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Autoinflammatory Disease-Associated Vasculitis/Vasculopathy

  • Vasculitis (L Espinoza, Section Editor)
  • Published:
Current Rheumatology Reports Aims and scope Submit manuscript

Abstract

Purpose of Review

Autoinflammatory diseases (AIDs) constitute several disorders that share similar characteristics, clinical features, disease course, and prognosis. They are characterized by the presence of recurrent episodes of unprovoked inflammation due to dysregulated innate immune system in the absence of autoantibodies or infections. AIDs include periodic fever syndromes and other less commonly growing list of syndromes. In this review, vasculitis associated with different AIDs will be highlighted.

Recent Findings

Vasculitis is inflammation and necrosis of the blood vessels causing impaired blood flow, ischemia, and infarction of the dependent tissues. It is a very rare manifestation of AIDs and when it occurs, the skin is the most affected tissue than any other organs such as kidneys, lungs, or CNS.

Summary

Although vasculitis and AIDs share similar manifestations such as fever, skin rashes, and neuropathy, vasculitis is not a characteristic feature of AIDs and still not clear if it represents a main clinical feature or a manifestation of other disease process.

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References

Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

  1. McDermott MF, Aksentijevich I, Galon J, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999;97:133–44.

    Article  CAS  Google Scholar 

  2. Lachmann H. Periodic fever syndromes. Best Pract Res Clin Rheumatol. 2017;31(4):596–609.

    Article  Google Scholar 

  3. •• Aeschlimann FA, Batu ED, Canna SW, Go E, Gül A, Hoffmann P, et al. A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease. Ann Rheum Dis. 2018;77:728–35 This cohort describes the most recent autoinflammatory syndrome, HA20.

    Article  Google Scholar 

  4. Gul A. Behcet’s syndrome is an autoinflammatory syndrome. Curr Drug Targets Inflamm Allergy. 2005;4:81–3.

    Article  Google Scholar 

  5. Lucherini OM, Rigante D, Sota J, Fabiani C, Obici L, et al. Updated overview of molecular pathways involved in the most common monogenic autoinflammatory diseases. Clin Exp Rheumatol. 2018;Suppl 110(1):3–9.

    Google Scholar 

  6. Jennette JC, Falk RJ, Bacon PA, Basu N, Cid MC, Ferrario F, et al. 2012 revised international Chapel Hill consensus conference nomenclature of vasculitides. Arthritis Rheum. 2013;65(1):1–11.

    Article  CAS  Google Scholar 

  7. •• Peleg H, Ben-Chetrit E. Vasculitis in the autoinflammatory diseases. Curr Opin Rheumatol. 2017;29(1):4–11 This review provides more detailed data about vasculitis in autoinflammatory syndromes.

    Article  CAS  Google Scholar 

  8. • Ginsberg S, Rosner I, Rozenbaum M, Slobodin G, Zilber K. Autoinflammatory associated vasculitis. Semin Arthritis Rheum. 2016;46(3):367–71 This report also emphasizes the leucocytoclastic vasculitis across spectrum of autoinflammatory diseases.

    Article  Google Scholar 

  9. Alghamdi M. Familial Mediterranean fever, review of the literature. Clin Rheumatol. 2017;36(8):1707–13.

    Article  Google Scholar 

  10. Lamprecht P, Moosig F, Adam-Klages S, Mrowietz U, Csernok E, Kirrstetter M, et al. Small vessel vasculitis and relapsing panniculitis in tumour necrosis factor receptor associated periodic syndrome (TRAPS). Ann Rheum Dis. 2004;63:1518–20.

    Article  CAS  Google Scholar 

  11. Drenth JP, Boom BW, Toonstra J, Van der Meer JW. Cutaneous manifestations and histologic findings in the hyperimmunoglobulinemia D syndrome. International hyper IgD study group. Arch Dermatol. 1994;130(1):59–65.

    Article  CAS  Google Scholar 

  12. Kolivras A, Theunis A, Ferster D, Lipsker D, et al. Cryopyrin-associated periodic syndrome: an autoinflammatory disease manifested as neutrophilic urticarial dermatosis with additional perieccrine involvement. J Cutan Pathol. 2011;38(2):202–8.

    Article  Google Scholar 

  13. Khatibi K, Heit JJ, Telischak NA, Elbers JM, Do HM. Cerebral vascular findings in PAPA syndrome: cerebral arterial vasculopathy or vasculitis and a posterior cerebral artery dissecting aneurysm. BMJ Case Rep. 2015;24:2015.

    Google Scholar 

  14. Rosé CD, Pans S, Casteels I, Anton J, Bader-Meunier B, et al. Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. Rheumatology (Oxford). 2015;54(6):1008–16.

    Article  Google Scholar 

  15. Ninomiya T, Takada H, Nagatomo Y, Nanishi E, Nagata H, Yamamura K, et al. Development of Kawasaki disease in a patient with PFAPA. Pediatr Int. 2013;55(6):801–2.

    Article  Google Scholar 

  16. Broderick L, Tremoulet AH, Burns JC, Bastian JF, Hoffman HM. Recurrent fever syndromes in patients after recovery from Kawasaki syndrome. Pediatrics. 2011;127:e489–93.

    Article  Google Scholar 

  17. Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Montealegre Sanchez GA, et al. Activated STING in a vascular and pulmonary syndrome. N Engl J Med. 2014;371(6):507–18.

    Article  CAS  Google Scholar 

  18. Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014;370(10):911–20.

    Article  CAS  Google Scholar 

  19. Navon Elkan P, Pierce SB, Segel R, Walsh T, Barash J, Padeh S, et al. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med. 2014;370(10):921–31.

