Familial risks between giant cell arteritis and Takayasu arteritis and other autoimmune diseases in the population of Sweden

Hauke Thomsen,Kristina Sundquist,Xinjun Li,Jan Sundquist,Asta Försti,Kari Hemminki

doi:10.1038/s41598-020-77857-7

Abstract

Giant cell arteritis (GCA, also called temporal arteritis) is a rare and Takayasu arteritis (TA) is an even rarer autoimmune disease (AID), both of which present with inflammatory vasculitis of large and medium size arteries. The risk factors are largely undefined but disease susceptibility has been associated with human leukocyte antigen locus. Population-level familial risk is not known. In the present nation-wide study we describe familial risk for GCA and for GCA and TA with any other AID based on the Swedish hospital diagnoses up to years 2012. Family relationships were obtained from the Multigeneration Register. Familial standardized incidence ratios (SIRs) were calculated for offspring whose parents or siblings were diagnosed with GCA, TA or any other AID. The number of GCA patients in the offspring generation was 4695, compared to 209 TA patients; for both, familial patients accounted for 1% of all patients. The familial risk for GCA was 2.14, 2.40 for women and non-significant for men. GCA was associated with 10 other AIDs and TA was associated with 6 other AIDs; both shared associations with polymyalgia rheumatica and rheumatoid arthritis. The results showed that family history is a risk factor for GCA. Significant familial associations of both GCA and TA with such a number of other AIDs provide evidence for polyautoimmunity among these diseases.

Highlights

Giant cell arteritis (GCA, called temporal arteritis or cranial arteritis), is a systemic inflammatory vasculitis of medium and large arteries, with a possible sequelae of an ischemic optic neuropathy and irreversible or significant visual loss[1]
A total of 769,991 patients with any of 43 autoimmune disease (AID) have been identified, of which 51% were received from the Inpatient Register and 49% from the Outpatient Register
One family had members diagnosed with both GCA and Takayasu disease (TA) (SIR for GCA 2.28, 0.0–8.92; standardized incidence ratios (SIRs) for TA 1.13, 0.0–4.42). To our knowledge this is the first family study on GCA and TA, which were earlier falsely considered to be the same disease of inflammatory vasculitis of large and medium size arteries, in spite of the different age distributions[2]

Summary

Introduction

Giant cell arteritis (GCA, called temporal arteritis or cranial arteritis), is a systemic inflammatory vasculitis of medium and large arteries, with a possible sequelae of an ischemic optic neuropathy and irreversible or significant visual loss[1]. Left untreated, it can result in many systemic, neurologic, and vascular complications, including thoracic aortic a neurysms[2]. GCA is a disease of cell-mediated immunity, and the pathophysiology involves activation of adventitial dendritic cells via Toll-like receptors (TLRs) 2 and 4 These in turn activate the differentiation and recruitment of T cells, which produce interferon gamma, a key driver of vascular inflammation and hyperplasia in GCA2. A concordant familial risk was calculated for both of these diseases and a discordant risk was calculated between these diseases and any other of 41 AIDs

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Results

Conclusion