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INTRODUCTION: ANCA-associated vasculitides (AAV) refer to a group of disorders causing inflammation of small vessels which include granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA), and eosinophilic granulomatosis with polyangiitis (EGPA, Churg-Strauss). Here I present a case of MPA vasculitis in a patient with alpha-1-antitrypsin (AAT) deficiency, and describe a proposed causal link between these two rare disease processes.
CASE REPORT: • 43-year-old man with history of newly-diagnosed AAT deficiency liver disease. • Chief complaint of subacute shortness of breath associated with hemoptysis and fever for 5 months. • Symptoms had been progressively worsening despite multiple courses of antibiotics and inhalers. • Pulmonary CT angiogram (CTPA) was negative for pulmonary embolism but showed “multifocal pulmonary infiltrates for whichpneumonia andseptic emboli could not be excluded”. • Infectious workup negative. • Positive myeloperoxidase (MPO) antibodies and findings on thoracoscopic lung biopsy most consistent with MPA. • Managed with steroids and rituximab.
DISCUSSION: • AAT is an acute-phase protein that inhibits the serine proteases of inflammatory cells, including proteinase 3 (PR3), to protect tissues from damage. •Mutations in the AAT-encoding gene SERPINA1 result in a structural change in AAT that inhibits its release into the bloodstream, leading to higher levels of proteases in the blood that can then cause excessive tissue damage. •Because increased levels of PR3 is a major component in the pathogenesis of ANCA vasculitis, a causal link between AAT deficiency and ANCA vasculitis has been proposed. There are many case reports describing this association, but the level of detail is variable based on the tests available at the time of the report. •Even though ANCA vasculitis is relatively rare, it is worth considering and pushed closer to the top of the differential list when a concurrent history of AAT deficiency is present.
Graduate Medical Education
Conference / Event Name
Academic Achievement Day, 2020
Providence St. Vincent, Internal Medicine Residency, Portland, Oregon
Nguyen, Bao-Ngoc and Hitchcock, Emily, "Struck By Lightning Twice" (2020). Providence St. Vincent Internal Medicine. 12.