Skip to main content
SpringerLink
Log in

Epidemiology and Genetics

  • Chapter
  • First Online:
Large and Medium Size Vessel and Single Organ Vasculitis

Part of the book series: Rare Diseases of the Immune System ((RDIS))

  • 758 Accesses

Abstract

Giant cell arteritis (GCA) is the most frequent primary systemic vasculitis among patients ≥50 years of age, peaking in the seventh and eighth decade of life. The annual incidence rate of GCA increases with advancing age up to a maximum in the 70–79 year age group and then decreases slowly. Women are more affected than males with 3:1 ratio. The highest incidence is reported in North European countries and in North American population of the same descent with an incidence that varies between 32.4/100,000 people, older than 50 years of age in Norway and 18.9/100,000 people in Olsted County, Minnesota, USA Prevalence in GCA follows the same latitude distribution of incidence with higher prevalence in the Northern hemisphere compared to the Southern Europe and non-European country.

Prevalence study from Mayo Clinic reported that prevalence rate of GCA between 1950 and 2009 among women was 304 (95% CI 229–375) and among men was 91 (95% CI 46–156) per 100,000 population older than 50 years of age.

Compared with general population, all cause SMR (standardized mortality ratio) was not increased in GCA patients (SMR 1.081, 95% CI 0.963–1.214, p = 0.184) and the stratification by regions showed no significant increase in all cause SMR in Europe and the USA. Sex-specific meta-analysis provided by four out of eight studies included revealed the pooled SMR for women was 1.046 (95% CI 0.834–1.314, p = 0.696) and for men was 1.051 (95% CI 0.974–1.133, p = 0.204).

Female sex is the most important genetic risk factors for GCA as reported above.

Polymorphisms of the HLA II gene in particular the presence of HLA DRB1*04 alleles (both HLA DRB1*0401 and HLA DRB1*0404) are systematically associated with GCA supporting the thesis that GCA is driven by an antigen-based immune response.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
eBook
USD 16.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 159.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Crowson CS, Matteson EL, Myasoedova E, et al. The lifetime risk of adult–onset rheumatoid arthritis and other inflammatory autoimmune rheumatic disease. Arthritis Rheum. 2011;63(3):633–9.

    Article  PubMed  PubMed Central  Google Scholar 

  2. Kermani TA, Schafer VS, Crowson CS, et al. Increase in age at onset of giant cell arteritis: a population based study. Ann Rheum Dis. 2010;69:780–1.

    Article  PubMed  Google Scholar 

  3. Gonzalez MA, Vazquez-Rodriguez TR, Lopez-Diaz MJ, et al. Epidemiology of giant cell arteritis and polymyalgia rheumatica. Arthritis Rheum. 2009;61:1454–61.

    Article  Google Scholar 

  4. Gonzalez-Gay MA, Miranda-Filloy JA, Lopez-Diaz MJ, et al. Giant cell arteritis in northwestern Spain: a 25 year epidemiologic study. Medicine. 2007;86:61–8.

    Article  PubMed  Google Scholar 

  5. Chandran AK, Udayakumar PD, Crowson CS, et al. The incidence of Giant cell arteritis in Olmsted County Minnesota, over a sixty year period 1950-2009. Scand J Rheumatol. 2015;44:215–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Levine SM, Hellmann DB. Giant cell arteritis. Curr Opin Rheumatol. 2002;14:3–10.

    Article  PubMed  Google Scholar 

  7. Salvarani C, Cantini F, Boiardi L, Hunder GG. Polymyalgia Rheumatica and giant cell arteritis. N Engl J Med. 2002;347:261–71.

    Article  PubMed  Google Scholar 

  8. Boesen P, Sorensen SF. Giant cell arteritis, temporal arteritis, and polymyalgia rheumatica in a Danish county: a prospective investigation. Arthritis Rheum. 1987;30:294–9.

    Article  CAS  PubMed  Google Scholar 

  9. Franzen P, Sutinen S, von Knorring J. Giant cell arteritis and polymyalgia rheumatica in a region of Finland: an epidemiologic, clinical and pathologic study, 1984-1988. J Rheumatol. 1992;19:273–6.

