Rare case of eosinophilic granulomatosis with polyangiitis in two patients with α-1-antitrypsin deficiency (PiSZ).
We present two cases of eosinophilic granulomatosis with polyangiitis occurring with α-1-antitrypsin deficiency, both PiSZ phenotype. The simultaneous occurrence of these two conditions has seldom been described in the literature, despite evidence of an association between α-1-antitrypsin deficiency and other forms of vasculitis. Both patients had pulmonary involvement and reported intermittent exacerbations of vasculitic symptoms. Both patients were managed on low-dose oral steroids and azathioprine remaining well with occasional exacerbations. It is important to consider whether there is an association between eosinophilic granulomatosis with polyangiitis and α-1-antitrypsin deficiency, as this may lead to more severe pulmonary symptoms during exacerbations. If a genetic association between the two conditions is found, clinicians should be aware of the possible need to screen for α-1-antitrypsin deficiency in appropriate patients.
University of Birmingham, Birmingham, UK.
Jordan Maureen
JM
Moxey
Department of Respiratory Medicine, Heart of England NHS Foundation Trust, Birmingham, UK.
Emma Victoria
EV
Low
Department of Inflammatory Research Facility, Institute of Inflammation and Ageing, Birmingham, UK.
Alice Margaret
AM
Turner
D000369:Aged, 80 and over; D019468:Disease Management; D004802:Eosinophilia / Q000209:etiology* / Q000235:genetics; D004803:Eosinophilic Granuloma / Q000209:etiology* / Q000235:genetics; D004804:Eosinophils / Q000378:metabolism; D005260:Female; D005820:Genetic Testing; D014890:Granulomatosis with Polyangiitis / Q000209:etiology* / Q000235:genetics; D006801:Humans; D008168:Lung / Q000473:pathology*; D009154:Mutation; D010641:Phenotype; D012720:Severity of Illness Index; D000515:alpha 1-Antitrypsin / Q000235:genetics* / Q000378:metabolism; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications*
C043392:SERPINA1 protein, human; D000515:alpha 1-Antitrypsin