[Systemic mastocytosis--definition of an internal disease].
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.
Homann
Jürgen
J
Abteilung für Innere Medizin, Evangelisches Waldkrankenhaus, Bonn, Germany.
Kolck
Ulrich W
UW
Ehnes
Andreas
A
Frieling
Thomas
T
Raithel
Martin
M
Molderings
Gerhard J
GJ
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
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
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