Pleuropulmonary manifestations of VEXAS syndrome
Raphael Borie
(1)
,
Marie-Pierre Debray
(1)
,
Alexis F. Guedon
(2)
,
Arsène Mekinian
(2)
,
Louis Terriou
(3)
,
Valentin Lacombe
(4)
,
Estibaliz Lazaro
(5)
,
Aurore Meyer
(6)
,
Alexis Mathian
(7)
,
Samuel Ardois
(8)
,
Guillaume Vial
(9, 10)
,
Thomas Moulinet
(11, 12)
,
Benjamin Terrier
(13)
,
Yvan Jamilloux
(14)
,
Mael Heiblig
(15, 16)
,
Jean-David Bouaziz
(17)
,
Eve Zakine
(17)
,
Rodereau Outh
(18)
,
Sylvie Groslerons
(19)
,
Adrien Bigot
(20)
,
Edouard Flamarion
(21)
,
Marie Kostine
(10)
,
Pierrick Henneton
(22)
,
Sebastien Humbert
(23)
,
Arnaud Constantin
(24, 25)
,
Maxime Samson
(26)
,
Nadine Magy Bertrand
(23)
,
Pascal Biscay
(9)
,
Celine Dieval
(27)
,
Hervé Lobbes
(28)
,
Juliette Jeannel
(6)
,
Amélie Servettaz
(29)
,
Leo Adelaide
(30)
,
Julie Graveleau
(31)
,
Benjamin de Sainte-Marie
(32)
,
Joris Galland
(33)
,
Vivien Guillotin
(10)
,
Eugenie Duroyon
(13)
,
Marie Templé
(13)
,
Rim Bourguiba
(34)
,
Sophie Georgin Lavialle
(34)
,
Olivier Kosmider
(13)
,
Alexandra Audemard-Verger
(20)
1
PHERE (UMR_S_1152 / U1152) -
Physiopathologie et Epidémiologie des Maladies Respiratoires
2 CHU Saint-Antoine [AP-HP]
3 LIRIC - Lille Inflammation Research International Center - U 995
4 CHU Angers - Centre Hospitalier Universitaire d'Angers
5 Service de médecine interne et maladies infectieuses [Bordeaux]
6 CHU Strasbourg - Centre Hospitalier Universitaire [Strasbourg]
7 CHU Pitié-Salpêtrière [AP-HP]
8 Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Pontchaillou]
9 UB - Université de Bordeaux
10 CHU Bordeaux - Centre Hospitalier Universitaire de Bordeaux
11 IMoPA - Ingénierie Moléculaire et Physiopathologie Articulaire
12 CHRU Nancy - Centre Hospitalier Régional Universitaire de Nancy
13 Hôpital Cochin [AP-HP]
14 Hôpital de la Croix-Rousse [CHU - HCL]
15 CIRI-LIB - Immuno-Biologie des Lymphomes [CIRI]
16 Service d’Hématologie [Centre Hospitalier Lyon Sud - HCL]
17 AP-HP - Hopital Saint-Louis [AP-HP]
18 Centre Hospitalier Saint Jean de Perpignan
19 Centre Hospitalier Agen-Nérac
20 CHRU Tours - Centre Hospitalier Régional Universitaire de Tours
21 HEGP - Hôpital Européen Georges Pompidou [APHP]
22 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]
23 CHRU Besançon - Centre Hospitalier Régional Universitaire de Besançon
24 Centre de Rhumatologie [CHU Toulouse]
25 UT3 - Université Toulouse III - Paul Sabatier
26 CHU Dijon
27 CH Rochefort - Centre Hospitalier de Rochefort
28 CHU Estaing [Clermont-Ferrand]
29 CHU Reims - Hôpital universitaire Robert Debré [Reims]
30 CH Vienne - Centre Hospitalier de Vienne Lucien Hussel
31 Centre hospitalier de Saint-Nazaire
32 TIMONE - Hôpital de la Timone [CHU - APHM]
33 Centre Hospitalier de Bourg en Bresse
34 CHU Tenon [AP-HP]
2 CHU Saint-Antoine [AP-HP]
3 LIRIC - Lille Inflammation Research International Center - U 995
4 CHU Angers - Centre Hospitalier Universitaire d'Angers
5 Service de médecine interne et maladies infectieuses [Bordeaux]
6 CHU Strasbourg - Centre Hospitalier Universitaire [Strasbourg]
7 CHU Pitié-Salpêtrière [AP-HP]
8 Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Pontchaillou]
9 UB - Université de Bordeaux
10 CHU Bordeaux - Centre Hospitalier Universitaire de Bordeaux
11 IMoPA - Ingénierie Moléculaire et Physiopathologie Articulaire
12 CHRU Nancy - Centre Hospitalier Régional Universitaire de Nancy
13 Hôpital Cochin [AP-HP]
14 Hôpital de la Croix-Rousse [CHU - HCL]
15 CIRI-LIB - Immuno-Biologie des Lymphomes [CIRI]
