title: Anaphylaxis as a clinical manifestation of clonal mast cell disorders.
abstract: Clonal mast cell disorders comprise a heterogeneous group of disorders characterized by the presence of gain of function KIT mutations and a constitutively altered activation-associated mast cell immunophenotype frequently associated with clinical manifestations related to the release of mast cells mediators. These disorders do not always fulfil the World Health Organization (WHO)-proposed criteria for mastocytosis, particularly when low-sensitive diagnostic approaches are performed. Anaphylaxis is a frequent presentation of clonal mast cell disorders, particularly in mastocytosis patients without typical skin lesions. The presence of cardiovascular symptoms, e.g., hypotension, occurring after a hymenoptera sting or spontaneously in the absence of cutaneous manifestations such as urticaria is characteristic and differs from the presentation of anaphylaxis in the general population without mastocytosis.
authors.affiliation: Instituto de Estudios de Mastocitosis de Castilla-La Mancha, Hospital Virgen del Valle, Toledo, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Matito
authors.forename: I
authors.initials: I
authors.lastname: Alvarez-Twose
authors.forename: J M
authors.initials: JM
authors.lastname: Morgado
authors.forename: L
authors.initials: L
authors.lastname: Sánchez-Muñoz
authors.forename: A
authors.initials: A
authors.lastname: Orfao
authors.forename: L
authors.initials: L
authors.lastname: Escribano
mesh_terms: D000707:Anaphylaxis / Q000235:genetics / Q000276:immunology* / Q000628:therapy; D006801:Humans; D008407:Mast Cells / Q000276:immunology* / Q000473:pathology; D008415:Mastocytosis / Q000150:complications / Q000276:immunology*; D016896:Treatment Outcome