A distinct biomolecular profile identifies monoclonal mast cell disorders in patients with idiopathic anaphylaxis

Carter, Melody C.; Desai, Avanti; Komarow, Hirsh D.; Bai, Yun; Clayton, Sarah T.; Clark, Alicia S.; Ruiz-Esteves, Karina; Long, Lauren; Cantave, Daly; Wilson, Todd M.; Scott, Linda M.; Šimáková, Olga; Jung, Mi‐Yeon; Hahn, Jamie; Marić, Irina; Metcalfe, Dean D.

doi:10.1016/j.jaci.2017.05.036

Cited by 69 publications

(48 citation statements)

References 30 publications

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“…These patients also had relatively low serum tryptase levels (all <20 ng/ml) at the time when the PB ASqPCR assay was negative. We have reported a similar observation in adult patients with idiopathic anaphylaxis with isolated bone marrow mastocytosis (Carter et al, 2015(Carter et al, , 2018, which is supported by other reports (Erben et al, 2014;Kristensen et al, 2014Kristensen et al, , 2017Carter et al, 2018). This is consistent with the low frequency of cells bearing the mutated allele in patients with minimal disease or improving clinical status.…”

Section: Discussionsupporting

confidence: 91%

“…There are several published algorithms to assist in the diagnostic approach and determine which adults are more likely to have systemic disease (Alvarez-Twose et al, 2010;Gulen et al, 2014;Carter et al, 2018). Recent studies identifying and quantitating the KIT D816V mutation in peripheral blood (PB) in adults have suggested it to be a valuable tool for diagnosis, (Kristensen et al, 2011(Kristensen et al, , 2014Jara-Acevedo et al, 2015) to determine disease burden and monitoring (Erben et al, 2014), and to assess response to therapy (Hoermann et al, 2014).…”

Section: Discussionmentioning

confidence: 99%

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Detection of KIT D816V in peripheral blood of children with manifestations of cutaneous mastocytosis suggests systemic disease

et al. 2018

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Summary The use of allele‐specific quantitative polymerase chain reaction to identify KIT D816V in the peripheral blood of adults with mastocytosis has been reported to have value in the diagnosis, assessment of disease burden and management of this disease. To examine the value of this assay in children with cutaneous manifestations of mastocytosis, we assessed data on 65 patients with all variants of paediatric‐onset mastocytosis, including those known to have systemic disease, to correlate KIT mutation status with clinical findings, serum tryptase levels and bone marrow histopathology. We found that KIT D816V was not identified in the peripheral blood of children known to have only cutaneous disease (specificity 100%) but was found in those known to have both cutaneous and systemic/probable systemic disease (sensitivity of 85·2%). These findings were the basis of the development of an algorithm to assist in the decision for when to perform a bone marrow biopsy in children presenting with cutaneous manifestations of mastocytosis.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Detection of KIT D816V in peripheral blood of children with manifestations of cutaneous mastocytosis suggests systemic disease

et al. 2018

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“…In another study, Carter and colleagues investigated 56 subjects who had more than one episodes of unexplained anaphylaxis with BM examination and found evidence of MC clonal disease in 14% of cases. The authors proposed the “NIH Idiopathic Clonal Anaphylaxis Score” (NICAS) tool which uses four parameters: gender, clinical symptoms, baseline serum tryptase level (“cut‐off” at 11.4 ng/mL) and allele‐specific PCR testing to detect the presence or absence of KIT D816V in peripheral blood.…”

