Familial autoimmunity and polyautoimmunity in 60 Brazilian Midwest patients with systemic sclerosis

Horimoto, Alex Magno Coelho; Silveira, Ainda Freitas Do Carmo; Costa, Izaías Pereira da

doi:10.1016/j.rbre.2016.01.003

Cited by 5 publications

(3 citation statements)

References 39 publications

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“…Previous studies have documented that autoimmune diseases often co-aggregate within families. Several studies also found an increased risk of other autoimmune disease in family members of SSc patients [ 9 – 11 , 23 , 24 , 34 , 35 ]. A relatively large study investigating 4612 first-degree relatives of 1071 SSc probands found that the most prevalent autoimmune diseases among first-degree relatives of SSc patients were hypothyroidism, rheumatoid arthritis, hyperthyroidism, and SLE [ 34 ].…”

Section: Discussionmentioning

confidence: 99%

Familial risk of systemic sclerosis and co-aggregation of autoimmune diseases in affected families

Kuo

Luo

et al. 2016

Arthritis Res Ther

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BackgroundSystemic sclerosis (SSc) is a rare and devastating disease affecting skin and internal organs. Familial aggregation of SSc and co-aggregation with other autoimmune diseases is rarely reported.MethodsWe identified 23,658,577 beneficiaries registered with the National Health Insurance database in 2010, 1891 of whom had SSc. We identified 21,009,551 parent–child relationships and 17,168,340 full sibling pairs. The familial risks of SSc and other autoimmune diseases and familial transmission were estimated.ResultsThe prevalence of SSc in the general population was 0.008 %. There are 3801 individuals had at least one first-degree relative with SSc, among them 3 people had SSc which was equivalent to a prevalence of 0.08 %. The adjusted relative risk (RR) (95 % CI) for SSc was 81.21 (11.40–579.72) for siblings of SSc patients. The familial transmission (genetic plus shared environmental contribution to total phenotypic variance of SSc) was 0.72. However, 84.1 % of patients were expected to be sporadic cases. The RR (95 % CI) in first-degree relatives of SSc patients was 2.64 (1.46–4.75) for rheumatoid arthritis, 6.51 (4.05–10.46) for systemic lupus erythematosus, 2.77 (1.04–7.35) for Sjögren’s syndrome, 8.05 (2.03–31.92) for idiopathic inflammatory myositis, and 1.52 (1.15–2.01) for psoriasis.ConclusionsThe risks of SSc and other autoimmune diseases are increased in relatives of people with SSc, and family factors explain over two-thirds of the phenotypic variance of the disease. These findings may be useful in counselling families of patients with SSc and for further genetic studies.

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Section: Discussionmentioning

confidence: 99%

Familial risk of systemic sclerosis and co-aggregation of autoimmune diseases in affected families

Kuo

Luo

et al. 2016

Arthritis Res Ther

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“…Familial associations between two diseases are good indications of shared genetic susceptibility. Evidence of co‐occurrence of autoimmune diseases (ADs) within families of IIM (familial autoimmunity) is either from small‐scale family‐based studies of patients with IIM or other ADs [ 10 , 11 , 12 , 13 , 14 ] or from large‐scale family‐based studies based primarily on patients with other ADs [ 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 ]. Some of these studies observed higher frequencies of rheumatoid arthritis (RA) in families of IIM [ 10 ], or reported significant familial associations of RA, systemic lupus erythematosus (SLE), systemic sclerosis (SSc), type 1 diabetes mellitus (T1DM) and autoimmune thyroid diseases (AITD) with IIM [ 11 , 17 , 19 , 21 , 24 ] while other studies did not support familial associations for RA, Sjögren's syndrome (SS), SSc, multiple sclerosis (MS), inflammatory bowel diseases (IBD), coeliac disease (CeD) and myasthenia gravis (MG) with IIM [ 11 – 13 , 15 , 16 , 18 , 20 , 22 – 24 ].…”

Section: Introductionmentioning

confidence: 99%

Familial autoimmunity in patients with idiopathic inflammatory myopathies

et al. 2022

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Background Familial associations can be indicators of shared genetic susceptibility between two diseases. Previous data on familial autoimmunity in patients with idiopathic inflammatory myopathies (IIM) are scarce and inconsistent. Objectives To investigate which autoimmune diseases (ADs) may share genetic susceptibility with IIM, we examined the familial associations between IIM and different ADs. Methods In this Swedish population‐based family study, we assembled 7615 first‐degree relatives (FDRs) of 1620 patients with IIM and 37,309 relatives of 7797 matched individuals without IIM. Via register linkages, we ascertained rheumatoid arthritis, other rheumatic inflammatory diseases (RIDs), multiple sclerosis, inflammatory bowel diseases (IBD), type 1 diabetes mellitus, autoimmune thyroid diseases (AITD), coeliac disease (CeD) and myasthenia gravis among the FDRs. We estimated the familial association between IIM and each AD using conditional logistic regression and performed subgroup analyses by kinship. Results Patients with IIM had significantly higher odds of having ≥1 FDR affected by other RIDs (adjusted odds ratio [aOR] = 1.40, 95% confidence interval [CI] 1.11–1.78) and greater odds of having ≥2 FDRs affected by CeD (aOR = 3.57, 95% CI 1.28–9.92) compared to the individuals without IIM. In the analyses of any FDR pairs, we observed familial associations for other RIDs (aOR = 1.34, 95% CI 1.14–1.56), IBD (aOR = 1.20, 95% CI 1.02–1.41), AITD (aOR = 1.10, 95% CI 1.02–1.19) and CeD (aOR = 1.37, 95% CI 1.08–1.74) while associations for other ADs were not statistically significant. Conclusion The observed familial associations may suggest that IIM shares genetic susceptibility with various ADs, information that may be useful for clinical counselling and guiding future genetic studies of IIM.

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“…In a Brazilian study conducted on 60 consecutive patients with scleroderma, polyautoimmunity was found in 43.3% of patients and the most frequent AID observed was Hashimoto's thyroiditis (53.8%) followed by Sjögren's syndrome (38.5%), inflammatory muscle disease (11.5%), antiphospholipid syndrome (7.7%) and RA (3.8%). The majority of patients had only one concurrent AID (73.08%).…”

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confidence: 99%

Scleroderma overlap syndromes

Sharma

Kumar

2016

Int J of Rheum Dis

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Familial autoimmunity and polyautoimmunity in 60 Brazilian Midwest patients with systemic sclerosis

Abstract: From the high prevalence of coexisting autoimmune diseases found in SSc patients, we stress the importance of the concept of shared autoimmunity, in order to promote a continued vigilance and promptly diagnose other possible autoimmune disease in patients, or in their kin.

Cited by 5 publications

References 39 publications

Familial risk of systemic sclerosis and co-aggregation of autoimmune diseases in affected families

Familial risk of systemic sclerosis and co-aggregation of autoimmune diseases in affected families

Familial autoimmunity in patients with idiopathic inflammatory myopathies

Scleroderma overlap syndromes

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