Familial Risk of Systemic Sclerosis and Co-Aggregation of Autoimmune Diseases in Affected Families: A Nationwide Population Study

Chang-Fu Kuo¹, Matthew J. Grainge², Ana Valdes³, Shue-Fen Luo⁴, Lai-Chu See⁵, Kuang-Hui Yu⁶, Weiya Zhang⁷ and Michael Doherty⁸, ¹Division of Rheumatoplogy, Allergy and Immunology, Chang Gung Memorial Hospital, Tayuan, Taiwan, ²Division of Epidemiology and Public Health, School of Community Health Sciences, University of Nottingham, Nottingham, United Kingdom, ³Division of Rheumatology, Orthopaedics and Dermatology, University of Nottingham, Nottingham, United Kingdom, ⁴Rheumatology, Chang Gung Memorial Hosp, Taipei, Taiwan, ⁵Biostatistics Core Laboratory, Molecular Medicine Research Center, Chang Gung University, Taoyuan, Taiwan, ⁶Division of Rheumatoplogy, Allergy and Immunology, Chang Gung Memoria Hospital, Tayuan, Taiwan, ⁷Academic Rheumatology, School of Clinical Sciences, University of Nottingham, Nottingham, United Kingdom, ⁸Academic Rheumatology, City Hospital, Nottingham, United Kingdom

Meeting: 2015 ACR/ARHP Annual Meeting

Date of first publication: September 29, 2015

Keywords: Systemic sclerosis

Session Information

Date: Sunday, November 8, 2015

Title: Systemic Sclerosis, Fibrosing Syndromes and Raynaud's - Clinical Aspects and Therapeutics Poster I

Session Type: ACR Poster Session A

Session Time: 9:00AM-11:00AM

Background/Purpose:

To investigate familial aggregation of systemic sclerosis and the relative risks (RRs) of other autoimmune disease in relatives of affected patients.

Methods:

We identified 23,658,577 beneficiaries registered with the National Health Insurance in 2010, of whom 1,891 individuals had systemic sclerosis. We identified 21,009,551 parent-child relationships and 17,168,340 full sibling pairs. The familial risks of systemic sclerosis, rheumatoid arthritis and systemic lupus erythematosus, familial transmission and expected proportion of sporadic cases were estimated.

Results:

The prevalence of systemic sclerosis was 7.99 (95% confidence interval [CI], 7.64–8.36) per 100,000 people in the general population of Taiwan in 2010; in comparison, the prevalence was 387.60 (95% CI, 46.97–1393.06) per 100,000 people. The adjusted RR (95% CI) for systemic sclerosis was 81.21 (11.40–579.72) for siblings of systemic sclerosis patients. The familial transmission (heritability plus shared environmental contribution) was 0.72; despite this, 84.1% of patients was expected to be sporadic cases. The RR (95% CI) in first-degree relatives of systemic sclerosis patients was 7.43 (2.42–22.86) for rheumatoid arthritis; 9.82 (3.76–25.70) for systemic lupus erythematosus.

Conclusion:

The risk of systemic sclerosis and other autoimmune diseases is increased in relatives of people with systemic sclerosis and family factors explain over two-thirds the phenotypic variance of the disease. Despite this, the majority of patients were expected to be sporadic cases.

Disclosure: C. F. Kuo, None; M. J. Grainge, None; A. Valdes, None; S. F. Luo, None; L. C. See, None; K. H. Yu, None; W. Zhang, None; M. Doherty, None.

To cite this abstract in AMA style:

Kuo CF, Grainge MJ, Valdes A, Luo SF, See LC, Yu KH, Zhang W, Doherty M. Familial Risk of Systemic Sclerosis and Co-Aggregation of Autoimmune Diseases in Affected Families: A Nationwide Population Study [abstract]. Arthritis Rheumatol. 2015; 67 (suppl 10). https://acrabstracts.org/abstract/familial-risk-of-systemic-sclerosis-and-co-aggregation-of-autoimmune-diseases-in-affected-families-a-nationwide-population-study/. Accessed .

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