Clinical association of mixed connective tissue disease and granulomatosis with polyangiitis: a case report and systematic screening of anti-U1RNP and anti-PR3 auto-antibody double positivity in ten European hospitals.
We report here the case of a 50-years-old man treated for mixed connective tissue disease (MCTD) positive for anti-U1 ribonucleoprotein (U1RNP) antibodies who secondarily developed a granulomatosis with polyangiitis (GPA) associated with anti-proteinase 3 anti-neutrophil cytoplasmic antibodies (PR3-ANCA). We then evaluated the frequency of the association between anti-U1RNP and anti-PR3-ANCA antibodies by a systematic retrospective study in ten European hospitals. Overall, out of 11,921 samples analyzed for both auto-antibodies, 18 cases of anti-U1RNP and anti-PR3-ANCA double positivity were found and only one patient presented with both MCTD and GPA symptoms. Our retrospective analysis indicates that anti-U1RNP and anti-PR3-ANCA antibodies double positivity is infrequent and very rarely associated with both MTCD and GPA. Our observation describes for the first time the coexistence of MTCD and severe GPA in a Caucasian patient. Association of anti-U1RNP and ANCA antibodies was rarely reported in the literature. Eleven cases of MCTD and ANCA vasculitis have been reported to date, with only two cases with anti-PR3-ANCA association, and only one vasculitis. The seven other cases reported in the literature presented with an association of MCTD and microscopic polyangiitis which appears to be a more frequent presentation than MTCD associated with GPA.
Department of Rheumatology, Lapeyronie Hospital, Montpellier University, Montpellier, France. amandine.tubery@gmail.com.
Amandine
0000-0003-0552-4578
A
Tubery
Groupe d'Etude de l'Auto-Immunité (GEAI), 49933, Angers, France.|Department of Immunology, Hôpital Rangueil, 31059, Toulouse, Cedex 9, France.
Françoise
F
Fortenfant
Department of Rheumatology, Lapeyronie Hospital, Montpellier University, Montpellier, France.
Bernard
B
Combe
Groupe d'Etude de l'Auto-Immunité (GEAI), 49933, Angers, France.|Departamento Universitário de Imunologia, Faculdade de Ciências Médicas, Universidade Nova de Lisboa, 1169-056, Lisbon, Portugal.
Isabelle
I
Abreu
Groupe d'Etude de l'Auto-Immunité (GEAI), 49933, Angers, France.|Department of Microbiology and Immunology, Catholic University of Leuven, Louvain, Belgium.|Department of Laboratory Medicine, University Hospitals Leuven, Louvain, Belgium.
Xavier
X
Bossuyt
Groupe d'Etude de l'Auto-Immunité (GEAI), 49933, Angers, France.|Department of Immunology, CHU Bicetre, 94270, Kremlin Bicêtre, France.
Pascale
P
Chretien
Groupe d'Etude de l'Auto-Immunité (GEAI), 49933, Angers, France.|Department of biological Immunology, UMR CNRS/AMU 7259, LBM AP-HM et Aix-Marseille-Université, 13005, Marseille, France.
Sophie
S
Desplat-Jégo
Groupe d'Etude de l'Auto-Immunité (GEAI), 49933, Angers, France.|Department of Immunology, Centre Hospitalier Lyon-Sud, Hospices Civils de Lyon, Pierre-Benite Cedex, 69495, France.
Nicole
N
Fabien
Groupe d'Etude de l'Auto-Immunité (GEAI), 49933, Angers, France.|Department of Immunology, CHU Henri Mondor - Service d'Immunologie Biologique, 94010, Créteil, France.
Sophie
S
Hue
Groupe d'Etude de l'Auto-Immunité (GEAI), 49933, Angers, France.|Department of Immunology, AP-HP hôpital Saint-Antoine, UFR 967, Faculté de medecine, Université Pierre et Marie Curie, 75571, Paris Cedex 12, France.
Catherine
C
Johanet
Groupe d'Etude de l'Auto-Immunité (GEAI), 49933, Angers, France.|Department of Immunology, CHU Dijon, 21079, Dijon, Cedex, France.
Daniela
D
Lakomy
Groupe d'Etude de l'Auto-Immunité (GEAI), 49933, Angers, France.|Department of Immunology, St Eloi Hospital, Montpellier University, CHRU Montpellier, 34295, Montpellier Cedex 5, France.
Thierry
T
Vincent
Department of Rheumatology, Lapeyronie Hospital, Montpellier University, Montpellier, France.
Claire I
CI
Daïen
D001247:Asthenia; D001323:Autoantibodies / Q000097:blood*; D005060:Europe / Q000453:epidemiology; D014890:Granulomatosis with Polyangiitis / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology*; D006761:Hospitals; D006801:Humans; D011695:IgA Vasculitis; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D008947:Mixed Connective Tissue Disease / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology*; D053146:Myeloblastin / Q000276:immunology*; D015995:Prevalence; D017411:Ribonucleoproteins, Small Nuclear / Q000276:immunology*; D015431:Weight Loss
D001323:Autoantibodies; D017411:Ribonucleoproteins, Small Nuclear; C552127:SNRNP35 protein, human; D053146:Myeloblastin
ANCA vasculitis; Anti-PR3 antibodies; Granulomatosis with polyangiitis; Mixed connective tissue disease; U1RNP antibodies