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Mastocytosis/mast cell activation syndrome

Gerhard J Molderings, Britta Haenisch, Stefan Brettner, Jürgen Homann, Markus Menzen, Franz Ludwig Dumoulin, Jens Panse, Joseph Butterfield, Lawrence B Afrin
Mast cell activation disease (MCAD) is a term referring to a heterogeneous group of disorders characterized by aberrant release of variable subsets of mast cell (MC) mediators together with accumulation of either morphologically altered and immunohistochemically identifiable mutated MCs due to MC proliferation (systemic mastocytosis [SM] and MC leukemia [MCL]) or morphologically ordinary MCs due to decreased apoptosis (MC activation syndrome [MCAS] and well-differentiated SM). Clinical signs and symptoms in MCAD vary depending on disease subtype and result from excessive mediator release by MCs and, in aggressive forms, from organ failure related to MC infiltration...
July 2016: Naunyn-Schmiedeberg's Archives of Pharmacology
Sophie Georgin-Lavialle, Raphaël Gaillard, Daniela Moura, Olivier Hermine
Patients with mastocytosis can display various disabling general and neuropsychological symptoms among one third of them, including general signs such as fatigue and musculoskeletal pain, which can have a major impact on quality of life. Neurological symptoms are less frequent and mainly consist of acute or chronic headache (35%), rarely syncopes (5%), acute onset back pain (4%), and in a few cases, clinical and radiological symptoms resembling or allowing the diagnosis of multiple sclerosis (1.3%). Headaches are associated with symptoms related to mast cell activation syndrome (flushes, prurit, and so forth) and more frequently present as migraine (37...
August 2016: Translational Research: the Journal of Laboratory and Clinical Medicine
Lawrence B Afrin, Joseph H Butterfield, Martin Raithel, Gerhard J Molderings
Mast cell (MC) disease has long been thought to be just the rare disease of mastocytosis (in various forms, principally cutaneous and systemic), with aberrant MC mediator release at symptomatic levels due to neoplastic MC proliferation. Recent discoveries now show a new view is in order, with mastocytosis capping a metaphorical iceberg now called "MC activation disease" (MCAD, i.e. disease principally manifesting inappropriate MC activation), with the bulk of the iceberg being the recently recognized "MC activation syndrome" (MCAS), featuring inappropriate MC activation to symptomatic levels with little to no inappropriate MC proliferation...
2016: Annals of Medicine
Lawrence B Afrin
A large and growing portion of the human population, especially in developed countries, suffers 1 or more chronic, often quite burdensome ailments which either are overtly inflammatory in nature or are suspected to be of inflammatory origin, but for which investigations to date have failed to identify specific causes, let alone unifying mechanisms underlying the multiple such ailments that often afflict such patients. Relatively recently described as a non-neoplastic cousin of the rare hematologic disease mastocytosis, mast cell (MC) activation syndrome-suspected to be of greatly heterogeneous, complex acquired clonality in many cases-is a potential underlying/unifying explanation for a diverse assortment of inflammatory ailments...
August 2016: Translational Research: the Journal of Laboratory and Clinical Medicine
Theoharis C Theoharides, Julia M Stewart
Mast cells (MCs) are ubiquitous in the body, but they have historically been associated with allergies, and most recently with regulation of immunity and inflammation. However, it remains a puzzle why so many MCs are located in the diencephalon, which regulates emotions and in the genitourinary tract, including the bladder, prostate, penis, vagina and uterus that hardly ever get allergic reactions. A number of papers have reported that MCs have estrogen, gonadotropin and corticotropin-releasing hormone (CRH) receptors...
