RESUMEN
BACKGROUND: Hypereosinophilic syndrome (HES) is defined as a high eosinophilic granulocyte count in peripheral blood and other tissues. It can be associated with clonal and non-clonal haematological neoplastic diseases. METHODS: Here we present a patient with a 27-year history of pruritus, urticarial lesions, recurrent diarrhoea, depression and a monoclonal gammopathy in the setting of HES. RESULTS: The patient presented with erythemas, disseminated plaques, papules and scaling. Eosinophils continuously increased from 14% in 2002 to 65% in 2011. Tryptase levels were >20 µg/l. Skin biopsies were unspecific. In the bone marrow biopsy 30% of eosinophilic differentiated precursors and 10% plasma cells were noticed. Skin and bone marrow initially not indicative for mast cell proliferation were investigated for clonal mast cell proliferation. By immunostaining, single tryptase-, CD117c- and CD25-positive mast cells were detected not only in bone marrow, but also in the skin. Molecular investigations revealed a D816V exon 17 mutation of the c-KIT gene in bone marrow and skin biopsies. CONCLUSION: In this patient HES was associated with high tryptase levels with 2 underlying clonal cell populations - IgGκ-positive plasma cells and single clonal mast cells with a high percentage of eosinophils in the bone marrow with symptoms of a clonal mast cell activation syndrome. Because of 3 minor criteria the patient finally fulfilled the criteria for systemic mastocytosis (according to the WHO). Patients with high tryptase levels and symptoms of mast cell activation syndrome should be investigated for clonal mast cell disease even in the absence of increased mast cells in the skin and bone marrow.
Asunto(s)
Médula Ósea/patología , Síndrome Hipereosinofílico/patología , Mastocitos/patología , Mastocitosis Sistémica/patología , Piel/patología , Anciano , Biopsia , Proliferación Celular , Depresión/etiología , Diarrea/etiología , Eritema/etiología , Femenino , Humanos , Síndrome Hipereosinofílico/sangre , Síndrome Hipereosinofílico/complicaciones , Subunidad alfa del Receptor de Interleucina-2/análisis , Mastocitos/química , Mastocitosis Sistémica/complicaciones , Mutación , Paraproteinemias/etiología , Proteínas Proto-Oncogénicas c-kit/análisis , Proteínas Proto-Oncogénicas c-kit/genética , Prurigo/complicaciones , Triptasas/análisis , Triptasas/sangreAsunto(s)
Anemia Hemolítica Autoinmune/cirugía , Trasplante de Células Madre de Sangre del Cordón Umbilical/métodos , Angioedema Hereditario Tipos I y II/cirugía , Trombocitopenia/cirugía , Anemia Hemolítica Autoinmune/complicaciones , Niño , Angioedema Hereditario Tipos I y II/complicaciones , Humanos , Masculino , Trombocitopenia/complicaciones , Trasplante HomólogoRESUMEN
BACKGROUND: Detection of specific IgE for Hymenoptera venoms and skin tests are well established diagnostic tools for the diagnosis of insect venom hypersensitivity. The aim of our study was to analyze the effect of total IgE levels on the outcome of generalized anaphylactic reactions after a Hymenoptera sting. METHODS: Two hundred and twenty patients allergic to bee, wasp, or European hornet venom were included in the study. Their specific and total IgE levels, serum tryptase levels, skin tests, and sting history were analyzed. RESULTS: In patients with mild reactions (grade I, generalized skin symptoms) we observed higher total IgE levels (248.0 kU/l) compared to patients with moderate reactions (grade II, moderate pulmonary, cardiovascular, or gastrointestinal symptoms; 75.2 kU/l) and severe reactions (grade III, bronchoconstriction, emesis, anaphylactic shock, or loss of consciousness; 56.5 kU/l; P < 0.001). Accordingly, 25% of the patients with low levels of total IgE (<50 kU/l), but no individual with total IgE levels >250 kU/l, developed loss of consciousness (P = 0.001). Additionally, specific IgE levels were related to total IgE levels: Specific IgE levels increased from 1.6 to 7.1 kU/l in patients with low (<50 kU/l) and high (>250 kU/l) total IgE levels, respectively (P < 0.001). Specific IgE levels correlated inversely to the clinical reaction grades, however, this trend was not statistically significant (P = 0.083). CONCLUSION: Patients with Hymenoptera venom allergy and high levels (>250 kU/l) of total IgE, predominantly develop grade I and grade II reactions and appear to be protected from grade III reactions. However, this hypothesis should be confirmed by extended studies with sting challenges.