Acronym for Sting Associated Vasculopathy with onset in Infancy.
Incidence: < 1/106. Mutation of the TMEM173 or STING1 gene (5q31.2).
Autoinflammatory disease of genetic origin: this is a type I interferopathy due to the activation of STING genes (STimulator of INterferon Genes). Onset during the neonatal period or early childhood of systemic inflammatory signs and involvement of the small vessels that lead to severe skin, lung and joint damage.
Clinical presentation:
- recurrent bouts of moderate fever,
- all chronic cought and failure to thrive following progressive interstitial lung disease: biopsy, diffuse interstitial lung disease with macrophagic alveolitis and CD20+ infiltrate.
- polyarthritis
- purplish and flaking lesions on the fingers, toes, nose (tip, septal perforation), cheeks and ears; they are exacerbated during exposure to cold (sometimes Raynaud's phenomenon) and can progress to chronic ulcerations of the extremities with necrosis and self-amputation.
Treatment: JAK1 inhibitors (Jakus Kinase 1): tofacitinib, barictinib or ruxolitinib
Anesthetic implications:
SpO2 at room air; continuation of ongoing treatment; drug interactions of JAK1 inhibitors; protection against hypothermia and contact with cold objects
References :
- Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Montealegre Sanchez GA et al.
Activated STING in a vascular and pulmonary syndrome.
New Eng J Med 2014 ; 371: 507-18.
Updated: October 2021