Section: Mast Cell Disorders Misdiagnosed As Idiopathic Anaphylaxismentioning

confidence: 99%

Idiopathic anaphylaxis

Bilò

Martini

Tontini

et al. 2019

Clin Experimental Allergy

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Idiopathic anaphylaxis (IA) or spontaneous anaphylaxis is a diagnosis of exclusion when no cause can be identified. The exact incidence and prevalence of IA are not known. The clinical manifestations of IA are similar to other known causes of anaphylaxis. A typical attack is usually acute in onset and can worsen over minutes to a few hours. The pathophysiology of IA has not yet been fully elucidated, although an IgE‐mediated pathway by hitherto unidentified trigger/s might be the main underlying mechanism. Elevated concentrations of urinary histamine and its metabolite, methylimidazole acetic acid, plasma histamine and serum tryptase have been reported, consistent with mast cell activation. There is some evidence that corticosteroids reduce the frequency and severity of episodes of IA, consistent with a steroid‐responsive condition. Important differential diagnoses of IA include galactose alpha‐1,3 galactose (a carbohydrate contained in red meat) allergy, pigeon tick bite (Argax reflexus), wheat‐dependent exercise‐induced anaphylaxis, Anisakis simplex allergy and mast cell disorders. Other differential diagnoses include “allergy‐mimics” such as asthma masquerading as anaphylaxis, undifferentiated somatoform disorder, panic attacks, globus hystericus, vocal cord dysfunction, scombroid poisoning, vasoactive amine intolerance, carcinoid syndrome and phaeochromocytoma. Acute treatment of IA is the same as for other forms of anaphylaxis. Long‐term management is individualized and dictated by frequency and severity of symptoms and involves treatment with H1 and H2 receptor blockers, leukotriene receptor antagonist and consideration for prolonged reducing courses of oral corticosteroids. Patients should possess an epinephrine autoinjector with an anaphylaxis self‐management plan. There are anecdotal reports regarding the use of omalizumab. For reasons that remain unclear, the prognosis of IA is generally favourable with appropriate treatment and patient education. If remission cannot be achieved, the diagnosis should be reconsidered.

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“…10,11 Mastocytosis is an important risk factor for IA, and in patients with IA a clonal mast cell disease should be considered in the differential diagnosis. 12,13 Mast cells, along with basophils, are the effector cells in human anaphylaxis, and the symptoms are caused by release of vasoactive mediators and cytokines from activated mast cells and basophils. Idiopathic anaphylaxis is therefore classified under idiopathic mast cell activation syndromes in a recent classification of mast cell disorders.…”

Section: Introductionmentioning

confidence: 99%

“…25 However, in a prospective study of patients with IA, ex vivo studies of cultured mast cells indicated no evidence of a hyperreponsive mast cell phenotype. 12 Another theory of IA pathogenesis involves activated lymphocytes. Patient with IA have been shown to have a higher percentage of activated T-cells (CD3þ HLA-DRþ) in peripheral blood during acute episodes compared with patients in remission.…”

Section: Introductionmentioning

confidence: 99%

Idiopathic anaphylaxis yardstick

Carter

Akin

Castells

et al. 2020

Annals of Allergy, Asthma & Immunology

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Anaphylaxis is considered idiopathic when there is no known trigger. The signs and symptoms of idiopathic anaphylaxis (IA) are identical to those of anaphylaxis because of a known cause and can include cutaneous, circulatory, respiratory, gastrointestinal, and neurologic symptoms. Idiopathic anaphylaxis can be a frustrating disease for patients and health care providers. Episodes are unpredictable, and differential diagnosis is challenging. Current anaphylaxis guidelines have little specific guidance regarding differential diagnosis and long-term management of IA. Therefore, the objective of the Idiopathic Anaphylaxis Yardstick is to use published data and the authors' combined clinical experience to provide practical recommendations for the diagnosis and management of patients with IA.

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A distinct biomolecular profile identifies monoclonal mast cell disorders in patients with idiopathic anaphylaxis

Cited by 69 publications

References 30 publications

Detection of KIT D816V in peripheral blood of children with manifestations of cutaneous mastocytosis suggests systemic disease

Detection of KIT D816V in peripheral blood of children with manifestations of cutaneous mastocytosis suggests systemic disease

Idiopathic anaphylaxis

Idiopathic anaphylaxis yardstick

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