[Erdheim-Chester disease : An important differential diagnosis and its main symptoms].
Morbus Erdheim-Chester : Eine wichtige Differenzialdiagnose und ihre Leitsymptome.
BRAF
Coated aorta
Histiocytosis
Ormond’s disease
Retroperitoneal fibrosis
Journal
Zeitschrift fur Rheumatologie
ISSN: 1435-1250
Titre abrégé: Z Rheumatol
Pays: Germany
ID NLM: 0414162
Informations de publication
Date de publication:
Feb 2019
Feb 2019
Historique:
pubmed:
16
11
2018
medline:
3
10
2019
entrez:
16
11
2018
Statut:
ppublish
Résumé
During the last 3 years 4 patients were admitted to this hospital with a wide variety of different symptoms, in whom Erdheim-Chester disease (ECD) was diagnosed via different diagnostic pathways. Based on four clinical cases of ECD and using additional information from the literature, this article presents the symptoms of ECD. Furthermore, similarities and differences in comparison to important rheumatological differential diagnoses are presented. The ECD is a multi-organ orphan disease. Typical for the disease are long bone involvement, periarterial inflammation especially of the aorta, retroperitoneal and perirenal fibrosis with so-called hairy kidneys in abdominal computed tomography (CT) scans. Treatment is increasingly directed towards the presence of a BRAF mutation, which enables targeted and effective treatment with BRAF inhibitors. The ECD is a rare differential diagnosis to rheumatic diseases that causes various and often nonspecific symptoms. Due to modern diagnostic methods with imaging procedures and biopsies it is possible to establish a precise diagnosis and provide a targeted and effective treatment.
Sections du résumé
BACKGROUND
BACKGROUND
During the last 3 years 4 patients were admitted to this hospital with a wide variety of different symptoms, in whom Erdheim-Chester disease (ECD) was diagnosed via different diagnostic pathways.
OBJECTIVE
OBJECTIVE
Based on four clinical cases of ECD and using additional information from the literature, this article presents the symptoms of ECD. Furthermore, similarities and differences in comparison to important rheumatological differential diagnoses are presented.
RESULTS
RESULTS
The ECD is a multi-organ orphan disease. Typical for the disease are long bone involvement, periarterial inflammation especially of the aorta, retroperitoneal and perirenal fibrosis with so-called hairy kidneys in abdominal computed tomography (CT) scans. Treatment is increasingly directed towards the presence of a BRAF mutation, which enables targeted and effective treatment with BRAF inhibitors.
CONCLUSION
CONCLUSIONS
The ECD is a rare differential diagnosis to rheumatic diseases that causes various and often nonspecific symptoms. Due to modern diagnostic methods with imaging procedures and biopsies it is possible to establish a precise diagnosis and provide a targeted and effective treatment.
Identifiants
pubmed: 30430236
doi: 10.1007/s00393-018-0566-7
pii: 10.1007/s00393-018-0566-7
doi:
Types de publication
Journal Article
Review
Langues
ger
Sous-ensembles de citation
IM
Pagination
66-71Références
Am J Nephrol. 2001 Jul-Aug;21(4):315-7
pubmed: 11509804
AJR Am J Roentgenol. 2004 Nov;183(5):1253-60
pubmed: 15505288
Arch Phys Med Rehabil. 2005 May;86(5):1053-7
pubmed: 15895357
Clin Infect Dis. 2005 Oct 1;41(7):e72-5
pubmed: 16142654
J Am Acad Dermatol. 2007 Dec;57(6):1031-45
pubmed: 17485142
Presse Med. 2007 Nov;36(11 Pt 2):1663-8
pubmed: 17618076
Semin Arthritis Rheum. 2008 Feb;37(4):207-22
pubmed: 17765951
Blood. 2012 Sep 27;120(13):2700-3
pubmed: 22879539
Ann Rheum Dis. 2013 Oct;72(10):1691-5
pubmed: 23396641
Curr Rheumatol Rep. 2014 Apr;16(4):412
pubmed: 24532298
Blood. 2014 Jul 24;124(4):483-92
pubmed: 24850756
J Oncol Pharm Pract. 2016 Feb;22(1):179-85
pubmed: 25013186
Insights Imaging. 2014 Aug;5(4):473-82
pubmed: 25017251
Orphanet J Rare Dis. 2014 Jul 16;9:110
pubmed: 25026959
Blood. 2016 Jun 2;127(22):2672-81
pubmed: 26966089
Medicine (Baltimore). 2016 May;95(21):e3625
pubmed: 27227923
Postgrad Med J. 2016 Nov;92(1093):687-688
pubmed: 27234207
JAMA Oncol. 2017 Sep 1;3(9):1253-1256
pubmed: 28253394
Blood Adv. 2017 Feb 14;1(6):357-366
pubmed: 28553668
Rev Med Suisse. 2017 Apr 5;13(557):743-747
pubmed: 28722363
Curr Opin Ophthalmol. 2017 Nov;28(6):617-622
pubmed: 28858963
J Pathol Transl Med. 2018 May;52(3):183-190
pubmed: 29281781
Ann Rheum Dis. 2018 Sep;77(9):1387-1390
pubmed: 29363511
Am J Hematol. 2018 May;93(5):E114-E117
pubmed: 29396850
Clin Exp Rheumatol. 2018 Mar-Apr;36 Suppl 111(2):176
pubmed: 29652657
N Engl J Med. 1966 Feb 17;274(7):359-68
pubmed: 5903120
Medicine (Baltimore). 1996 May;75(3):157-69
pubmed: 8965684