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Mast cell-related disorders presenting with Kounis syndrome

2012; Elsevier BV; Volume: 161; Issue: 1 Linguagem: Inglês

10.1016/j.ijcard.2012.06.041

1874-1754

David González‐de‐Olano, Almudena Matito, Paula Sánchez-López, Laura Sánchez‐Muñoz, José Mário Morgado, Cristina Teodósio, María Jara‐Acevedo, Andrés C. García‐Montero, Alberto Órfão, Luís Escribano, Nicholas G. Kounis, Iván Álvarez‐Twöse,

Drug-Induced Adverse Reactions

Systemic mastocytosis (SM) is a clinically heterogeneous group of disorders characterized by the accumulation of clonal MC in bone marrow (BM), and frequently also in other organs including the skin and/or the gastrointestinal tract. Currently, the clonal nature of the disease can be clearly established in most SM patients through the demonstration of somatic activating mutations involving the tyrosin-kinase regulatory domain of the Kit receptor [ [1] Garcia-Montero A.C. Jara-Acevedo M. Teodosio C. et al. KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients. Blood. 2006; 108: 2366-2372 Crossref PubMed Scopus (385) Google Scholar ]. In most cases, such KIT mutations lead to continuously ligand-independent autophosphorylation of the receptor, and initiation of downstream signalling events resulting in the release of MC-mediators. In recent years, detailed clinical, biological and molecular characterization of MC activation syndromes (MCAS) not fulfilling enough criteria for SM has been made [ [2] Alvarez-Twose I. Gonzalez de Olano D. Sanchez-Munoz L. et al. Clinical, biological, and molecular characteristics of clonal mast cell disorders presenting with systemic mast cell activation symptoms. J Allergy Clin Immunol. 2010; 125: 1269-1278 Abstract Full Text Full Text PDF PubMed Scopus (217) Google Scholar ]. Based on the presence or absence of KIT mutations, MCAS are currently classified into clonal MCAS (c-MCAS) and non-clonal MCAS (nc-MCAS). Unlike BM MC from SM patients, in which aberrant CD25 expression and cytomorphological abnormalities, together with KIT mutations, are usually detected [ [3] Morgado J.M. Sanchez-Munoz L. Teodosio C.G. et al. Immunophenotyping in systemic mastocytosis diagnosis: 'CD25 positive' alone is more informative than the 'CD25 and/or CD2' WHO criterion. Mod Pathol. 2012; 25: 516-521 Crossref PubMed Scopus (54) Google Scholar ], BM MC from both c-MCAS and nc-MCAS cases frequently show a normal morphological appearance and/or immunophenotype [ [4] Valent P. Akin C. Arock M. et al. Definitions, criteria and global classification of mast cell disorders with special reference to mast cell activation syndromes: a consensus proposal. Int Arch Allergy Immunol. 2011; 157: 215-225 Crossref PubMed Scopus (417) Google Scholar ]. Patients with SM and MCAS suffer from systemic, usually recurrent symptoms, which are attributable to the release of MC mediators; Noteworthy, vasoconstriction-related features, such as increase of blood pressure, can be occasionally observed in a few patients during acute MC activation episodes [ [5] Brockow K. Jofer C. Behrendt H. Ring J. Anaphylaxis in patients with mastocytosis: a study on history, clinical features and risk factors in 120 patients. Allergy. 2008; 63: 226-232 Crossref PubMed Scopus (375) Google Scholar ].