Clinical Approach to Mast Cell Activation Syndrome: A Practical Overview.

The diagnosis of mast cell activation syndrome (MCAS) is defined by 3 criteria: (1) typical clinical signs and symptoms of acute, recurrent (episodic), and systemic mast cell activation (MCA); (2) increase in tryptase level to >20% + 2 ng/mL within 1-4 hours after onset of the acute crisis; and (3) response of MCA symptoms to antimediator therapy. Classification of MCAS requires highly sensitive and specific methodological approaches for the assessment of clonal bone marrow mast cells at low frequencies. The Spanish Network on Mastocytosis score has been used successfully as a predictive model for selecting MCAS candidates for bone marrow studies based on a high probability of an underlying clonal mast cell disorder. In this article, we propose a diagnostic algorithm and focus on the practical evaluation and management of patients with suspected MCAS.

Clinical Approach to Mast Cell ActivationSyndrome: A Practical Overview

The diagnosis of mast cell activation syndrome (MCAS) is defined by 3 criteria: (1) typical clinical signs and symptoms of acute, recurrent (episodic), and systemic mast cell activation (MCA); (2) increase in tryptase level to >20% + 2 ng/mL within 1-4 hours after onset of the acute crisis; and (3) response of MCA symptoms to antimediator therapy. Classification of MCAS requires highly sensitive and specific methodological approaches for the assessment of clonal bone marrow mast cells at low frequencies. The Spanish Network on Mastocytosis score has been used successfully as a predictive model for selecting MCAS candidates for bone marrow studies based on a high probability of an underlying clonal mast cell disorder. In this article, we propose a diagnostic algorithm and focus on the practical evaluation and management of patients with suspected MCAS (AU)

El diagnóstico de síndrome de activación mastocitaria (SAM) se basa en 3 criterios: 1) signos y síntomas específicos de activación mastocitaria aguda, recurrente y sistémica, 2) aumento de los valores de triptasa en un 20% + 2 ng/ml sobre el valor basal de cada individuo en el periodo comprendido entre 1-4 horas desde el inicio del cuadro agudo, y 3) resolución de los síntomas con tratamiento antimediador. Para realizar el diagnóstico de SAM, es preciso emplear métodos diagnósticos altamente sensibles y específicos capaces de detectar bajas cantidades de mastocitos en la médula ósea. El modelo predictivo de la Red Española de Mastocitosis (REMA score) resulta útil para identificar a los pacientes con mayor probabilidad de padecer una patología mastocitaria clonal y que, por tanto, requieren que se nealice un estudio de médula ósea en el proceso diagnóstico. En este artículo, proponemos un algoritmo diagnóstico para SAM y abordamos el manejo de estos pacientes desde un punto de vista práctico en la consulta alergológica (AU)

Value of the clinical history in the diagnosis of urticaria/angioedema induced by NSAIDs with cross-intolerance.

BACKGROUND: Multiple Non-steroidal anti-inflammatory drugs (NSAID)-induced urticaria/angioedema is the most common manifestation of hypersensitivity reactions to NSAIDs. Diagnostic evaluation is based on the clinical history and a drug provocation test. OBJECTIVE: To evaluate the role of the clinical history in the diagnosis of multiple NSAID-induced urticaria/angioedema. METHODS: We studied a group of patients with an unequivocal history of urticaria and/or angioedema after NSAID intake. Subjects had to have had at least two episodes of cutaneous symptoms with two different COX-1 inhibitors. The diagnosis was confirmed in all cases by a drug provocation test with acetyl salicylic acid (ASA). Multivariate analysis was done by analysing different variables, including number of drugs involved, episodes and time elapsed between drug intake and symptom onset. RESULTS: Of the total group of 75 cases with multiple NSAID-induced urticaria/angioedema diagnosed according to the clinical history, 76% developed a positive drug provocation test with ASA. The risk for having hypersensitivity was 17 times higher in patients who developed symptoms within the first 60 min after drug intake, 13 times higher in those who experienced reactions with more than two non-chemically related NSAIDs, and 10 times higher in women. CONCLUSIONS: Drug provocation testing with ASA confirms the diagnosis of multiple NSAID-induced urticaria/angioedema in up to 92% of cases with an unequivocal clinical history, when reactions occur within 1 h and more than two different NSAIDs are involved.

Agammaglobulinemia ligada al cromosoma X / X-linked agammaglobulinemia

Las inmunodeficiencias primarias son un grupo de enfermedades congénitas muy complejas, que pueden presentarse como inmunodeficiencia humoral, celular o ambas; sin embargo, esta diferenciación es más académica que real, ya que en el sistema inmunológico no se produce una disociación entre el brazo humoral y celular, sino una colaboración entre ambos, que se plasma en el correcto procesamiento de los fenómenos infecciosos, de tal forma que la manifestación clínica más frecuente de las inmunodeficiencias son las infecciones. La agammaglobulinemia ligada al cromosoma X fue la primera inmunodeficiencia congénita descrita. Esta inmunodeficiencia suele diagnosticarse en los primeros años de vida en los varones que presentan infecciones de repetición, sobre todo bacterianas

Primary immunodeficiencies are a group of highly complex congenital diseases that can present in the form of humoral immunodeficiency, cellular immunodeficiency or both. This differentiation, however, is more academic than real since, in the immune system, there is no dissociation between the humoral and cellular arms; rather, the two work together to effectively combat infectious processes. Infection is the most common clinical manifestation in immunodeficiencies. X-linked agammaglobulinemia (XLA)w as the first congenital immunodeficiency to be described. It is characteristically diagnosed in the first years of life in boys who present recurrent bacterial infections

Linfohistiocitosis hemofagocítica (I) / Hemophagocytic lymphohistiocytosis

La linfohistiocitosis hemofagocítica (LHH) es una enfermedad rara con una alta morbimortalidad. Se caracteriza por una disfunción de las células efectoras del sistema inmunológico, que puede ser debida a un defecto congénito o adquirido. Clínicamente, presenta un cuadro de fiebre, hepatosplenomegalia y síntomas neurológicos. A nivel de parámetros analíticos, observamos citopenias, alteración en la coagulación, cambios en el perfil lipídico, elevación de citocinas inflamatorias, e infiltración de órganos por histiocitos y fenómenos de hemofagocitosis. Recientemente, se ha detectado un defecto a nivel de células inmunes efectoras, caracterizado por la ausencia de la actividad natural killer (NK). El tratamiento inicial debe ir encaminado a la supresión del ambiente de hiperinflamación presente en estos niños; el trasplante de medula ósea es el tratamiento de elección en los casos de LHH congénita. En la actualidad, los enfermos de LHH pueden beneficiarse de nuevas técnicas diagnósticas específicas y mejores medidas terapéuticas (AU)