erdheim chester disease - Servizio Sanitario della Toscana

Allegato B.6
PROPOSTA DI INSERIMENTO DI MALATTIA RARA:
ERDHEIM CHESTER DISEASE
Scheda allegato A.1
ICD9-CM: 202.30 (istiocitosi maligna, sito non specificato, organi solidi o siti extranodali) ;
OMIM: #602247 (xanthomatosis, susceptibility to)
Malattia e/o Gruppo: Malattie afferenti al gruppo:
ERDHEIM CHESTER DISEASE
Principali caratteristiche cliniche della Malattia
La malattia di Erdheim Chester è una rara forma di istiocitosi a cellule di tipo non Langerhans
la cui eziologia non è ancora conosciuta. Colpisce soggetti dopo i 50 anni senza predilezione
di sesso. Descritta per la prima volta nel 1930 come un nuovo tipo di malattia
lipogranulomatosa, comunemente conduce a morte per distress respiratorio, fibrosi polmonare
massiva, scompenso cardiaco.
Istopatologia: infiltrato di cellule mononucleate costituite da adipociti, istiociti schiumosi
CD68+ specialmente a livello delle ossa lunghe degli arti inferiori, sistema nervoso centrale,
retroperitoneo, polmone, cuore, fegato, milza, cute, orbite.
Diagnosi: 1) radiologica: i segni patognomonici sono la osteosclerosi bilaterale e simmetrica a
livello metafisario ed epifisario; 2) scintigrafia (ipercaptazione del radiofarmaco a livello
delle ossa lunghe); 3) PET con 18F-FDG; 4) TC (osteosclerosi dell’osso trabecolare, lacune
ossee) e RMN (rimaneggiamento aspecifico del midollo osseo); 5) istologia ed
immunoistochimica (CD68+, anti CD1a- , proteina S100)
Clinica: 1) manifestazioni scheletriche: lesioni ossee con dolore osseo diffuso; 2)
manifestazioni extrascheletriche (60%): febbre, calo ponderale, astenia, esoftalmo, diabete
insipido, disuria, dolore addominale, uropatia ostruttiva conseguente al coinvolgimento
retroperitoneale, coinvolgimento linfonodale, testicolare e tiroideo; 3) manifestazioni
neurologiche: atassia, paresi, diabete insipido.
La sintomatologia clinica è variabile da una infiltrazione tissutale asintomatica ad una forma
fulminante di “multisystem organ failure”.
Diagnosi differenziale: istiocitosi a cellule di Langerhans, neurosarcoidosi, ipofisite, patologie
metaboliche e neoplasie.
La prognosi dipende dal dall’estensione della malattia e dalla distribuzione delle
localizzazioni extrascheletriche. Le cause più comuni di morte sono distress respiratorio,
fibrosi polmonare massiva, scompenso cardiaco.
Terapia: corticosteroidi, zoledronato, chemioterapia (interferone alfa, cladribina), chirurgia,
radioterapia.
Sinonimi: xantomatosi, istiocitosi
Epidemiologia: circa 70 casi sono stati finora segnalati in letteratura
Bibliografia:
1: Sivak-Callcott JA, Rootman J, Rasmussen SL, Nugent RA, White VA, Paridaens D, Currie Z, Rose G, Clark
B, McNab AA, Buffam FV, Neigel JM, Kazim M. Adult xanthogranulomatous disease of the orbit and ocular
adnexa: new immunohistochemical findings and clinical review.
Br J Ophthalmol. 2006 May;90(5):602-8. Review. PMID: 16622091 [PubMed - indexed for MEDLINE]
2: Haroche J, Amoura Z, Trad SG, Wechsler B, Cluzel P, Grenier PA, Piette JC. Variability in the efficacy of
interferon-alpha in Erdheim-Chester disease by patient and site of involvement: results in eight patients. Arthritis
Rheum. 2006 Oct;54(10):3330-6. PMID: 17009306 [PubMed - indexed for MEDLINE]
3: Srikulmontree T, Massey HD, Roberts WN. Treatment of skeletal Erdheim-Chester disease with zoledronic
acid: case report and proposed mechanisms of action. Rheumatol Int. 2007 Jan;27(3):303-7. Epub 2006 Aug 25.
PMID: 16932956 [PubMed - in process]
4: Pickhardt PJ, Bhalla S. Unusual nonneoplastic peritoneal and subperitoneal conditions: CT findings.
Radiographics. 2005 May-Jun;25(3):719-30. Review. PMID: 15888621 [PubMed - indexed for MEDLINE]
5: Allen TC, Chevez-Barrios P, Shetlar DJ, Cagle PT. Pulmonary and ophthalmic involvement with ErdheimChester disease: a case report and review of the literature. Arch Pathol Lab Med. 2004 Dec;128(12):1428-31.
