Alpha-1 anti-trypsin deficiency and Henoch-Schönlein purpura associated with anti-neutrophil cytoplasmic and anti-endothelial cell antibodies of immunoglobulin-A isotype.
Alpha-1 anti-trypsin (A1AT) deficiency is an inherited enzyme deficiency that manifests with fatal lung and liver complications. In addition to pulmonary and hepatic involvement, the disease has also been linked to an increased incidence of vasculitic syndromes and autoimmune diseases, including Wegener's granulomatosis, microscopic polyarteritis nodosa and Henoch-Schonlein purpura (HSP). HSP, a systemic, small-vessel vasculitis syndrome, is characterized by a non-thrombocytopaenic purpuric rash, arthralgia, abdominal pain and nephritis. Both A1AT deficiency and HSP have been associated with anti-neutrophil cytoplasmic antibodies (ANCA) and anti-endothelial cell antibodies (AECA). We report a case of a 40-year-old man with severe A1AT deficiency, who developed HSP associated with AECA, ANCA and anti-phospholipid antibodies of the immunoglobulin-A isotype.
Patterson
Cynthia C
CC
College of Medicine and Public Health, The Ohio State University, OH, USA.
Ross
Patrick
P
Pope-Harman
Amy L
AL
Knight
Deborah A
DA
Magro
Cynthia M
CM
D000328:Adult; D019268:Antibodies, Antineutrophil Cytoplasmic / Q000276:immunology*; D017152:Antibodies, Antiphospholipid / Q000097:blood; D001323:Autoantibodies / Q000276:immunology*; D017809:Fatal Outcome; D019085:Fluorescent Antibody Technique, Direct; D006801:Humans; D011695:IgA Vasculitis / Q000209:etiology / Q000276:immunology* / Q000473:pathology; D007070:Immunoglobulin A / Q000097:blood*; D007132:Immunoglobulin Isotypes / Q000097:blood*; D008099:Liver / Q000473:pathology; D008168:Lung / Q000473:pathology; D008297:Male; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000276:immunology* / Q000473:pathology
D019268:Antibodies, Antineutrophil Cytoplasmic; D017152:Antibodies, Antiphospholipid; D001323:Autoantibodies; D007070:Immunoglobulin A; D007132:Immunoglobulin Isotypes; C087589:anti-endothelial cell antibody