South Boston Scleroderma and Lupus Health Study

1. South Boston Scleroderma and Lupus Health Study Suzanne K. Condon Associate Commissioner Director, Bureau of Environmental Health Massachusetts Department of Public Health January 2010

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

3. 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.

5. Community Assessment ProgramBureau 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

6. 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

7. 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

9. 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

10. 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

11. 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)

12. 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

13. 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

14. 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

15. 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

16. 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

17. 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

18. 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)

19. 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)

20. 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

21. ResultsScleroderma Prevalence and Incidence

22. ResultsLupus Prevalence and Incidence

23. ResultsExposure 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

24. ResultsExposure 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

25. ResultsExposure 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

26. ResultsOpportunities 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

27. ResultsResidential 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

28. 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

29. 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.

30. 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