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The Journal of Allergy and Clinical... Feb 2020The current consensus diagnostic criteria for mast cell activation syndrome(s) (MCAS[s]) were first established in 2012 and updated in 2019. This diagnosis has been... (Review)
Review
The current consensus diagnostic criteria for mast cell activation syndrome(s) (MCAS[s]) were first established in 2012 and updated in 2019. This diagnosis has been attached to multiple medical conditions not intended as part of the diagnosis. In this article, the diagnostic criteria are reviewed and other diseases in the differential diagnosis outlined. The goal of this review is to provide a tool for evaluation of patients with conditions that can mimic MCAS. Furthermore, the potential role for hereditary alpha-tryptasemia in this group of disorders is discussed.
Topics: Diagnosis, Differential; Humans; Mast Cells; Mastocytosis; Motivation
PubMed: 31470118
DOI: 10.1016/j.jaip.2019.08.022 -
International Journal of Molecular... Nov 2020Mast cell activation (MCA) is seen in a variety of clinical contexts and pathologies, including IgE-dependent allergic inflammation, other immunologic and inflammatory... (Review)
Review
Mast cell activation (MCA) is seen in a variety of clinical contexts and pathologies, including IgE-dependent allergic inflammation, other immunologic and inflammatory reactions, primary mast cell (MC) disorders, and hereditary alpha tryptasemia (HAT). MCA-related symptoms range from mild to severe to life-threatening. The severity of MCA-related symptoms depends on a number of factors, including genetic predisposition, the number and releasability of MCs, organs affected, and the type and consequences of comorbid conditions. In severe systemic reactions, MCA is demonstrable by a substantial increase of basal serum tryptase levels above the individual's baseline. When, in addition, the symptoms are recurrent, involve more than one organ system, and are responsive to therapy with MC-stabilizing or mediator-targeting drugs, the consensus criteria for the diagnosis of MCA syndrome (MCAS) are met. Based on the etiology of MCA, patients can further be classified as having i) primary MCAS where -mutated, clonal, MCs are detected; ii) secondary MCAS where an underlying IgE-dependent allergy or other reactive MCA-triggering pathology is found; or iii) idiopathic MCAS, where neither a triggering reactive state nor -mutated MCs are identified. Most severe MCA events occur in combined forms of MCAS, where -mutated MCs, IgE-dependent allergies and sometimes HAT are detected. These patients may suffer from life-threatening anaphylaxis and are candidates for combined treatment with various types of drugs, including IgE-blocking antibodies, anti-mediator-type drugs and MC-targeting therapy. In conclusion, detailed knowledge about the etiology, underlying pathologies and co-morbidities is important to establish the diagnosis and develop an optimal management plan for MCAS, following the principles of personalized medicine.
Topics: Diagnosis, Differential; Genetic Predisposition to Disease; Humans; Mast Cells; Mastocytosis; Precision Medicine
PubMed: 33261124
DOI: 10.3390/ijms21239030 -
Journal of Obstetrics and Gynaecology :... Oct 2020Mast cell activation syndrome (MCAS) is a chronic multisystem disease of aberrant constitutive and reactive mast cell mediator release causing generally inflammatory,... (Review)
Review
Mast cell activation syndrome (MCAS) is a chronic multisystem disease of aberrant constitutive and reactive mast cell mediator release causing generally inflammatory, allergic, and dystrophic issues. The pathobiology of MCAS drives extraordinary clinical complexity and heterogeneity, which led to only recent recognition despite increasingly apparent substantial prevalence, perhaps as high as 17%. It also has a strong female predilection. Thus, MCAS inescapably impacts pregnancy and the post-partum period in many women. No specific research in the pregnant or post-partum MCAS population has been performed yet. However, its prevalence and potential for driving substantial morbidity merit obstetric providers' acquaintance with this illness and its potential impacts on their patients during pregnancy, delivery, the post-partum period, and lactation. Extensive literature review across all medical specialities, plus direct experience in the authors' practices, provides guidance in recognising MCAS in pregnancy and diagnosing and effectively managing it. Described herein are manners in which MCAS, a protean multisystem disease, adversely affects all stages of pregnancy and post-partum. In order to reduce risks of MCAS causing complications before, during and after pregnancy, identifying and controlling the syndrome prior to pregnancy is best, but, even if the disease is not recognised until late, there may still be opportunities to mitigate its effects. There is precedent for improved outcomes if comorbid MCAS is recognised and controlled. This review provides the first comprehensive guide for obstetric providers regarding this emerging major comorbidity.
Topics: Delivery, Obstetric; Female; Humans; Labor, Obstetric; Lactation; Mast Cells; Mastocytosis; Postpartum Period; Pregnancy; Pregnancy Complications
PubMed: 32148151
DOI: 10.1080/01443615.2019.1674259 -
Primary Care Sep 2016Mastocytosis is a rare disease caused by excessive production of mast cells. Clinical presentation is variable, often based on the type of mastocytosis, but in all types... (Review)
Review
Mastocytosis is a rare disease caused by excessive production of mast cells. Clinical presentation is variable, often based on the type of mastocytosis, but in all types of mastocytosis there seems to be an increase in the risk of anaphylaxis. Systemic mastocytosis is diagnosed based on bone marrow biopsy. Treatment is variable based on the type of mastocytosis, but trigger avoidance and anaphylaxis treatment are mainstays. There are no therapies that change the natural course of mastocytosis. For cutaneous mastocytosis, treatment is conservative and aimed at symptom relief.