    CAS  PubMed  Google Scholar 

  10. Bas-Lando M, Breuer GS, Berkun Y, et al. The incidence of giant cell arteritis in Jerusalem over a 25 years period: annual and seasonal fluctuations. Clin Exp Rheumatol. 2007;25(Suppl 44):S15–7.

    CAS  PubMed  Google Scholar 

  11. Gozalez-Gay MA, Garcia-Porrua C, Rivas MJ, et al. Epidemiology of biopsy proven giant cell arteritis in northwestern Spain: trend over a 1 year period. Ann Rheum Dis. 2001;60:367–71.

    Article  Google Scholar 

  12. Kobayashi S, Yano T, Matsumoto Y, et al. Clinical and epidemiologic analysis of giant cell (temporal) arteritis from a nationwide survey in 1998 in Japan: the first government-supported nationwide survey. Arthritis Rheum. 2003;49:594–8.

    Article  PubMed  Google Scholar 

  13. Petursdottir V, Johansson H, Nordborg E, et al. The epidemiology of biopsy positive giant cell arteritis: special reference to cyclic fluctuations. Rheumatology. 1999;38:1208–12.

    Article  CAS  PubMed  Google Scholar 

  14. De Smit E, Palmer AJ, Hewitt AW. Projected worldwide disease burden from giant cell arteritis by 2050. J Rheumatol. 2015;42:119–25.

    Article  PubMed  Google Scholar 

  15. Catanoso M, Mcchioni P, Boiardi L, et al. Incidence, Prevalence and Survival of biopsy-proven giant cell arteritis in northern Italy during a 26-year period. Arthritis Care Res. 2017;69:430–8.

    Article  Google Scholar 

  16. Brekke LK, Diamantopoulos AP, Fevang B-T, et al. Incidence of giant cell arteritis in Western Norway 1972-2012: a retrospective cohort study. Arthritis Res Ther. 2017;19:278–87.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  17. Smeeth L, Cook C, Hall AJ. Incidence of polymyalgia rheumatica and temporal arteritis in United Kingdom, 1990-2001. Ann Rheum Dis. 2006;65:1093–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  18. Haugeberg G, Irgens KA, Thomsen RS. No major differences in incidence of temporal arteritis in northern and western Norway compared with reports from southern Norway. Scan J Rheumatol. 2003;32:318–9.

    Article  CAS  Google Scholar 

  19. Baldursson O, Steinsson K, Bjornsson J, et al. Giant cell arteritis in Iceland. An epidemiologic and histopathologic analysis. Arthritis Rheum. 1994;37:1007–12.

    Article  CAS  PubMed  Google Scholar 

  20. Nordborg C, Johansson H, Petursdottir V, et al. The epidemiology of biopsy positive giant cell arteritis: special reference to changes in the age of population. Rheumatology. 2003;42:549–52.

    Article  CAS  PubMed  Google Scholar 

  21. Elling P, Olsson AT, Elling H. Synchronous variations of the incidence of temporal arteritis and polymyalgia rheumatica in different regions of Denmark; association with epidemics of Mycoplasma pneumoniae infection. J Rheumatol. 1996;23:112–9.

    CAS  PubMed  Google Scholar 

  22. Salvarani C, Crowson CS, O’Fallon WM, et al. Reappraisal of the epidemiology of giant cell arteritis in Olmstead County, Minnesota, over a fifty-year period. Arthritis Rheum. 2004;15:264–8.

    Article  Google Scholar 

  23. Abdul-Rahman AM, Molteno AC, Bevin TH. The epidemiology of giant cell arteritis in Otago, New Zealand: a 9-year analysis. N Z Med J. 2011;124:44–52.

    PubMed  Google Scholar 

  24. Ramstead CL, PAtel AD. Giant cell arteritis in a neuro-ophthalmology clinic in Sasktoon, 1998-2003. Can J Ophthalmol. 2007;42:295–8.

    PubMed  Google Scholar 

  25. Barrier J, Pion P, Massari R, et al. Epidemiologic approach to Horton’s disease in the department of Loire-Atlantique. 110 cases in 10 years. Rev Med Interne. 1982;3:13–20.

    Article  CAS  PubMed  Google Scholar 

  26. Pucelj NP, Hocevar A, Jese R, et al. The incidence of giant cell arteritis in Slovenia. Clin Rheumatol. 2019;38:285–90.

