Erdheim-Chester disease – A case report

Stanko Petrović; Radoje Doder; Nenad Perišić; Marijana Petrović; Irina Brčerević; Branka Roganović

doi:10.2298/VSP151012112P

Stanko Petrović Military Medical Academy, Clinic of Gastroenterology and Hepatology, Belgrade, Serbia.
Radoje Doder Military Medical Academy, Clinic of Gastroenterology and Hepatology, Belgrade, Serbia; University of Defence, Faculty of Medicine of the Military Medical Academy, Belgrade, Serbia.
Nenad Perišić Military Medical Academy, Clinic of Gastroenterology and Hepatology, Belgrade, Serbia.
Marijana Petrović Military Medical Academy, Clinic of Nephrology, Belgrade, Serbia.
Irina Brčerević Military Medical Academy, Clinic of Gastroenterology and Hepatology, Belgrade, Serbia.
Branka Roganović Military Medical Academy, Clinic of Gastroenterology and Hepatology, Belgrade, Serbia; University of Defence, Faculty of Medicine of the Military Medical Academy, Belgrade, Serbia.

DOI: https://doi.org/10.2298/VSP151012112P

Ključne reči: erdheim-chester disease||, ||erdheim-chesterova bolest, diagnostic techniques and procedures||, ||dijagnostičke tehnike i procedure, immunohistochemistry||, ||imunohistohemija, diagnosis, differential||, ||dijagnoza, diferencijalna, drug therapy||, ||lečenje lekovima,

Sažetak

Uvod. Oboljenje Erdhajm-Čester (Erdheim-Chester, ECD) je redak oblik ne-Langerhansove histiocitoze sa oko 500 bolesnika prikazanih do sada. To je multisistemska bolest koju karakteriše bilateralna simetrična kortikalna skleroza dugih kostiju. Patohistološki, karakteriše se nakupljanjem histiocita imunohistohemijski pozitivnih na CD68 i negativnih na S-100 i CD1a. Nema jasnih preporuka za lečenje, ali bolesnici sa simptomima, disfunkcijom organa ili zahvatanjem centralnog nervnog sistema zahtevaju lečenje. Prikaz bolesnika. Prikazali smo bolesnika sa multisistemskim oblikom ECD, sa zahvatanjem dugih kostiju, hipofize, trbušne duplje i perifernih nerava. Pet godina posle prvih simptoma posumnjalo se da se radi o ECD. Lečenje je započeto prednisonom, 60 mg jednom dnevno. Kada je potvrđena dijagnoza ECD uveden je interferon alfa 2A, ali je ubrzo ukinut zbog neželjenih efekata. S obzirom na to da su histiociti bili pozitivni na trombocitni faktor rasta alfa (PDGFR alfa) u terapiju je uveden imatinib mesilat. Nakon dva meseca terapije, imatinib je ukinut zbog nedostatka terapijskog efekta. Zbog pogoršanja bolesti, nastupio je smrtni ishod. Zaključak. Prikazali smo bolesnika sa intraperitonealnom lokalizacijom bolesti, bez zahvatanja srca i pluća. Postoji nekoliko ključnih stavki: dijagnoza ECD može biti otežana, bila su uključena tri režima terapije i bolesnik je preminuo devet godina od početnih simptoma zbog sporog toka bolesti i neuspešnog lečenja.

Reference

Chester W. Über lipoid Granulomatose. Virchows Arch Pathol Anat 1930; 279(2): 561–602.

Cavalli G, Biavasco R, Borgiani B, Dagna L. Oncogene-induced senescence as a new mechanism of disease: The paradigm of erdheim-chester disease. Front Immunol. 2014; 5: 281.

Emile J, Diamond EL, Hélias-Rodzewicz Z, Cohen-Aubart F, Char-lotte F, Hyman DM, et al. Recurrent RAS and PIK3CA muta-tions in Erdheim-Chester disease. Blood 2014; 124(19): 3016−9.

Bosco J, Allende A, Varikatt W, Lee R, Stewart GJ. Does the BRAF(V600E) mutation herald a new treatment era for Erd-heim-Chester disease? A case-based review of a rare and diffi-cult to diagnose disorder. Intern Med J 2015; 45(3): 348−51.

Antunes C, Graça B, Donato P. Thoracic, abdominal and muscu-loskeletal involvement in Erdheim-Chester disease: CT, MR and PET imaging findings. Insights Imaging 2014; 5(4): 473−82.

Veyssier-Belot C, Cacoub P, Caparros-Lefebvre D, Wechsler J, Brun B, Remy M, et al. Erdheim-Chester disease. Clinical and radiologic characteristics of 59 cases. Medicine (Baltimore) 1996; 75(3): 157−69.

Bourke SC, Nicholson AG, Gibson GJ. Erdheim-Chester disease: Pulmonary infiltration responding to cyclophosphamide and prednisolone. Thorax 2003; 58(11): 1004−5.

Yano S, Kobayashi K, Kato K, Tokuda Y, Ikeda T, Takeyama H. A case of Erdheim-Chester disease effectively treated by cyclo-phosphamide and prednisolone. Nihon Kokyuki Gakkai Zas-shi 2007; 45(1): 43−8.

Ho P, Smith C. High-dose methotrexate for the treatment of relapsed central nervous system erdheim-chester disease. Case Rep Hematol 2014; 2014: 269359.

Darstein F, Kirschey S, Heckl S, Rahman F, Schwarting A, Schuch-mann M, et al. Successful treatment of Erdheim-Chester disease with combination of interleukin-1-targeting drugs and high-dose glucocorticoids. Intern Med J 2014; 44(1): 90−2.

