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Master Thesis

Syndrome d’activation mastocytaire en l’absence de signe de mastocytose : description d’une nouvelle entité pédiatrique

Abstract : Introduction. Mast Cell Activation Syndrome (MCAS) is defined by the association of clinical and biological signs of mast cell activation (sMCA) with appropriate response to therapy targeting mast cell activation. MCAS may be clonal (mastocytosis), secondary to systemic disease or idiopathic. In children, MCAS has only been described in mastocytosis. Objective. To describe a cohort of paediatric MCAS with no evidence of associated condition (AC) explaining symptoms. Methods. Retrospective study, patients < 18 years old, seen at CHU de Grenoble, between March 2009 and February 2019, presenting with at least 2 sMCA including 1 cutaneous sMCA, without AC. Results. 28 children: 64% girls, age upon beginning of symptoms 5 [0,3-16], diagnostic delay 5 years[1-10]. Family history of MCAS 25%, personal history of POTS 25%, hyperelasticity 36%. Observed sMCA: urticaria 100%, abdominal pain 82%, angioedema 71%, arthralgia 54%, diarrhoea, nausea/vomiting, headache 50%, fatigue 47%, recurring laryngitis 43%, malaise 39%, gastric reflux 39%, myalgia 32%, altered attention, concentration or memory 32%. Basal tryptase levels 3.33ng/mL [1.68-11.1]. Quality of life impairement was major : schooling impairment 25%, reactional depression 14%. A therapeutic response was observed in all cases : complete 25%, partial 64% (missing data 11%). Conclusion. MCAS with no evidence of mastocytosis or AC may be observed in children. These are probably idiopathic MCAS, but our study could not exclude clonal mastocytosis. Diagnostic delay and quality of life impairment were major. Paediatricians must be able to recognize and treat MCAS as early as possible.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-02327226
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Submitted on : Tuesday, October 22, 2019 - 5:26:19 PM
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Josépha Pourchet. Syndrome d’activation mastocytaire en l’absence de signe de mastocytose : description d’une nouvelle entité pédiatrique. Médecine humaine et pathologie. 2019. ⟨dumas-02327226⟩

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