Mast cell activation syndrome: A newly recognized disorder with systemic clinical manifestations

Hamilton, Matthew J.; Hornick, Jason L.; Akin, Cem; Castells, Mariana; Greenberger, Norton J.

doi:10.1016/j.jaci.2011.04.037

Cited by 119 publications

(107 citation statements)

References 23 publications

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“…Diagnostic imaging with ultrasound, computed tomography and magnetic resonance imaging assists in tumor localization. Functional PET imaging such as 68 Ga-DOTA fusion PET/CT scans is the most sensitive modality for localizing VIPomas. 48 Somatostatin receptor scintigraphy is used specifically for tumors that express somatostatin receptors for VIPomas located at extrapancreatic sites.…”

Section: Diagnosis and Treatmentmentioning

confidence: 99%

Flushing Disorders Associated with Gastrointestinal Symptoms: Part 1, Neuroendocrine Tumors, Mast Cell Disorders and Hyperbasophila

et al. 2018

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Flushing is the subjective sensation of warmth accompanied by visible cutaneous erythema occurring throughout the body with a predilection for the face, neck, pinnae, and upper trunk where the skin is thinnest and cutaneous vessels are superficially located and in greatest numbers. Flushing can be present in either a wet or dry form depending upon whether neural-mediated mechanisms are involved. Activation of the sympathetic nervous system results in wet flushing, accompanied by diaphoresis, due to concomitant stimulation of eccrine sweat glands. Wet flushing is caused by certain medications, panic disorder and paroxysmal extreme pain disorder (PEPD). Vasodilator mediated flushing due to the formation and release of a variety of biogenic amines, neuropeptides and phospholipid mediators such as histamine, serotonin and prostaglandins, respectively, typically presents as dry flushing where sweating is characteristically absent. Flushing occurring with neuroendocrine tumors accompanied by gastrointestinal symptoms is generally of the dry flushing variant, which may be an important clinical clue to the differential diagnosis. A number of primary diseases of the gastrointestinal tract cause flushing, and conversely extra-intestinal conditions are associated with flushing and gastrointestinal symptoms. Gastrointestinal findings vary and include one or more of the following non-specific symptoms such as abdominal pain, nausea, vomiting, diarrhea or constipation. The purpose of this review is to provide a focused comprehensive discussion on the presentation, pathophysiology, diagnostic evaluation and management of those diseases that arise from the gastrointestinal tract or other site that may cause gastrointestinal symptoms secondarily accompanied by flushing. This review is divided into two parts given the scope of conditions that cause flushing and affect the gastrointestinal tract: Part 1 covers neuroendocrine tumors (carcinoid, pheochromocytomas, vasoactive intestinal polypeptide, medullary carcinoma of the thyroid), polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, skin changes (POEMS), and conditions involving mast cells and basophils; while Part 2 covers dumping syndrome, mesenteric traction syndrome, rosacea, hyperthyroidism and thyroid storm, anaphylaxis, panic disorders, paroxysmal extreme pain disorder, and food, alcohol and medications.

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Section: Diagnosis and Treatmentmentioning

confidence: 99%

Flushing Disorders Associated with Gastrointestinal Symptoms: Part 1, Neuroendocrine Tumors, Mast Cell Disorders and Hyperbasophila

et al. 2018

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“…The term MCAS should be applied when i) clinical signs of severe recurrent (or chronic) systemic MCA are present, ii) involvement of mast cells can be documented by biochemical measurements (preferably increase in tryptase following the 20% + 2 formula), and iii) the symptoms respond to therapy with mast cell-stabilizing agents or drugs directed against mast cell mediator production, mediator release, or mediator effects (24)(25)(26)(27) (Fig. 1).…”

Section: Definition Of Mca Syndromes (Mcas) and Related Criteriamentioning

confidence: 99%

“…Mast cell activation syndrome usually develops on the basis of a known underlying systemic disease, which can be an IgE-dependent disorder, another inflammatory disease, or a mast cell neoplasm (20)(21)(22)(23)(24)(25)(26)(27). In most patients, the mast cell neoplasm, if detected, is classified as systemic mastocytosis (SM).…”

Section: Underlying Disorders and Classification Of Mcasmentioning

confidence: 99%

“…In addition, KIT D816V has been discussed as contributing to the enhanced releasability of mast cells in SM, although this point is still a matter of discussion. An important aspect is that KIT D816V is sometimes also expressed in mast cells in patients with cutaneous mastocytosis (CM) (61)(62)(63) or even in otherwise healthy individuals in whom neither criteria for CM nor criteria for SM are fulfilled (21)(22)(23)(24)(25)(26). In these patients, the KIT-mutated mast cells may contribute to the symptoms of MCAS in the same way as in SM.…”