    Article  Google Scholar 

  20. Meyts I, Aksentijevich I. Deficiency of adenosine deaminase 2 (DADA2): updates on the phenotype, genetics, pathogenesis, and treatment. J Clin Immunol. 2018;38(5):569–78.

    Article  CAS  Google Scholar 

  21. • Zhou Q, Wang H, Schwartz DM, et al. Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. Nat Genet. 2016;48:67–73 This study provides the initial report of A20 haploinsufficiency and associated mutations.

    Article  CAS  Google Scholar 

  22. Jain A, Misra DP, Sharma A, Wakhlu A, Agarwal V, Negi VS. Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes. Rheumatol Int. 2018;38(1):13–24.

    Article  CAS  Google Scholar 

  23. Ozdogan A, Arisoy N, Kasapcapur O, Sever L, et al. Vasculitis in familial Mediterranean fever. J Rheumatol. 1997;24(2):323–7.

    CAS  PubMed  Google Scholar 

  24. Piram M, Mahr A. Epidemiology of immunoglobulin A vasculitis (Henoch-Schönlein): current state of knowledge. Curr Opin Rheumatol. 2013;25(2):171–8.

    Article  CAS  Google Scholar 

  25. Sohar E, Gafni J, Pras M, et al. Familial Mediterranean fever: a survey of 470 cases and review of the literature. Am J Med. 1976;43(2):227–53.

    Article  Google Scholar 

  26. Ben-Chetrit E, Yazici H. Nonthrombocytopenic purpura in familial Mediterranean fever—co-morbidity with Henoch-Schonlein purpura or an additional rare manifestation of familial Mediterranean fever? Rheumatology (Oxford). 2016;55(7):1153–8.

    Article  Google Scholar 

  27. Yalcinkaya F, Ozcakar ZB, Kasapcopur O, Ozturk A, Akar N, Bakkaloglu A, et al. Prevalence of the MEFV gene mutations in childhood polyarteritis nodosa. J Pedi- atr. 2007;151:675–8.

    Article  CAS  Google Scholar 

  28. Barzilai A, Langevitz P, Goldberg I, Kopolovic J, Livneh A, Pras M, et al. Erysipelas-like erythema of familial Mediterranean fever: clinicopathologic correlation. J Am Acad Dermatol. 2000;42:791–5.

    Article  CAS  Google Scholar 

  29. Langevitz P, Zemer D, Livneh A, Shemer J, Pras M. Protracted febrile myalgia in patients with familial Mediterranean fever. J Rheumatol. 1994;21:1708–9.

    CAS  PubMed  Google Scholar 

  30. Luger S, Harter PN, Mittelbronn M, Wagner M, Foerch. Brain stem infarction associated with familial Mediterranean fever and central nervous system vasculitis. Clin Exp Rheumatol. 2013;31(3):93–5.

    PubMed  Google Scholar 

  31. Serrano R, Martinez MA, Andres A, Morales JM, Samartin R. Familial Mediterranean fever and acute myocardial infarction secondary to coronary vasculitis. Histopathology. 1998;33(2):163–7.

    Article  CAS  Google Scholar 

  32. Lachmann HJ, Papa R, Gerhold K, Obici L, Touitou I, Cantarini L, et al. The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry. Ann Rheum Dis. 2014;73(12):2160–7.

    Article  CAS  Google Scholar 

  33. Drenth JP, Haagsma CJ, van der Meer JW. Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group. Medicine (Baltimore). 1994;73(3):133.

    Article  CAS  Google Scholar 

  34. Houx L, Hachulla E, Kone-Paut I, Quartier P, Touitou I, Guennoc X, et al. Musculoskeletal symptoms in patients with cryopyrin-associated periodic syndromes: a large database study. Arthritis Rheum. 2015;67(11):3027–36.

    Article  CAS  Google Scholar 

  35. Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet. 2001;29:301–5.

    Article  CAS  Google Scholar 

  36. Førsvoll J, Kristoffersen EK, Øymar K. Incidence, clinical characteristics and outcome in Norwegian children with periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome; a population-based study. Acta Paediatr. 2013;102(2):187–92.

    Article  Google Scholar 

  37. Rigante D, Vitale A, Natale MF, Lopalco G, Andreozzi L, Frediani B, et al. A comprehensive comparison between pediatric and adult patients with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenopathy (PFAPA) syndrome. Clin Rheumatol. 2017;36:463–8.

    Article  Google Scholar 

  38. Savey L, Resche-Rigon M, Wechsler B, Comarmond C, Piette J, Cacoub P, et al. Ethnicity and association with disease manifestations and mortality in Behçet's disease. Orphanet J Rare Dis. 2014;9:42.

    Article  Google Scholar 

  39. Fei Y, Li X, Lin S, Song X, Wu Q, Zhu Y, et al. Major vascular involvement in Behçet's disease: a retrospective study of 796 patients. Clin Rheumatol. 2013;32(6):845–52.

    Article  Google Scholar 

  40. Calamia KT, Schirmer M, Melikoglu M. Major vessel involvement in Behçet disease. Curr Opin Rheumatol. 2005;17(1):1–8.

    Article  Google Scholar 

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Acknowledgments

The author acknowledges Professor Luis R. Espinoza, who reviewed this paper.

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Authors and Affiliations

  1. LSU Health Science Center, New Orleans, LA, USA

    Mansour Alghamdi

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  1. Mansour Alghamdi
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Correspondence to Mansour Alghamdi.

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This article is part of the Topical Collection on Vasculitis

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Alghamdi, M. Autoinflammatory Disease-Associated Vasculitis/Vasculopathy. Curr Rheumatol Rep 20, 87 (2018). https://doi.org/10.1007/s11926-018-0788-3

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  • DOI: https://doi.org/10.1007/s11926-018-0788-3

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