16 Service d’Hématologie [Centre Hospitalier Lyon Sud - HCL]
17 AP-HP - Hopital Saint-Louis [AP-HP]
18 Centre Hospitalier Saint Jean de Perpignan
19 Centre Hospitalier Agen-Nérac
20 CHRU Tours - Centre Hospitalier Régional Universitaire de Tours
21 HEGP - Hôpital Européen Georges Pompidou [APHP]
22 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]
23 CHRU Besançon - Centre Hospitalier Régional Universitaire de Besançon
24 Centre de Rhumatologie [CHU Toulouse]
25 UT3 - Université Toulouse III - Paul Sabatier
26 CHU Dijon
27 CH Rochefort - Centre Hospitalier de Rochefort
28 CHU Estaing [Clermont-Ferrand]
29 CHU Reims - Hôpital universitaire Robert Debré [Reims]
30 CH Vienne - Centre Hospitalier de Vienne Lucien Hussel
31 Centre hospitalier de Saint-Nazaire
32 TIMONE - Hôpital de la Timone [CHU - APHM]
33 Centre Hospitalier de Bourg en Bresse
34 CHU Tenon [AP-HP]
Arsène Mekinian
- Fonction : Auteur
- PersonId : 818189
- ORCID : 0000-0003-2849-3049
- IdRef : 131898493
Alexis Mathian
- Fonction : Auteur
- PersonId : 941137
- ORCID : 0000-0002-7653-6528
- IdRef : 10384371X
Guillaume Vial
- Fonction : Auteur
Thomas Moulinet
- Fonction : Auteur
- PersonId : 1492584
- IdHAL : thomas-moulinet
- ORCID : 0000-0003-4134-6086
- IdRef : 198359179
Yvan Jamilloux
- Fonction : Auteur
- PersonId : 769520
- ORCID : 0000-0001-5249-3650
- IdRef : 224696165
Mael Heiblig
- Fonction : Auteur
- PersonId : 1495108
- IdHAL : mael-heiblig
- ORCID : 0000-0003-1682-8657
Arnaud Constantin
- Fonction : Auteur
- PersonId : 1290743
- ORCID : 0000-0003-2618-2888
Hervé Lobbes
- Fonction : Auteur
- PersonId : 1490309
- IdHAL : herlobbe
- ORCID : 0000-0002-8511-8432
Résumé
Background
The vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a newly identified autoinflammatory disorder related to somatic UBA1 mutations. Up to 72% of patients may show lung involvement.
Research Question
What are the pleuropulmonary manifestations in VEXAS syndrome?
Study Design and Methods
One hundred fourteen patients were included in the French cohort of VEXAS syndrome between November 2020 and May 2021. Each patient included in the study who had an available chest CT scan was discussed in an adjudication multidisciplinary team and classified as showing potentially pleuropulmonary-specific involvement of VEXAS syndrome or others.
Results
Fifty-one patients had a CT scan available for review and 45 patients (39%) showed pleuropulmonary abnormalities on chest CT scan that were considered related to VEXAS syndrome after adjudication. Most patients were men (95%) with a median age 67.0 years at the onset of symptoms. Among these 45 patients, 44% reported dyspnea and 40% reported cough. All 45 patients showed lung opacities on chest CT scan (including ground-glass opacities [87%], consolidations [49%], reticulation [38%], and septal lines [51%]) and 53% of patients showed pleural effusion. Most patients showed improvement with prednisone, but usually required > 20 mg/d. The main clinical and biological features as well the median survival did not differ between the 45 patients with pleuropulmonary involvement and the rest of the cohort, suggesting that the prevalence of pleuropulmonary involvement might have been underdiagnosed in the rest of the cohort.
Interpretation
Pulmonary manifestations are frequent in VEXAS syndrome, but rarely are at the forefront. The initial outcome is favorable with prednisone and does not seem to lead to pulmonary fibrosis.