    Article  PubMed  Google Scholar 

  27. Salvarani C, Macchioni P, Zizzi F, et al. Epidemiologic and immunogenetic aspects of polymyalgia rheumatica and giant cell arteritis in northern Italy. Arthritis Rheum. 1991;34:351–6.

    Article  CAS  PubMed  Google Scholar 

  28. Dunstan E, Lester SL, Rischmueller M, Dodd T, et al. Epidemiology of biopsy-proven giant cell arteritis in South Australia. Intern Med J. 2014;44:32–9.

    Article  CAS  PubMed  Google Scholar 

  29. Pamuk ON, Donmez S, Karahan B, et al. Giant cell arteritis and polymyalgia rheumatica in northwestern Turkey: clinical features and epidemiological data. Clin Exp Rheumatol. 2009;27:830–3.

    CAS  PubMed  Google Scholar 

  30. Smith CA, Fidller WJ, Pinals RS. The epidemiology of giant cell arteritis: report of a ten-year study in Shelby County, Tennessee. Arthritis Rheum. 1983;26:1214–9.

    Article  CAS  PubMed  Google Scholar 

  31. Crowson CS, Matteson EL. Contemporary prevalence estimates for giant cell arteritis and polymyalgia rheumatica 2015. Semin Arthritis Rheum. 2017;47:253–6.

    Article  PubMed  PubMed Central  Google Scholar 

  32. Sonnenblick M, Nescher G, Friedlander Y, et al. Giant cell arteritis in Jerusalem a 12 year epidemiological study. Br J Rheumatol. 1994;33:938–41.

    Article  CAS  PubMed  Google Scholar 

  33. Lawrence RC, Felon DT, Helmick CG, et al. Estimates of prevalence of arthritis and other rheumatic conditions in the United States. Part II. Arthritis Rheum. 2008;58:26–35.

    Article  PubMed  PubMed Central  Google Scholar 

  34. Yates M, Grahm K, Watts RA, et al. The prevalence of giant cell arteritis and polymyalgia rheumatica in a UK primary care population. BMC Musculoskelet Disord. 2016;17:285–93.

    Article  PubMed  PubMed Central  Google Scholar 

  35. Gonzalez Gay MA, Alonso MD, Aguero JJ, et al. Temporal arteritis in a northwestern area of Spain: study of 57 biopsy proven patients. J Rheumatol. 1992;19:277–80.

    CAS  PubMed  Google Scholar 

  36. Herlyb K, Buckert F, Gross WL, et al. Doubled prevalence rates of ANCA-associated vasculitides and giant cell arteritis between 1994 and 2006 in northern Germany. Rheumatology (Oxford). 2014;53:882–9.

    Article  Google Scholar 

  37. Andiatikos A, Trontzas P, Christoyannis F, et al. Prevalence of rheumatic diseases in Greece: a cross-sectional population based epidemiological study. The ESORDIG Study. J Rheumatol. 2003;30:1589–601.

    Google Scholar 

  38. Mohammad A, Mohammad J, Nilsson JA, et al. Incidence, prevalence and morality rates of biopsy proven giant cell arteritis in Southern Sweden. Arthritis Rheum. 2011;63:1–9.

    Google Scholar 

  39. Lee YH, Song GG. Overall and cause-specific mortality in giant cell arteritis. Z Rheumatol. 2018;77:946–51.

    Article  CAS  PubMed  Google Scholar 

  40. Chazal T, Lhote R, Rey G, et al. Giant cell arteritis-related mortality in France: a multiple-cause-of-death analysis. Autoimmun Rev. 2018;17:1219–24.

    Article  PubMed  Google Scholar 

  41. Aouba A, Gonzalez Chiappe S, Eb M, et al. Mortality causes and trends associated with giant cell arteritis: analysis of French national death certificate database (1980-2011). Rheumatology (Oxford). 2018;57:1047–55.

    Article  Google Scholar 

  42. Li L, Neogi T, Jick S. Mortality in patients with Giant cell arteritis: a cohort study in UK Primary Care. Arthritis Care Res. 2018;70:1251–6.

    Article  Google Scholar 

  43. Macchioni P, Boiardi L, Muratore F, et al. Survival predictors in biopsy-proven giant cell arteritis: a northern Italian population-based study. Rheumatology (Oxford). 2019;58(4):609–16.