Myra C, Sloper L, Tighe PJ, McIntosh RS, Stevens SE, Gregson RH, et al. Treatment of Erdheim-Chester disease with cladribine: A rational approach. Br J Ophthalmol 2004; 88(6): 844−7.

Adam Z, Sprláková A, Rehák Z, Koukalová R, Szturz P, Krejcí M, et al. Partial regression of CNS lesions of Erdheim-Chester disease after treatment with 2-chlorodeoxadenosine and their full remission following treatment with lenalidomide. Klin Onkol 2011; 24(5): 367−81.(Czeck)

Broccoli A, Stefoni V, Faccioli L, Agostinelli C, Spinardi L, Pastore TM, et al. Bilateral orbital Erdheim-Chester disease treated with 12 weekly administrations of VNCOP-B chemotherapy: A case report and a review of literature. Rheumatol Int 2012; 32(7): 2209−13.

Haroche J, Amoura Z, Trad SG, Wechsler B, Cluzel P, Grenier PA, et al. Variability in the efficacy of interferon-alpha in Erdheim-Chester disease by patient and site of involvement: Results in eight patients. Arthritis Rheum 2006; 54(10): 3330−6.

Ota M, Sakamoto M, Sato K, Yoshida Y, Funakubo AY, Akiyama Y, et al. Immunopathological analysis of Erdheim-Chester dis-ease with massive ascites. Intern Med 2012; 51(19): 2825−30.

Gupta A, Aman K, Al-Babtain M, Al-Wazzan H, Morouf R. Mul-tisystem Erdheim-Chester disease; a unique presentation with liver and axial skeletal involvement. Br J Haematol 2007; 138(3): 280.

Pan A, Doyle T, Schlup M, Lubcke R, Schultz M. Unusual manife-station of Erdheim-Chester disease. BMC Gastroenterol 2011; 11: 77.

Gundling F, Nerlich A, Heitland W, Schepp W. Biliary manifesta-tion of Erdheim-Chester disease mimicking Klatskin's carci-noma. Am J Gastroenterol 2007; 102(2): 452−4.

Ivan D, Neto A, Lemos L, Gupta A. Erdheim-Chester disease: A unique presentation with liver involvement and vertebral os-teolytic lesions. Arch Pathol Lab Med 2003; 127(8): e337−9.

Tevlin R, Cahalane AM, Larkin JO, Treacy A, Connaghan D, Winter DC. Gastrointestinal Erdheim-Chester disease. Ir Med J 2014; 107(5): 149−50.

Vermeiren P, Van Laecke S, Cuvelier C, De Loose D, Vanholder R. Progressive dysphagia caused by Erdheim-Chester disease. QJM 2014; 107(12): 1015–7.

Ben-Yaakov G, Munteanu D, Sztarkier I, Fich A, Schwartz D. Erd-heim Chester: A rare disease with unique endoscopic features. World J Gastroenterol 2014; 20(25): 8309−11.

Haroche J, Amoura Z, Trad SG, Wechsler B, Cluzel P, Grenier PA, et al: Variability in the efficacy of interferon-alpha in Erdheim-Chester disease by patient and site of involvement: result in eight patient. Arthritis Rheum 2006; 54(10): 3330–6.

Haroche J, Amoura Z, Charlotte F, Salvatierra J, Wechsler B, Graux C, et al. Imatinib mesylate for platelet-derived growth factor receptor-beta-positive Erdheim-Chester histiocytosis. Blood 2008; 111(11): 5413−5.

Boissel N, Wechsler B, Leblond V. Treatment of refractory Erd-heim-Chester disease with double autologous hematopoietic stem-cell transplantation. Ann Intern Med 2001; 135(9): 844−5.

Srikulmontree T, Massey DH, Roberts NW. Treatment of skeletal Erdheim-Chester disease with zoledronic acid: Case report and proposed mechanisms of action. Rheumatol Int 2007; 27(3): 303−7.

Aouba A, Georgin-Lavialle S, Pagnoux C, Martin SN, Renand A, Galateau-Salle F, et al. Rationale and efficacy of interleukin-1 targeting in Erdheim-Chester disease. Blood 2010; 116(20): 4070−6.

Miller RC, Villà S, Kamer S, Pasquier D, Poortmans P, Micke O, et al. Palliative treatment of Erdheim-Chester disease with radio-therapy: A Rare Cancer Network study. Radiother Oncol 2006; 80(3): 323−6.

Gianfreda D, Nicastro M, Galetti M, Alberici F, Corradi D, Becchi G, et al. Sirolimus plus prednisone for Erdheim-Chester disease: An open-label trial. Blood 2015; 126(10): 1163−71.

Dagna L, Corti A, Langheim S, Guglielmi B, De Cobelli F, Doglioni C, et al. Tumor necrosis factor α as a master regulator of in-flammation in Erdheim-Chester disease: Rationale for the treatment of patients with infliximab. J Clin Oncol 2012; 30(28): e286−90.

Tzoulis C, Schwarzlmüller T, Gjerde IO, Søfteland E, Neckelmann G, Biermann M, et al. Excellent response of intramedullary Erd-heim-Chester disease to vemurafenib: A case report. BMC Res Notes 2015, 8: 171.

Tran T, Pariente D, Guitton C, Delwail A, Barat-Houari M, Meinzer U. Treatment of Erdheim-Chester disease with canakinumab. Rheumatology (Oxford) 2014; 53(12): 2312−4.

Cives M, Simone V, Rizzo FM, Dicuonzo F, Cristallo Lacalamita M, Ingravallo G, et al. Erdheim-Chester disease: A systematic re-view. Crit Rev Oncol Hematol 2015; 95(1): 1−11.