October 2015: Translational Andrology and Urology
Ulrich W Kolck, Britta Haenisch, Gerhard J Molderings
Traditionally, mast cell activation disease (MCAD) has been considered as just one rare (neoplastic) disease, mastocytosis, focused on the mast cell (MC) mediators tryptase and histamine and the suggestive, blatant symptoms of flushing and anaphylaxis. Recently another form of MCAD, the MC activation syndrome, has been recognized featuring inappropriate MC activation with little to no neoplasia and likely much more heterogeneously clonal and far more prevalent than mastocytosis. Increasing expertise and appreciation has been established for the truly very large menagerie of MC mediators and their complex patterns of release, engendering complex, nebulous presentations of chronic and acute illness best characterized as multisystem polymorbidity of generally inflammatory ± allergic theme...
August 2016: Translational Research: the Journal of Laboratory and Clinical Medicine
Theoharis C Theoharides, Julia M Stewart, Erifili Hatziagelaki, Gerasimos Kolaitis
Brain "fog" is a constellation of symptoms that include reduced cognition, inability to concentrate and multitask, as well as loss of short and long term memory. Brain "fog" characterizes patients with autism spectrum disorders (ASDs), celiac disease, chronic fatigue syndrome, fibromyalgia, mastocytosis, and postural tachycardia syndrome (POTS), as well as "minimal cognitive impairment," an early clinical presentation of Alzheimer's disease (AD), and other neuropsychiatric disorders. Brain "fog" may be due to inflammatory molecules, including adipocytokines and histamine released from mast cells (MCs) further stimulating microglia activation, and causing focal brain inflammation...
2015: Frontiers in Neuroscience
Lawrence B Afrin, Dieter Pöhlau, Martin Raithel, Britta Haenisch, Franz L Dumoulin, Juergen Homann, Uwe M Mauer, Sabrina Harzer, Gerhard J Molderings
Neurologists and psychiatrists frequently encounter patients whose central and/or peripheral neurologic and/or psychiatric symptoms (NPS) are accompanied by other symptoms for which investigation finds no unifying cause and for which empiric therapy often provides little to no benefit. Systemic mast cell activation disease (MCAD) has rarely been considered in the differential diagnosis in such situations. Traditionally, MCAD has been considered as just one rare (neoplastic) disease, mastocytosis, generally focusing on the mast cell (MC) mediators tryptase and histamine and the suggestive, blatant symptoms of flushing and anaphylaxis...
November 2015: Brain, Behavior, and Immunity
U B Nurmatov, E Rhatigan, F E R Simons, A Sheikh
BACKGROUND: Primary mast cell activation syndromes (MCAS) are a group of disorders presenting with symptoms of mast cell mediator release. OBJECTIVES: To assess the effectiveness and safety of orally administered H1 -antihistamines in the treatment of primary MCAS compared with placebo and other pharmacologic treatments. METHODS: We systematically searched five databases and three trial repositories and contacted an international panel of experts to identify published and unpublished trials...
September 2015: Allergy
Lawrence B Afrin, Frank M Cichocki, Kamal Patel, Gerhard J Molderings
Mast cell (MC) activation syndrome (MCAS) is a recently recognized, likely prevalent collection of heterogeneous illnesses of inappropriate MC activation with little to no MC neoplasia likely driven by heterogeneous patterns of constitutively activating mutations in MC regulatory elements including various tyrosine kinases (TKs, dominantly KIT). MCAS typically presents as chronic multisystem polymorbidity of generally inflammatory ± allergic theme. As with indolent systemic mastocytosis (SM), treatment of MCAS focuses more against MC mediators than MC neoplasia, but some cases prove refractory even to the TK inhibitor (TKI) imatinib reported useful both in uncommon SM cases not bearing SM's usual imatinib-resistant KIT-D816V mutation and in some cases of MCAS (which rarely bears KIT-D816V)...