    Article  CAS  Google Scholar 

  44. Gabriel SE, Michaud K. Epidemiological studies in incidence, prevalence, mortality and comorbidity of rheumatic diseases. Arthritis Res Ther. 2009;11:229.

    Article  PubMed  PubMed Central  Google Scholar 

  45. Kinmont PD, McCallum DI. The aetiology, pathology and course of giant cell arteritis. The possible role of light sensitivity. Br J Dermatol. 1965;77:193–202.

    Article  CAS  PubMed  Google Scholar 

  46. O’Brien JP. A concept of diffuse actinic arteritis. The role of actinic damage to elastin in “age change” and arteritis of the temporal artery and polymyalgia rheumatica. Br J Dermatol. 1978;98:1–13.

    PubMed  Google Scholar 

  47. Wing S, Rider LG, Johnson JR, et al. Do solar cycles influence giant cell arteritis and rheumatoid arthritis incidence? BMJ Open. 2015;5:e006636.

    Article  PubMed  PubMed Central  Google Scholar 

  48. De Smit E, Clarke L, Sanfilippo PG, et al. Geo-epidemiology of temporal artery biopsy-positive giant cell arteritis in Australia and New Zealand: is there a seasonal influence? RMD Open. 2017;3(2):e000531.

    Article  PubMed  PubMed Central  Google Scholar 

  49. Hemauer A, Modrow S, Georgi J, et al. There is no association between polymyalgia rheumatica and parvovirus b19 infection. Ann Rheum Dis. 1999;58:657.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  50. Uddhammar A, Boman J, Juto P, et al. Antibodies against chlamydia pneumoniae, cytomegalovirus, enterovirus and respiratory syncytial virus in patients with polymyalgia rheumatica. Clin Exp Rheumatol. 1997;15:299–302.

    CAS  PubMed  Google Scholar 

  51. Bahtt AS, Manzo VE, Pedamallu CS, et al. In search of a candidate pathogen for giant cell arteritis: sequencing-based characterization of giant cell arteritis microbiome. Arthritis Rheumatol. 2014;66:1939–44.

    Article  Google Scholar 

  52. Wagner AD, Gerard HC, Fresemann T, et al. Detection of chlamydia pneumonia in giant cell vasculitis and correlation with the topographic arrangement of tissue-infiltrating dendritic cells. Arthritis Rheum. 2000;43:1543–51.

    Article  CAS  PubMed  Google Scholar 

  53. Gabriel SE, Epsy M, Erdam DD, et al. The role of parvovirus B19 in the pathogenesis of giant cell arteritis: a preliminary evaluation. Arthritis Rheum. 1999;42:1255–8.

    Article  CAS  PubMed  Google Scholar 

  54. Nagel MA, White T, Khmeleva N, et al. Analysis of varicella zoster virus in temporal arteries biopsy positive and negative for giant cell arteritis. JAMA Neurol. 2015;72:1281–7.

    Article  PubMed  PubMed Central  Google Scholar 

  55. Helweg Larsen J, Trap B, Obel N, et al. No evidence of parvovirus B19, chlamydia pneumoniae or human herpes virus infection in temporal artery biopsies in patients with giant cell arteritis. Rheumatology. 2002;41:445–9.

    Article  CAS  PubMed  Google Scholar 

  56. Rodriguez-Pla A, Bosch-Gil JA, Echevarria-Mayo JE, et al. No detection of parvovirus b19 or herpesvirus DNA in giant cell arteritis. J Clin Virol. 2004;31:11–5.

    Article  CAS  PubMed  Google Scholar 

  57. England BR, Mikuls TR, Xie F, et al. Herpes zoster as a risk for incident giant cell arteritis. Arthritis Rheumatol. 2017;69:2351–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  58. Zoller B, Li X, Sundquist J, et al. Occupational and socio-economic risk factors for giant cell arteritis: a nationwide study based on hospitalizations in Sweden. Scand J Rheumatol. 2013;42:487–97.

    Article  CAS  PubMed  Google Scholar 

  59. Mackie SL, Dasgupta B, Hordon L, et al. Ischemic manifestations in giant cell arteritis are associated with area level socio-economic deprivation, but not cardiovascular risk factors. Rheumatology. 2011;50:2014–22.

