title: [Systemic mastocytosis--definition of an internal disease].
abstract: Systemic mastocytosis comprises disorders characterized by an accumulation of genetically altered mast cells in all organs and tissues due to an increased proliferation rate and reduced apoptosis of those pathologic mast cells. Release of their mediators can effectively influence organ function and can lead to systemic effects without inducing traces in routinely used laboratory parameters or imaging methods. In most cases, little invasive investigations allow diagnosing the disease and, hence, an appropriate therapy consisting of a basic medication with antihistamine and mast cell membrane-stabilizing compounds that should be supplemented, if required, by a medication adapted to individual symptoms, can be initiated. Because of the probably high prevalence of the disorder, systemic mastocytosis should be considered as a differential diagnosis in particular in the case of chronic gastrointestinal complaints such as abdominal pain/discomfort possibly associated with diarrhea, at an early stage.
authors.affiliation: Abteilung für Innere Medizin, Evangelisches Waldkrankenhaus, Bonn, Germany.
authors.forename: Jürgen
authors.initials: J
authors.lastname: Homann
authors.forename: Ulrich W
authors.initials: UW
authors.lastname: Kolck
authors.forename: Andreas
authors.initials: A
authors.lastname: Ehnes
authors.forename: Thomas
authors.initials: T
authors.lastname: Frieling
authors.forename: Martin
authors.initials: M
authors.lastname: Raithel
authors.forename: Gerhard J
authors.initials: GJ
authors.lastname: Molderings
mesh_terms: D000465:Algorithms; D017209:Apoptosis / Q000502:physiology; D001205:Ascorbic Acid / Q000008:administration & dosage; D001706:Biopsy; D001853:Bone Marrow / Q000473:pathology; D003062:Codon / Q000235:genetics; D003131:Combined Modality Therapy; D004205:Cromolyn Sodium / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D003692:Delayed-Action Preparations; D003937:Diagnosis, Differential; D004359:Drug Therapy, Combination; D005767:Gastrointestinal Diseases / Q000503:physiopathology; D006634:Histamine H1 Antagonists / Q000627:therapeutic use; D006635:Histamine H2 Antagonists / Q000627:therapeutic use; D006801:Humans; D007665:Ketotifen / Q000627:therapeutic use; D008407:Mast Cells / Q000502:physiology; D008415:Mastocytosis / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D010641:Phenotype; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics
chemical_list: D003062:Codon; D003692:Delayed-Action Preparations; D006634:Histamine H1 Antagonists; D006635:Histamine H2 Antagonists; D019009:Proto-Oncogene Proteins c-kit; D001205:Ascorbic Acid; D004205:Cromolyn Sodium; D007665:Ketotifen
references.citation: Nat Rev Immunol. 2005 Jul;5(7):560-70
references.pmid: 15999095
references.citation: Leuk Res. 2001 Jul;25(7):603-25
references.pmid: 11377686
references.citation: Annu Rev Immunol. 2005;23:749-86
references.pmid: 15771585
references.citation: PLoS One. 2008 May 28;3(5):e2266
references.pmid: 18509466
references.citation: Pathologe. 2001 Mar;22(2):132-40
references.pmid: 11321729
references.citation: Int J Hematol. 2008 Dec;88(5):483-488
references.pmid: 19034614
references.citation: Dtsch Med Wochenschr. 2006 Jul 14;131(28-29):1616-21
references.pmid: 16823715
references.citation: Liver Int. 2009 Feb;29(2):181-6
references.pmid: 18662284
references.citation: Scand J Gastroenterol. 2007 Sep;42(9):1045-53
references.pmid: 17710669
references.citation: Blood. 2009 Jun 4;113(23):5727-36
references.pmid: 19363219
references.citation: J Allergy Clin Immunol. 2009 Sep;124(3):514-21
references.pmid: 19541349
references.citation: Acta Haematol. 2005;114(1):61-9
references.pmid: 15995326
references.citation: Best Pract Res Clin Haematol. 2006;19(3):535-69
references.pmid: 16781488
references.citation: Immunol Rev. 2007 Jun;217:168-85
references.pmid: 17498059
references.citation: World J Gastroenterol. 2004 Feb 1;10(3):309-18
references.pmid: 14760748
references.citation: Neurogastroenterol Motil. 2006 Jan;18(1):6-17
references.pmid: 16371078
references.citation: J Invest Dermatol. 2010 Mar;130(3):804-15
references.pmid: 19865100
references.citation: Neth J Med. 2005 Jul-Aug;63(7):244-9
references.pmid: 16093574
references.citation: Dtsch Med Wochenschr. 2006 Sep 22;131(38):2095-100
references.pmid: 16981082
references.citation: Eur J Clin Invest. 2007 Jun;37(6):435-53
references.pmid: 17537151
references.citation: Tohoku J Exp Med. 2009 Mar;217(3):185-91
references.pmid: 19282653
references.citation: Bone Marrow Transplant. 2006 Feb;37(4):353-8
references.pmid: 16400343
references.citation: Scand J Gastroenterol. 2005 Feb;40(2):129-40
references.pmid: 15764142
references.citation: Am J Clin Pathol. 2004 Feb;121(2):264-7
references.pmid: 14983941
references.citation: Int Arch Allergy Immunol. 2002 Feb;127(2):147-52
references.pmid: 11919427
references.citation: Inflamm Allergy Drug Targets. 2006 Jan;5(1):61-77
references.pmid: 16613565
references.citation: J Allergy Clin Immunol. 2009 Mar;123(3):680-6
references.pmid: 19135713
references.citation: Pediatr Blood Cancer. 2009 Oct;53(4):629-34
references.pmid: 19526526
references.citation: Mod Pathol. 2009 Jan;22(1):50-7
references.pmid: 19116630