Review. PMID: 15578889 [PubMed - indexed for MEDLINE]
6: Haroche J, Amoura Z, Dion E, Wechsler B, Costedoat-Chalumeau N, Cacoub P, Isnard R, Genereau T,
Wechsler J, Weber N, Graef C, Cluzel P, Grenier P, Piette JC. Cardiovascular involvement, an overlooked
feature of Erdheim-Chester disease: report of 6 new cases and a literature review. Medicine (Baltimore). 2004
Nov;83(6):371-92. Review. PMID: 15525849 [PubMed - indexed for MEDLINE]
7: Sheu SY, Wenzel RR, Kersting C, Merten R, Otterbach F, Schmid KW. Erdheim-Chester disease: case report
with multisystemic manifestations including testes, thyroid, and lymph nodes, and a review of literature. J Clin
Pathol. 2004 Nov;57(11):1225-8. Review. PMID: 15509691 [PubMed - indexed for MEDLINE]
8: Myra C, Sloper L, Tighe PJ, McIntosh RS, Stevens SE, Gregson RH, Sokal M, Haynes AP, Powell RJ.
Treatment of Erdheim-Chester disease with cladribine: a rational approach. Br J Ophthalmol. 2004
Jun;88(6):844-7. Review. PMID: 15148234 [PubMed - indexed for MEDLINE]
9: Weidauer S, von Stuckrad-Barre S, Dettmann E, Zanella FE, Lanfermann H. Cerebral Erdheim-Chester
disease: case report and review of the literature. Neuroradiology. 2003 Apr;45(4):241-5. Epub 2003 Feb 21.
Review. PMID: 12687308 [PubMed - indexed for MEDLINE]
10: Mahnel R, Tan KH, Fahlbusch R, Volk B, Ludecke D, Nagel HG, Jaursch-Hancke C.
Problems in differential diagnosis of non Langerhans cell histiocytosis with pituitary involvement: case report
and review of literature. Endocr Pathol. 2002 Winter;13(4):361-8. Review. PMID: 12665654 [PubMed - indexed
for MEDLINE]
11: Gupta A, Kelly B, McGuigan JE. Erdheim-Chester disease with prominent pericardial involvement: clinical,
radiologic, and histologic findings. Am J Med Sci. 2002 Aug;324(2):96-100. Review. PMID: 12186113
[PubMed - indexed for MEDLINE]
12: Oweity T, Scheithauer BW, Ching HS, Lei C, Wong KP. Multiple system Erdheim-Chester disease with
massive hypothalamic-sellar involvement and hypopituitarism. J Neurosurg. 2002 Feb;96(2):344-51. Review.
PMID: 11838810 [PubMed - indexed for MEDLINE]
13: Breuil V, Brocq O, Pellegrino C, Grimaud A, Euller-Ziegler L. Erdheim-Chester disease: typical
radiological bone features for a rare xanthogranulomatosis. Ann Rheum Dis. 2002 Mar;61(3):199-200. Review.
PMID: 11830422 [PubMed - indexed for MEDLINE]
14: Murray D, Marshall M, England E, Mander J, Chakera TM. Erdheim-chester disease.
Clin Radiol. 2001 Jun;56(6):481-4. Review. PMID: 11428798 [PubMed - indexed for MEDLINE]
15: Petrikowski CG, McGaw WT. Erdheim-Chester disease of the jaws: literature review and case report. Oral
Surg Oral Med Oral Pathol Oral Radiol Endod. 2000 Sep;90(3):389-98. Review.
PMID: 10982964 [PubMed - indexed for MEDLINE]
16: Kenn W, Stabler A, Zachoval R, Zietz C, Raum W, Wittenberg G. Erdheim-Chester disease: a case report
and literature overview. Eur Radiol. 1999;9(1):153-8. Review. PMID: 9933400 [PubMed - indexed for
MEDLINE]
17: Adle-Biassette H, Chetritt J, Bergemer-Fouquet AM, Wechsler J, Mussini JM, Gray F.
Pathology of the central nervous system in Chester-Erdheim disease: report of three cases.
J Neuropathol Exp Neurol. 1997 Nov;56(11):1207-16. Review. PMID: 9370231 [PubMed - indexed for
MEDLINE]
18: Gomez C, Diard F, Chateil JF, Moinard M, Dousset V, Rivel J. Imaging of Erdheim-Chester disease J
Radiol. 1996 Dec;77(12):1213-21. Review. PMID: 9033881 [PubMed - indexed for MEDLINE]
19: Sandrock D, Merino MJ, Scheffknecht BH, Neumann RD. Scintigraphic findings and follow up in ErdheimChester disease. Eur J Nucl Med. 1990;16(1):55-60. Review.
PMID: 2407535 [PubMed - indexed for MEDLINE]
Scheda allegato A.2
PATOLOGIA: ERDHEIM CHESTER DISEASE
STRUTTURA PROPONENTE: Dip. Medicina Interna Scienze Endocrino
Metaboliche e Biochimica
DIRETTORE: Prof. Ranuccio Nuti
MEDICO RESPONSABILE: Prof. Giuseppe Martini
AMBITI DI DIAGNOSI E CURA:
1) CRITICITÀ DIAGNOSTICHE:
Presenza di :
SERVIZIO DI RADIOLOGIA PER TC E RMN:
SI
NO
SERVIZIO DI MEDICINA NUCLEARE:
SI
NO
POSSIBILITA’ DI ESEGUIRE PET:
SI
NO
SI
SI
NO
NO
Presenza di :
DEGENZA ORDINARIA:
SI
NO
DAY HOSPITAL:
SI
NO
CHIRURGIA GENERALE:
SI
NO
SERVIZIO DI ONCOLOGIA:
SI
NO
RADIOTERAPIA
SI
NO
LABORATORIO PER:
a) IMMUNOISTOCHIMICA
b) ISTOLOGIA
2) CRITICITÀ TERAPEUTICHE:
INFORMAZIONI RELATIVE AL CENTRO PROPONENTE:
1) NUMERO DI CASI (DELLA PATOLOGIA IN OGGETTO) GESTITI
CLINICAMENTE (Ambulatorio, DH, Reparto) NEGLI ULTIMI 5 ANNI: 1
2) ELENCO DELLE PUBBLICAZIONI SULLA PATOLOGIA IN ESAME
NEGLI ULTIMI 5 ANNI:
1: Sivak-Callcott JA, Rootman J, Rasmussen SL, Nugent RA, White VA, Paridaens D, Currie Z, Rose G,
Clark B, McNab AA, Buffam FV, Neigel JM, Kazim M. Adult xanthogranulomatous disease of the orbit and
ocular adnexa: new immunohistochemical findings and clinical review.
Br J Ophthalmol. 2006 May;90(5):602-8. Review. PMID: 16622091 [PubMed - indexed for MEDLINE]
2: Haroche J, Amoura Z, Trad SG, Wechsler B, Cluzel P, Grenier PA, Piette JC. Variability in the efficacy of
interferon-alpha in Erdheim-Chester disease by patient and site of involvement: results in eight patients.
Arthritis Rheum. 2006 Oct;54(10):3330-6. PMID: 17009306 [PubMed - indexed for MEDLINE]
3: Srikulmontree T, Massey HD, Roberts WN. Treatment of skeletal Erdheim-Chester disease with zoledronic
acid: case report and proposed mechanisms of action. Rheumatol Int. 2007 Jan;27(3):303-7. Epub 2006 Aug
25. PMID: 16932956 [PubMed - in process]
4: Pickhardt PJ, Bhalla S. Unusual nonneoplastic peritoneal and subperitoneal conditions: CT findings.
Radiographics. 2005 May-Jun;25(3):719-30. Review. PMID: 15888621 [PubMed - indexed for MEDLINE]
5: Allen TC, Chevez-Barrios P, Shetlar DJ, Cagle PT. Pulmonary and ophthalmic involvement with ErdheimChester disease: a case report and review of the literature. Arch Pathol Lab Med. 2004 Dec;128(12):1428-31.
Review. PMID: 15578889 [PubMed - indexed for MEDLINE]
6: Haroche J, Amoura Z, Dion E, Wechsler B, Costedoat-Chalumeau N, Cacoub P, Isnard R, Genereau T,
Wechsler J, Weber N, Graef C, Cluzel P, Grenier P, Piette JC. Cardiovascular involvement, an overlooked
feature of Erdheim-Chester disease: report of 6 new cases and a literature review. Medicine (Baltimore). 2004
Nov;83(6):371-92. Review. PMID: 15525849 [PubMed - indexed for MEDLINE]
7: Sheu SY, Wenzel RR, Kersting C, Merten R, Otterbach F, Schmid KW. Erdheim-Chester disease: case
report with multisystemic manifestations including testes, thyroid, and lymph nodes, and a review of literature.
J Clin Pathol. 2004 Nov;57(11):1225-8. Review. PMID: 15509691 [PubMed - indexed for MEDLINE]
8: Myra C, Sloper L, Tighe PJ, McIntosh RS, Stevens SE, Gregson RH, Sokal M, Haynes AP, Powell RJ.
Treatment of Erdheim-Chester disease with cladribine: a rational approach. Br J Ophthalmol. 2004
Jun;88(6):844-7. Review. PMID: 15148234 [PubMed - indexed for MEDLINE]
9: Weidauer S, von Stuckrad-Barre S, Dettmann E, Zanella FE, Lanfermann H. Cerebral Erdheim-Chester
disease: case report and review of the literature. Neuroradiology. 2003 Apr;45(4):241-5. Epub 2003 Feb 21.
Review. PMID: 12687308 [PubMed - indexed for MEDLINE]