    Article  PubMed  Google Scholar 

  60. Reinhold-Keller E, Zeilder A, Gutfleisch J, et al. Giant cell arteritis is more prevalent in urban than in rural populations: results of an epidemiological study of primary systemic vasculitides in Germany. Rheumatology. 2000;39:1396–402.

    Article  CAS  PubMed  Google Scholar 

  61. Brekke LK, Fevang BT, Geirmund M. Increased incidence of giant cell arteritis in urban areas? J Rheumatol. 2019;46:327–8.

    Article  PubMed  Google Scholar 

  62. Gonzalez Gay MA, Amoli MM, Garcia-Porrua C, et al. Genetic markers of disease susceptibility and severity in giant cell arteritis and polymyalgia rheumatica. Semin Arthritis Rheum. 2003;33:38–48.

    Article  CAS  PubMed  Google Scholar 

  63. Carmona FD, Mackie SL, Martin JE, et al. A large scale genetic analysis reveals a strong contribution of the HLA class II region to giant cell arteritis susceptibility. Am J Hum Genet. 2015;96:565–80.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  64. Mackie SL, Taylor JC, Haroon-Rashid L, et al. Association of HLA-DRB1 amino acid residues with giant cell arteritis: genetic association study, meta-analysis and geoepidemiological investigation. Arthritis Res Ther. 2015;17:195–209.

    Article  PubMed  PubMed Central  Google Scholar 

  65. Weyand CM, Hicok KC, Hunder GG, et al. The HLA-DRB1 locus as a genetic component in giant cell arteritis. Mapping of a disease-linked sequence motif to the antigen binding site of the HLA-DR molecule. J Clin Invest. 1992;90:2355–61.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  66. Gonzalez-Gay MA, Garcia-Porrua C, Llorca J, et al. Visual manifestations of giant cell arteritis. Trend and clinical spectrum in 161 patients. Medicine. 2000;79:283–92.

    Article  CAS  PubMed  Google Scholar 

  67. Rauzy O, Fort M, Nourhashemi F, et al. Relation between HLA DRB1 alleles and corticosteroids resistance in giant cell arteritis. Ann Rheum Dis. 1998;57:380–2.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  68. Carmona FD, Gonzalez-Gay MA, Martin J. Genetic component of giant cell arteritis. Rheumatology (Oxford). 2014;53:6–18.

    Article  CAS  Google Scholar 

  69. Carmona FD, Vaglio A, Mackie SL, et al. A genome-wide association study identifies risk alleles in plasminogen and P4HA2 associated with giant cell arteritis. Am J Hum Genet. 2017;5:64–74.

    Article  Google Scholar 

  70. Purvis HA, Clarke F, Jordan CK, et al. Protein tyrosine phosphatase ptpn22 regulates il-1 beta-dependent th17 responses by modulating dectin-1 signaling in mice. Eur J Immunol. 2018;48:306–15.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Rheumatology Department, Prato Hospital, Prato, Italy

    Fabrizio Cantini & Carlotta Nannini

Authors
  1. Fabrizio Cantini
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Carlotta Nannini
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Rheumatology Unit, Azienda Unita’ Sanitaria Locale IRCCS di Reggio Emilia, Reggio Emilia, Italy

    Carlo Salvarani

  2. Rheumatology Unit, Azienda Unita’ Sanitaria Locale IRCCS di Reggio Emilia, Reggio Emilia, Italy

    Luigi Boiardi

  3. Rheumatology Unit, Azienda Unita’ Sanitaria Locale IRCCS di Reggio Emilia, Reggio Emilia, Italy

    Francesco Muratore

Rights and permissions

Reprints and permissions

Copyright information

© 2021 Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Cantini, F., Nannini, C. (2021). Epidemiology and Genetics. In: Salvarani, C., Boiardi, L., Muratore, F. (eds) Large and Medium Size Vessel and Single Organ Vasculitis. Rare Diseases of the Immune System. Springer, Cham. https://doi.org/10.1007/978-3-030-67175-4_2

Download citation

  • DOI: https://doi.org/10.1007/978-3-030-67175-4_2

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-67174-7

  • Online ISBN: 978-3-030-67175-4

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation