ACR Meeting Abstracts

ACR Meeting Abstracts

Abstract Number: 2010

Erdheim-Chester Disease: A Monocentric Series Of 96 Patients

Julien Haroche1, Laurent Arnaud1, Fleur Cohen-Aubart1, Baptiste Hervier1, David Saadoun1, Nathalie Costedoat-Chalumeau2, Sophie Besnard3, Kim Heang Ly4, Michel Pavic5, Jean-Gabriel Fuzibet6, Loic Raffray7, Laurent Aaron8, Pascal Bindi9, António Marinho10, Bjorn Blomberg11, Juan Salvatierra12, Claudia Dechant13, Aude Rigolet14, François Lifermann15, Jo Caers16, Catherine Veyssier-Belot17, Bertrand Wechsler18, Lucienne Michaux19, Giorgio Graziani20 and Zahir Amoura1, 1Internal Medicine, Hôpital Pitié-Salpêtrière, AP-HP, UPMC Univ Paris 06 & French National Reference Center For Systemic Lupus and Antiphospholipid Syndrome, Paris, France, 2Internal Medicine, Hopital Cochin, Paris, France, 3Internal Medicine, Pontchaillou University Hospital, Rennes, Rennes, France, 4CHU Dupuytren, Limoges, Limoges, France, 5Internal Medicine, HIA Desgenettes, Lyon, France, Lyon, France, 6Internal Medicine, Internal Medicine, Hôpital de l'Archet 1, CHU de Nice, Nice, France, 7Internal Medicine, CHU de Bordeaux, Bordeaux, France, 8Internal Medicine, Hôpital Jacques Coeur, Bourges, Bourges, France, 9Internal Medicine, Department of medicine A, Centre Hospitalier de Verdun, Verdun, France, 10Unidade de Imunologia Clínica, Porto, Portugal, 11Internal Medicine, University of Bergen, Norway, Bergen, France, 12Rheumatology, University Hospital San Cecilio, Granada, Spain, 13Division of Rheumatology and Clinical Immunology, Med. Klinik und Poliklinik IV, University of Munich, Munich, Germany, 14Department: inflammation, immunopathology and biotherapy (DHU i2B), Assistance Publique - Hôpitaux de Paris, Pitié-Salpêtrière University Hospital, Paris, France, 15Internal Medicine, CH Côte d'Argent, Dax, Dax, France, 16Department of Clinical Hematology, Centre Hospitalier Universitaire de Liège Domaine Universitaire du Sart Tilman, Liège, Belgium, 17Internal Medicine, CHI Poissy Saint-Germain-en-Laye, Saint-Germain-en-Laye, France, 18Internal Medicine, DHU 2iB Internal Medicine Referal Center for Autoimmune diseases Pitie Hospital, Paris, France, 19Hematology, Cliniques Universitaires Saint-Luc UCL Bruxelles, Bruxelles, Belgium, 20Internal Medicine and Nephrology, Istituto Clinico Humanitas IRCCS, Rozzano-Milano, Italy, Milan, Italy

Meeting: 2013 ACR/ARHP Annual Meeting

Keywords:

Session Information

Title: Miscellaneous Rheumatic and Inflammatory Diseases II: Miscellaneous Rheumatic Diseases

Session Type: Abstract Submissions (ACR)

Background/Purpose:

Erdheim-Chester disease (ECD) is a rare non-Langerhans form of histiocytosis characterized by an infiltration of foamy CD68+ CD1a- histiocytes. More than 500 cases of this disease have been reported since its first description in 1930.

Methods:

The aim of this study was to describe a single-centre series of 96 consecutive ECD patients hospitalized at least once between 1992 and 2013 in the departement of internal medicine of Pitié-Salpêtrière hospital, Paris, France.

The geographic origin of patients referred to our tertiary care centre is international: 75 are french residents, while 21 patients come from Germany, UK, Eire, Belgium, Spain, Portugal, Israel, Norway and South Africa.

Results:

Patients were 75 men and 21 women. Median age at diagnosis was 54.6 years (5-81 yr). In the present series the mean diagnostic delay is 2 yr (0-35yr). Mean follow-up between diagnostic and last news is 37.3 months (1.63-376 months). Fifty-five patients (56%) had peri-renal. Forty patients (42%) had a peri-aortic sheathing of the whole aorta (“coated aorta”), 33 (34%) a pericardial involvement, 29 (30%) a coronary involvement, 20 (21%) a reno-vascular hypertension, 34 (35%) a pseudotumoral infiltration of the right atrium. Twenty-two patients (23%) had an exophthalmos, 24 (25%) a xanthelasma often in peri-orbital spaces, 29 (30%) a diabetes insipidus, and 38 (40%) an involvement of the central nervous system (CNS), among which 17 (18%) with a cerebellar involvement. Twenty-one patients (22%) had hydronephrosis, 35 (36%) a pulmonary involvement, often asymptomatic. Seventy-four patients (80%) had high C-reactive protein values.

Eighty-seven patients (91%) have been treated with interferon alpha (IFNα) or Pegylated IFNα, with high doses when facing CNS and/or cardiac involvements. Twenty-two patients died (23%). We were able to identify a BRAFV600E mutation among 27 of the 53 patients (51%) among which tissue samples were exploitable. Seven of these patients with multisystemic ECD, refractory and/or intolerant to IFNα, have been treated with BRAF inhibitors (vemurefenib) with spectacular and sustained responses.

Conclusion:

We report the world largest’s monocentric series of ECD patients. The prognosis, which largely depends on the presence of CNS involvement, is variable. First line of treatment remains IFNα, which use is associated with improved survival in ECD is an independent prognostic factor of survival of ECD. Nevertheless, long-term therapy with IFNα may be poorly tolerated, and the place of BRAF inhibition, particularly for BRAFV600E mutated patients with life-threatening forms of the disease, should be studied in larger scale.

Disclosure:

J. Haroche,
None;

L. Arnaud,
None;

F. Cohen-Aubart,
None;

B. Hervier,
None;

D. Saadoun,
None;

N. Costedoat-Chalumeau,
None;

S. Besnard,
None;

K. H. Ly,
None;

M. Pavic,
None;

J. G. Fuzibet,
None;

L. Raffray,
None;

L. Aaron,
None;

P. Bindi,
None;

A. Marinho,
None;

B. Blomberg,
None;

J. Salvatierra,
None;

C. Dechant,
None;

A. Rigolet,
None;

F. Lifermann,
None;

J. Caers,
None;

C. Veyssier-Belot,
None;

B. Wechsler,
None;

L. Michaux,
None;

G. Graziani,
None;

Z. Amoura,
None.

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