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Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes

Rheumatology International volume 38, pages 13–24 (2018)Cite this article

Abstract

Monogenic autoinflammatory syndromes are a rare group of disorders characterized by periodic episodes of systemic inflammation of endogenous origin. Sometimes, these diseases may present with features akin to vasculitis. We conducted a literature review on such vasculitic manifestations in described monogenic autoinflammatory syndromes utilizing the Online Mendelian Inheritance in Man (OMIM), Medline, and Scopus databases. Our search identified that Familial Mediterranean fever (FMF) can manifest with features of either small, medium, large, or variable-vessel vasculitis. Stimulator of interferon gene (STING)-associated vasculopathy of infancy (SAVI) is an interferonopathy that can mimic the presentation of medium-vessel or small-vessel vasculitis, whereas deficiency of adenosine deaminase 2 (DADA2) is another such mimic of medium-vessel vasculitis, associated in a significant number of patients with features of immunodeficiency. Occasional reports exist of vasculitic manifestations in tumor necrosis factor (TNF) receptor-associated periodic fever syndrome (TRAPS) and chronic infantile neurologic cutaneous and articular disorder (CINCA), whereas mevalonate kinase deficiency can also mimic the presentation of small- or medium-vessel vasculitis. Clinicians should be aware of the possibility of autoinflammatory disease presenting as vasculitis to diagnose and treat the same appropriately.

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Abbreviations

AAV:

ANCA-associated small-vessel vasculitis

AIS:

Autoinflammatory syndromes

ANCA:

Anti-neutrophil cytoplasmic antibodies

AZA:

Azathioprine

BD:

Behcet’s disease

CIAS1:

Cold induced autoinflammatory syndrome 1

CINCA:

Chronic infantile neurologic cutaneous and articular disease

CRP:

C-reactive protein

DADA2:

Deficiency of adenosine deaminase 2

DIRA:

Deficiency of IL-1 receptor antagonist

FMF:

Familial Mediterranean fever

GI:

Gastrointestinal

GPA:

Granulomatosis with polyangiitis

HBV:

Hepatitis B virus

HIDS:

Hyper IgD syndrome

IgAV:

Immunoglobulin A vasculitis

IFN:

Interferon

IL:

Interleukin

IVIG:

Intravenous immunoglobulin

KD:

Kawasaki’s disease

LVV:

Large-vessel vasculitis

MEFV:

Mediterranean fever gene

MKD:

Mevalonate kinase deficiency

MPA:

Microscopic polyangiitis

NFκB:

Nuclear factor kappa B

NOMID:

Neonatal onset multisystemic inflammatory disorder

OMIM:

Online Mendelian Inheritance in Man

PAN:

Polyarteritis nodosa

PAAND:

Pyrin-associated autoinflammation with neutrophilic dermatosis

PAPA:

Pyogenic arthritis, pyoderma gangrenosum and acne syndrome

PBMC:

Peripheral blood mononuclear cells

PFM:

Protracted febrile myalgia

PSTPIP1:

Proline serine threonine phosphatase interacting protein 1

SAVI:

STING-associated vasculopathy of infancy

STING:

Stimulator of interferon genes

TA:

Takayasu’s arteritis

TNF:

Tumor necrosis factor

TNF-α:

Tumor necrosis factor alpha

TNFAIP3:

TNF-α-induced protein 3

TNFRSF1A:

TNF receptor superfamily 1 A

TRAPS:

TNF receptor-associated periodic syndrome

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Affiliations

  1. Department of Clinical Immunology, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, 226014, India

    Avinash Jain, Durga Prasanna Misra & Vikas Agarwal

  2. Clinical Immunology and Rheumatology Services, Department of Internal Medicine, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India

    Aman Sharma

  3. Department of Rheumatology, King George’s Medical University, Lucknow, 226003, India

    Anupam Wakhlu

  4. Department of Clinical Immunology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, 605006, India

    Vir Singh Negi

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  1. Avinash Jain
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Jain, A., Misra, D.P., Sharma, A. et al. Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes. Rheumatol Int 38, 13–24 (2018). https://doi.org/10.1007/s00296-017-3839-6

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Keywords

  • Hereditary autoinflammatory diseases
  • Systemic vasculitis
  • Familial Mediterranean fever
  • STING-associated vasculopathy of infancy
  • Deficiency of adenosine deaminase 2