December 2015: European Journal of Haematology
Milda Vysniauskaite, Hans-Jörg Hertfelder, Johannes Oldenburg, Peter Dreßen, Stefan Brettner, Jürgen Homann, Gerhard J Molderings
Diagnosis of mast cell activation disease (MCAD), i.e. systemic mastocytosis (SM) and idiopathic systemic mast cell activation syndrome (MCAS), usually requires demonstration of increased mast cell (MC) mediator release. Since only a few MC mediators are currently established as biomarkers of MCAD, the sensitivity of plasma heparin level (pHL) as an indicator of increased MC activation was compared with that of serum tryptase, chromogranin A and urinary N-methylhistamine levels in 257 MCAD patients. Basal pHL had a sensitivity of 41% in MCAS patients and 27% in SM patients...
2015: PloS One
Lawrence B Afrin, Alexander Khoruts
PURPOSE: This article reviews the diagnostically challenging presentation of mast cell activation disease (MCAD) and current thoughts regarding interactions between microbiota and MCs. METHODS: A search for all studies on interactions between mast cells, mast cell activation disease, and microbiota published on and between 1960 and 2015 was conducted using the search terms mast cell, mastocyte, mastocytosis, mast cell activation, mast cell activation disease, mast cell activation syndrome, microbiome, microbiota...
May 1, 2015: Clinical Therapeutics
James L Kuhlen, Yamini V Virkud
Idiopathic anaphylaxis (IA) is a life-threatening allergic disease and the most common diagnosis given to patients following an anaphylactic event. The inability of the healthcare provider and the patient to identify the trigger for anaphylaxis makes standard allergen avoidance measures ineffectual. IA is diagnosed after other causes of anaphylaxis have been excluded. Mast cell activation syndromes (MCAS), mastocytosis, IgE to galactose-alpha-1,3-galactose (α-gal), and certain medications have recently been recognized as causes of anaphylaxis that were previously labeled idiopathic...
February 2015: Discovery Medicine
Roberta Zanotti, Carla Lombardo, Giovanni Passalacqua, Cristian Caimmi, Massimiliano Bonifacio, Giovanna De Matteis, Omar Perbellini, Maurizio Rossini, Donatella Schena, Moira Busa, Maria Cinzia Marcotulli, Maria Beatrice Bilò, Maurizio Franchini, Giovanni Marchi, Livio Simioni, Patrizia Bonadonna
BACKGROUND: Systemic mastocytosis is a clonal mast cell (MC) disease that can lead to potentially fatal anaphylactic reactions caused by excessive MC mediator release. The prevalence of mastocytosis in patients with Hymenoptera venom allergy is high, and thus the disease should be suspected in patients with severe reactions caused by Hymenoptera stings and increased serum basal tryptase (SBT) levels. OBJECTIVE: We sought to evaluate the presence of clonal MC disorders in patients seen at our mastocytosis center with Hymenoptera sting-induced anaphylaxis, documented hypotension, absence of urticaria pigmentosa, and normal SBT levels...
July 2015: Journal of Allergy and Clinical Immunology
Marianne Gamper, Sigrid Regauer, JoEllen Welter, Jakob Eberhard, Volker Viereck
PURPOSE: ESSIC identifies mast cell infiltrates of detrusor muscle as a diagnostic criterion for bladder pain syndrome/interstitial cystitis. However, an increased mast cell count is also characteristic of overactive bladder syndrome. The lack of uniformity in mast cell detection methods hampers data comparison. Using state-of-the-art techniques we investigated whether mast cells differ among bladder conditions. MATERIALS AND METHODS: We analyzed bladder biopsies from 56 patients, including 31 with bladder pain syndrome/interstitial cystitis with (12) or without (19) Hunner lesions, 13 with overactive bladder syndrome and 12 without bladder symptoms to determine the quantity, location, distribution and activation of mast cells using immunohistochemistry with anti-mast cell tryptase...