Section: Underlying Disorders and Classification Of Mcasmentioning

confidence: 99%

“…More recently, however, MCA has also been studied in the context of other diseases, including systemic mastocytosis (21)(22)(23)(24)(25). During the past 3 years, criteria for MCA and MCAS have been developed by a consensus panel consisting of experts in the fields of allergy, dermatology, hematology, pathology, and molecular medicine (25)(26)(27).…”

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Mast cell activation syndromes: definition and classification

Valent

2013

Allergy

104

165

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Mast cell activation (MCA) occurs in a number of different clinical conditions, including IgE-dependent allergies, other inflammatory reactions, and mastocytosis. MCA-related symptoms may be mild, moderate, severe, or even life-threatening. The severity of MCA depends on a number of different factors, including genetic predisposition, the number and releasability of mast cells involved in the reaction, the type of allergen, presence of specific IgE, and presence of certain comorbidities. In severe reactions, MCA can be documented by a substantial increase in the serum tryptase level above baseline. When symptoms are recurrent, are accompanied by an increase in mast cell-derived mediators in biological fluids, and are responsive to treatment with mast cell-stabilizing or mediator-targeting drugs, the diagnosis of mast cell activation syndrome (MCAS) is appropriate. Based on the underlying condition, these patients can further be classified into i) primary MCAS where KIT-mutated, clonal mast cells are detected, ii) secondary MCAS where an underlying inflammatory disease, often in the form of an IgE-dependent allergy, but no KIT-mutated mast cells, is found, and iii) idiopathic MCAS, where neither an allergy or other underlying disease, nor KITmutated mast cells are detectable. It is important to note that in many patients with MCAS, several different factors act together to lead to severe or even lifethreatening anaphylaxis. Detailed knowledge about the pathogenesis and complexity of MCAS, and thus establishing the exact final diagnosis, may greatly help in the management and therapy of these patients.Mast cells are tissue-fixed effector cells of allergic and other inflammatory reactions (1-5). In common with blood basophils, mast cells express high-affinity IgE-binding sites and store numerous proinflammatory and vasoactive mediators in their metachromatic granules (1-3). During a severe anaphylactic reaction, allergen-induced cross-linking of IgE-binding sites on mast cells is followed by an explosive release of granular mediators (1-3, 5-7). In addition, activated mast cells release newly synthesized membrane-derived (lipid) mediators of allergic reactions into the extracellular space. Blood basophils also participate in allergic and other inflammatory reactions in the same way as mast cells (1,8,9). However, not all allergic reactions involve both cell types, even if the reaction is systemic. In addition, some of the mediators relevant to anaphylactic reactions are produced and released primarily in mast cells but not in basophils, or only in blood basophils but not in tissue mast cells.The capacity of mast cells and basophils to release mediators of anaphylaxis in response to cell activation, also termed 'releasability', depends on a number of different factors, including the primary underlying disease, number and type of (pre)activated receptors and signaling cascades, and the genetic background (9-13). The severity of an anaphylactic reaction is determined by additional factors, including the number...

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Mast cell disorders in Ehlers–Danlos syndrome

Seneviratne¹,

Maitland²,

Afrin³

2017

American J of Med Genetics Pt C

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Well known for their role in allergic disorders, mast cells (MCs) play a key role in homeostatic mechanisms and surveillance, recognizing and responding to different pathogens, and tissue injury, with an array of chemical mediators. After being recruited to connective tissues, resident MCs progenitors undergo further differentiation, under the influence of signals from surrounding microenvironment. It is the differential tissue homing and local maturation factors which result in a diverse population of resident MC phenotypes. An abundance of MC reside in connective tissue that borders with the external world (the skin as well as gastrointestinal, respiratory, and urogenital tracts). Situated near nerve fibers, lymphatics, and blood vessels, as well as coupled with their ability to secrete potent mediators, MCs can modulate the function of local and distant structures (e.g., other immune cell populations, fibroblasts, angiogenesis), and MC dysregulation has been implicated in immediate and delayed hypersensitivity syndromes, neuropathies, and connective tissue disorders (CTDs). This report reviews basic biology of mast cells and mast cell activation as well as recent research efforts, which implicate a role of MC dysregulation beyond atopic disorders and in a cluster of Ehlers-Danlos Syndromes, non-IGE mediated hypersensitivity disorders, and dysautonomia.

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Mast cell activation syndrome: A newly recognized disorder with systemic clinical manifestations

Cited by 119 publications

References 23 publications

Flushing Disorders Associated with Gastrointestinal Symptoms: Part 1, Neuroendocrine Tumors, Mast Cell Disorders and Hyperbasophila

Flushing Disorders Associated with Gastrointestinal Symptoms: Part 1, Neuroendocrine Tumors, Mast Cell Disorders and Hyperbasophila

Mast cell activation syndromes: definition and classification

Mast cell disorders in Ehlers–Danlos syndrome

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