Recurrence of axial spondyloarthritis among first-degree relatives in a prospective 35-year-follow-up family study.

van der Linden, Sjef M; Khan, Muhammad Asim; Li, Zhixiu; Baumberger, Heinz; Zandwijk, Hermine van; Khan, Mohammad Kazim; Villiger, Peter M; Brown, Matthew A (2022). Recurrence of axial spondyloarthritis among first-degree relatives in a prospective 35-year-follow-up family study. RMD open, 8(2) BMJ Publishing Group 10.1136/rmdopen-2022-002208

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OBJECTIVE

The lifetime recurrence rate (RR) of axial spondyloarthritis (axSpA) among first-degree relatives (FDR) and the effect of proband's gender, HLA-B27 and radiographic status is unclear. Our 35-year-follow-up family study has enabled these issues to be addressed.

METHODS

In 1985, 363 ankylosing spondylitis (AS) probands (members of the Swiss AS Patient Society) and 806 FDR recruited into the study, completed questionnaires regarding axSpA manifestations, underwent a physical examination and most also underwent pelvic radiography and HLA-B27 typing. At follow-up in 2018-2019, of the former participants whose current addresses could be retrieved, 162 had died and 485 (125 patients with AS plus 360 FDR) completed a postal questionnaire.

RESULTS

At follow-up, 48 of 177 HLA-B27(+) FDR had developed axSpA, an RR of 27.1% (95% CI 20.6% to 33.7%). 27/148 (18.2%) children of AS probands (modified New York (mNY) criteria) were affected versus 2/50 (4.0%) children of non-radiographic axSpA probands (p=0.0138, OR=5.36; 95% CI 1.23 to 23.40). Children of female probands were more often affected (12/22; 54.5%) than of male probands (15/78; 19.2%) (p=0.0003; OR=4.89; 95% CI 1.96 to 12.23). This increased risk applies equally to sons and daughters.

CONCLUSION

The lifetime RR of axSpA for HLA-B27(+) FDR is substantial (27.1%), and disease severity (as defined by radiographic sacroiliitis by the mNY criteria) is an additional risk factor. Affected mothers pass on the disease significantly more often to their offspring than do affected fathers. These findings may lead to better assessment of lifetime risk for axSpA in the offspring. Moreover, investigation of this gender effect may uncover additional putative disease susceptibility factors.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Dermatology, Urology, Rheumatology, Nephrology, Osteoporosis (DURN) > Clinic of Rheumatology and Immunology

UniBE Contributor:

Villiger, Peter Matthias

Subjects:

600 Technology > 610 Medicine & health

ISSN:

2056-5933

Publisher:

BMJ Publishing Group

Language:

English

Submitter:

Pubmed Import

Date Deposited:

25 Jul 2022 08:50

Last Modified:

05 Dec 2022 16:22

Publisher DOI:

10.1136/rmdopen-2022-002208

PubMed ID:

35868737

Uncontrolled Keywords:

Ankylosing Spondylitis Epidemiology Low Back Pain Polymorphism, Genetic

BORIS DOI:

10.48350/171494

URI:

https://boris.unibe.ch/id/eprint/171494

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