheumatoid arthritis, hypertension, etc.
•	Medications
•	Reproductive history
•	Number and timing of children
•	Timing of menarche and menopause
•	Hormone use
•	Lifestyle factors
•	Smoking, alcohol use
•	Demographics
•	Race/ethnicity
•	Socio-economic status
•	Education
Information Gathered Through Personal Interviews
•	Complete residential history to determine likelihood of individuals diagnosed with SSc/SLE sharing common exposure opportunities in South Boston
•	Complete occupational history
•	Working in dry cleaning, textiles, film developing, etc.
•	Contact with specific chemicals such as benzene, diesel oil, silica, etc.
•	Hobbies
•	Pottery, stone sculpting, automotive repair, etc. (due to silica/solvent exposure concerns)
•	Environmental factors
•	Proximity to Coastal Oil, Boston Edison, other hazardous waste sites to determine possible exposures to solvents
•	MaDEP provided information on air emissions related to BECo
•	Swimming at various beaches (Carson, Pleasure Bay, Castle Island, L Street, Reserve Channel)
Study Results:
Participation/Response Rate
•	45 individuals identified with a confirmed diagnosis of scleroderma or lupus
•	41 agreed to participate
•	830 individuals selected as potential controls
•	219 agreed to participate
•	154 met study eligibility criteria
•	Total study population = 195
•	Individuals with SSc or SLE = 41
•	Controls = 154
•	Overall participation rate = 22% (195 study participants/875 eligible individuals)
Prevalence versus Incidence
•	Prevalence = the number of individuals with a disease at a specified point in time

•	Incidence = the number of new diagnoses of a disease reported during a defined period of time
Results
Scleroderma Prevalence and Incidence
Results
Lupus Prevalence and Incidence
Results
Exposure Assessment
•	Participants with a family history of specific rheumatic diseases1, particularly parents, had a 2-fold increase in SSc/SLE risk
•	Findings consistent with previous reports of a positive family history

•	1 Includes Rheumatoid Arthritis, Raynaud’s Disease, Lupus, Scleroderma, Mixed Connective Tissue Disease, or Thyroid Disease 

Results
Exposure Assessment
•	Previous participant diagnosis of rheumatoid arthritis (RA) resulted in 4-fold increase in SSc/SLE risk
However,
•	Inflammatory arthritis is one of 11 ACR criteria for diagnosis of SLE and possibly a pre-cursor/early stage of SSc
•	More common osteoarthritis often mistaken for RA
Results
Exposure Assessment
•	Hobby-related possible silica exposures showed association with increased risk of SSc/SLE
•	However,
•	Detailed analysis of hobby-related exposures to silica (including types of silica exposures and frequency of exposure) and/or solvents did not show increased risk associated with SSc or SLE
Results
Opportunities for environmental exposure
•	Detailed analyses showed no increased risk associated with swimming at Carson Beach, Pleasure Bay, Castle Island, L St. Beach, or Reserve Channel
•	No increased risk seen in relation to modeled emissions from BECo plant
Results
Residential clustering/opportunities for environmental exposure
•	No indication of any unusual geographic or time patterns of residential addresses between 1950 and 2000
•	Case distribution followed population density patterns
•	No increased risk seen in relation to residential proximity to hazardous waste sites including Coastal Oil

Study Limitations
•	Low participation rate of 22% (primarily due to control participation)
•	Small sample size
•	Limited statistical power
•	Imprecise estimates
•	Exposure assessment limited by historical nature of the study

Summary
•	The prevalence of scleroderma in South Boston was higher than expected.
•	A family history of specific rheumatic diseases was the factor most statistically significantly associated with increased risk of scleroderma and lupus.
•	A previous diagnosis of rheumatoid arthritis was associated with scleroderma and lupus among current/ former South Boston residents.
•	The study did not find any geographic or temporal clustering of cases in South Boston.
•	No associations were found linking the risk of developing SSc or SLE with potential environmental exposures either as a result of living in South Boston or due to hobbies or recreational activities.
Recommendations
•	Research is currently underway involving clinical registries that may better evaluate the nature of gene-environment interactions and characterize the role of environmental factors 
•	No further MDPH study in South Boston is planned, however, Boston Medical Center recently became a recruitment site for the NIH national scleroderma registry
•	Registration is open to all individuals who meet eligibility criteria for the registry