[MIM 616 414]

Acronym for COatomer associated  Protein  Alpha

Incidence: 1.106.  De novo mutation or autosomal dominant transmission with variable penetration of a mutation of the COPA gene (1q23.2). Genetic auto-inflammatory disease (type 1 interferonopathy) causing a continuous activation of the alpha interferon pathway following the accumulation of the STING protein in the Golgi apparatus.

Association of:

-        an interstitial lung disease: tachypnea, cough, hemoptysis, interstitial fibrosis, diffusion disorders; it is one of the genetic causes of pulmonary bleeding.

-        an inflammatory arthritis: joint pain, non-erosive arthritis

-        sometimes a renal involvement: glomerulonephritis

Biology: high levels of antinuclear and neutrophilic anticytoplasmic antibodies and of the rheumatoid factor.

Treatment: ruxolitinib or baricitinib

Anesthetic implications:

SpO2  at room air, chest X-Ray; renal function: adapt perioperative hydration and be careful with NSAID's; immunosuppression

References:

-        Vece TJ, Watkin LB, Nicholas SK, Canter D, Braun MC et al.
Copa syndrome: a novel autosomal dominant immune dysregulatory disease.
J Clin Immunol 2016 ; 36:377–87        

Updated: January 2021