CHILDHOOD ANAPHYLAXIS: NEW DEVELOPMENTS IN DIAGNOSIS AND TREATMENT

CHILDHOOD_ANAPHYLAXIS_NEW_DEVELOPMENTS _IN_DIAGNOSIS_AND_TREATMENT_kapak

MAST CELL DISEASES AND ANAPHYLAXIS

Dilek Azkur

Kırıkkale University, Faculty of Medicine, Department of Pediatric Immunology and Allergic Diseases, Kırıkkale, Türkiye

Azkur D. Mast Cell Diseases and Anaphylaxis. In: Harmancı K, editor. Childhood Anaphylaxis: New Developments in Diagnosis and Treatment. 1st ed. Ankara: Türkiye Klinikleri; 2025. p.343-354.

ABSTRACT

Anaphylaxis is an acute, potentially life-threatening systemic allergic reaction characterized by rapid symptom onset involving multiple organ systems, necessitating immediate medical management. Pediatric anaphylaxis, particularly in children with mast cell disorders, poses unique diagnostic and therapeutic challenges due to the heightened risk and complexity of their responses. Mast cells, strategically located at interfaces between internal and external environments, act as critical effector cells during allergic reactions by releasing bioactive mediators upon activation. Released mediators including histamine, tryptase, prostaglandins, leukotrienes, and cytokines collectively provoke clinical manifestations ranging from cutaneous symptoms to severe cardiovascular instability, angioedema, and gastrointestinal disturbances.

Mast cell disorders, categorized as primary, secondary, or idiopathic, result from abnormal proliferation or inappropriate mediator release. Primary disorders, notably mastocytosis, arise from intrinsic cellular defects commonly involving activating mutations of the KIT gene. Pediatric mastocytosis frequently presents as cutaneous mastocytosis, particularly maculopapular variants, and typically carries a favorable prognosis with spontaneous resolution by adolescence. Systemic involvement is rare but severe, warranting meticulous evaluation through clinical assessment, serum tryptase measurement, molecular analyses, and occasionally bone marrow biopsies. Hereditary alpha tryptasemia, a genetically determined elevation in baseline serum tryptase, notably increases susceptibility to mast cell-related symptoms and severe anaphylaxis, particularly when coexisting with mastocytosis or venom hypersensitivity.

Anaphylaxis in children with mast cell disorders is often idiopathic, with common triggers including physical stimuli, infections, foods, and vaccines. Unlike adults, Hymenoptera venom is less frequently implicated in pediatric cases. Elevated tryptase levels during and after acute episodes, along with baseline levels and KIT mutation analysis, are critical for diagnosis. Systemic mastocytosis diagnosis requires meeting WHO/ICC criteria involving major and minor histological, phenotypic, and genetic findings.

Clinical management of mast cell disorders involves personalized strategies focused on trigger avoidance, symptom management through antihistamines and mast cell stabilizers, and emergency preparedness including adrenaline autoinjectors. Emerging treatments such as omalizumab and tyrosine kinase inhibitors demonstrate potential benefits, although their pediatric application remains limited. Multidisciplinary care is pivotal, especially given the neuropsychiatric and developmental comorbidities. Although rare, pediatric systemic mastocytosis requires vigilant follow-up, particularly in cases with persistent symptoms, elevated tryptase, or organomegaly. With early recognition, risk stratification, and comprehensive care, most children achieve favorable outcomes.

Keywords: Anaphylaxis; Hereditary alpha-tryptasemia syndrome; KIT protein; Mast cells; Mastocytosis; Mast cell activation syndrome; Tryptases

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