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Idiopathic Mast Cell Activation Syndrome With Associated Salicylate Intolerance.

ABSTRACT: Idiopathic mast cell activation syndrome can be a rare cause for chronic abdominal pain in children. It remains a diagnosis by exclusion that can be particularly challenging due to the vast variety of possible clinical manifestations. We present a 13-year-old boy who suffered from a multitude of unspecific complaints over a long period of time. In this case, an assessment of mast cell-derived metabolites and immunohistochemical analysis of bioptic specimen was worthwhile. After ruling out, primary (oncologic) and secondary causes for mast cell activation, pharmacologic treatment adapted to the patient's salicylate intolerance resulted in a major relief of symptoms.

SUBMITTER: Rechenauer T

PROVIDER: S-EPMC5881244 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Idiopathic Mast Cell Activation Syndrome With Associated Salicylate Intolerance.

Rechenauer Tobias T Raithel Martin M Götze Thomas T Siebenlist Gregor G Rückel Aline A Baenkler Hanns-Wolf HW Hartmann Arndt A Haller Florian F Hoerning André A

Frontiers in pediatrics 20180327

Idiopathic mast cell activation syndrome can be a rare cause for chronic abdominal pain in children. It remains a diagnosis by exclusion that can be particularly challenging due to the vast variety of possible clinical manifestations. We present a 13-year-old boy who suffered from a multitude of unspecific complaints over a long period of time. In this case, an assessment of mast cell-derived metabolites and immunohistochemical analysis of bioptic specimen was worthwhile. After ruling out, prima ...[more]

PMID: 29637062

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Restless legs syndrome is associated with mast cell activation syndrome.

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| S-EPMC7075100 | biostudies-literature

Characterization of Mast Cell Activation Syndrome.

Project description:BackgroundMast cell activation syndrome (MCAS), a recently recognized nonneoplastic mast cell disease driving chronic multisystem inflammation and allergy, appears prevalent and thus important. We report the first systematic characterization of a large MCAS population.MethodDemographics, comorbidities, symptoms, family histories, physical examination and laboratory findings were reviewed in 298 retrospective and 115 prospective patients with MCAS. Blood samples from prospective subjects were examined by flow cytometry for clonal mast cell disease and tested for cytokines potentially driving the monocytosis frequent in MCAS.ResultsDemographically, white females dominated. Median ages at symptom onset and diagnosis were 9 and 49 years, respectively (range: 0-88 and 16-92, respectively) and median time from symptom onset to diagnosis was 30 years (range: 1-85). Median numbers of comorbidities, symptoms, and family medical issues were 11, 20, and 4, respectively (range: 1-66, 2-84, and 0-33, respectively). Gastroesophageal reflux, fatigue and dermatographism were the most common comorbidity, symptom and examination finding. Abnormalities in routine laboratories were common and diverse but typically modest. The most useful diagnostic markers were heparin, prostaglandin D2, histamine and chromogranin A. Flow cytometric and cytokine assessments were unhelpful.ConclusionsOur study highlights MCAS׳s morbidity burden and challenging heterogeneity. Recognition is important given good survival and treatment prospects.

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Project description: Not available

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Mast Cell Activation

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2005-09-09 | GSE3271 | GEO

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