June 2015: Journal of Urology
Giovanna De Matteis, Roberta Zanotti, Sabrina Colarossi, Caterina De Benedittis, Andrès Garcia-Montero, Massimiliano Bonifacio, Marta Sartori, Fiorenza Aprili, Beatrice Caruso, Elisa Paviati, Giuseppe Carli, Omar Perbellini, Alberto Zamò, Patrizia Bonadonna, Giovanni Pizzolo, Giancesare Guidi, Giovanni Martinelli, Simona Soverini
Patients with Systemic Mastocytosis (SM) need a highly sensitive diagnostic test for D816V detection of the KIT receptor gene. Along with histology/cytology and flow cytometry evaluation, bone marrow (BM) from 110 consecutive adult patients referred with a suspicion of SM to Multidisciplinary Outpatient Clinic for Mastocytosis in Verona were tested both by Amplification Refractory Mutation System Reverse Transcriptase quantitative real time Polymerase Chain Reaction (ARMS-RT-qPCR) and RT-PCR+Restriction Fragment Length Polymorphism (RFLP) followed by Denaturing-High Performance Liquid Chromatography (D-HPLC) and Sanger sequencing...
March 2015: Leukemia Research
Anupama Ravi, Joseph Butterfield, Catherine R Weiler
BACKGROUND: Mast cell activation syndrome (MCAS) describes patients with episodes of mast cell mediator release, with negative bone marrow biopsy results, and the failure to meet the criteria for systemic mastocytosis. OBJECTIVE: Identify elevation of mast cell mediators of patients with MCAS. METHODS: We performed a retrospective study of 25 patients with MCAS who were evaluated at Mayo Clinic from 2006 to 2012. Patients were reviewed for MCAS symptoms and mast cell mediators, including serum tryptase and 24-hour urine N-methyl histamine (N-MH) and 11β-prostaglandin-F₂α (11β-PGF₂α)...
November 2014: Journal of Allergy and Clinical Immunology in Practice
T Gülen, H Hägglund, B Sander, B Dahlén, G Nilsson
BACKGROUND: The mechanisms by which mast cells in patients with unexplained anaphylaxis (UEA) are triggered remain elusive. Onset of episodes is unpredictable and often recurrent. The substantial overlap between the clinical manifestations of UEA and clonal mast cell disorders (CMD) suggests an association between these rare disorders. The two forms of CMD characterized to date are systemic mastocytosis (SM) and monoclonal mast cell activation syndrome (MMAS). OBJECTIVE: To examine the hypothesis that the pathogenesis of UEA reflects the presence of aberrant subpopulations of mast cells...
September 2014: Clinical and Experimental Allergy: Journal of the British Society for Allergy and Clinical Immunology
Anastasia I Petra, Smaro Panagiotidou, Julia M Stewart, Pio Conti, Theoharis C Theoharides
Mast cell (MC) activation disorders present with multiple symptoms including flushing, pruritus, hypotension, gastrointestinal complaints, irritability, headaches, concentration/memory loss and neuropsychiatric issues. These disorders are classified as: cutaneous and systemic mastocytosis with a c-kit mutation and clonal MC activation disorder, allergies, urticarias and inflammatory disorders and mast cell activation syndrome (MCAS), idiopathic urticaria and angioedema. MCs are activated by IgE, but also by cytokines, environmental, food, infectious, drug and stress triggers, leading to secretion of multiple mediators...
June 2014: Expert Review of Clinical Immunology
P Valent
Several different risk factors and conditions may predispose to severe life-threatening anaphylaxis. Systemic mastocytosis (SM) is one such condition. Although many SM patients are suffering from mild or even no mediator-related symptoms, others have recurrent episodes of severe anaphylaxis, with clear signs of a mast cell activation syndrome (MCAS) despite prophylactic therapy with anti-mediator-type drugs. In several of these patients, an IgE-dependent allergy is diagnosed. The severity and frequency of MCAS reactions neither correlate with the burden of neoplastic mast cells nor with the levels of specific IgE or the basal tryptase level...
July 2014: Clinical and Experimental Allergy: Journal of the British Society for Allergy and Clinical Immunology
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