Topics: Anaphylaxis; Biopsy; Blood Cell Count; Blood Chemical Analysis; Humans; Mast Cells; Mastocytosis, Cutaneous; Mastocytosis, Systemic; Mutation; Primary Health Care; Proto-Oncogene Proteins c-kit; Quality of Life; Tryptases
PubMed: 27545739
DOI: 10.1016/j.pop.2016.04.007 -
Immunology and Allergy Clinics of North... Nov 2023To a large extent, the clinical picture of pediatric mastocytosis depends on the age at which it is diagnosed. A neonate with diffuse cutaneous mastocytosis may... (Review)
Review
To a large extent, the clinical picture of pediatric mastocytosis depends on the age at which it is diagnosed. A neonate with diffuse cutaneous mastocytosis may frequently present in a severe state requiring treatment. Toddlers may require long-term anti-mediator therapy, and this may lead to concerns such as organizing preschool education due to the need for epinephrine injections. A teenager may have to face cutaneous disease persistence or a diagnosis of systemic mastocytosis. Further studies are needed to refine the available treatment options and prognosis for different age groups.
Topics: Child, Preschool; Infant, Newborn; Adolescent; Child; Humans; Mastocytosis; Mastocytosis, Cutaneous; Mastocytosis, Systemic; Prognosis
PubMed: 37758405
DOI: 10.1016/j.iac.2023.04.001 -
Immunology and Allergy Clinics of North... Nov 2023
Topics: Humans; Mast Cells; Mastocytosis
PubMed: 37758414
DOI: 10.1016/j.iac.2023.08.001 -
Medicina (Kaunas, Lithuania) Jan 2021Mast cell disorders comprise a wide spectrum of syndromes caused by mast cells' degranulation with acute or chronic clinical manifestations. In this review article we... (Review)
Review
Mast cell disorders comprise a wide spectrum of syndromes caused by mast cells' degranulation with acute or chronic clinical manifestations. In this review article we reviewed the latest findings in scientific papers about mast cell disorders with a particular focus on mast cell activation syndrome and mastocytosis in pediatric age. Patients with mast cell activation syndrome have a normal number of mast cells that are hyperreactive upon stimulation of various triggers. We tried to emphasize the diagnostic criteria, differential diagnosis, and therapeutic strategies. Another primary mast cell disorder is mastocytosis, a condition with a long-known disease, in which patients have an increased number of mast cells that accumulate in different regions of the body with different clinical evolution in pediatric age. Mast cell activation syndrome overlaps with different clinical entities. No consensus was found on biomarkers and no clearly resolutive treatment is available. Therefore, a more detailed knowledge of this syndrome is of fundamental importance for a correct diagnosis and effective therapy.
Topics: Biomarkers; Child; Diagnosis, Differential; Humans; Mast Cells; Mastocytosis; Syndrome
PubMed: 33573161
DOI: 10.3390/medicina57020124 -
Dermatologie (Heidelberg, Germany) May 2023Mastocytosis in children is a rare disease characterized by an abnormal accumulation of tissue mast cells. Mastocytosis in children presents with typical skin... (Review)
Review
Mastocytosis in children is a rare disease characterized by an abnormal accumulation of tissue mast cells. Mastocytosis in children presents with typical skin alterations that are classified as maculopapular cutaneous mastocytosis, diffuse cutaneous mastocytosis, or mastocytoma. Some patients also develop mast cell mediator symptoms, such as pruritus, flush, and anaphylaxis. In many children, the disease is characterized by a benign and usually self-limiting course; systemic mastocytosis with extracutaneous involvement and a chronic or progressive course is found only rarely. Therapeutically, H1 antihistamines are primarily used on an as-needed basis or as continuous treatment, depending on the severity. Children, parents and caregivers should be thoroughly educated about the clinical picture and possible trigger factors of mast cell mediator release. For children with extensive skin alterations and severe symptoms, the prescription of an epinephrine auto-injector is recommended for emergency treatment.
Topics: Humans; Child; Mastocytosis; Mast Cells; Urticaria Pigmentosa; Mastocytosis, Systemic; Mastocytosis, Cutaneous
PubMed: 37140636
DOI: 10.1007/s00105-023-05168-9 -
Immunology and Allergy Clinics of North... Feb 2023Mastocytosis is a rare neoplastic disorder of the mast cell lineage resulting in unregulated proliferation and activation of mast cells. Symptoms worsen in about... (Review)
Review
Mastocytosis is a rare neoplastic disorder of the mast cell lineage resulting in unregulated proliferation and activation of mast cells. Symptoms worsen in about one-third of pregnant patients. Treatment focuses on management of symptoms with antimediator therapy (H1 & H2 antihistamines, glucocorticoids, and epinephrine, if required). Medication selection requires care during labor and delivery. Although it is generally considered safe to use a medication patient tolerated before, some common medications may need to be avoided or used with caution (eg, codeine, morphine, nonsteroidal antiinflammatory drugs, vancomycin) if the patient does not have any history of exposure to them.
Topics: Female; Pregnancy; Humans; Mastocytosis; Mast Cells; Anti-Inflammatory Agents, Non-Steroidal; Epinephrine; Glucocorticoids; Rare Diseases
PubMed: 36411001
DOI: 10.1016/j.iac.2022.07.003 -
Current Allergy and Asthma Reports Oct 2017In this review, we examine the current understanding of the pathogenesis, clinical presentations, diagnostic tools, and treatment options of pediatric mastocytosis as... (Review)
Review
PURPOSE OF REVIEW
In this review, we examine the current understanding of the pathogenesis, clinical presentations, diagnostic tools, and treatment options of pediatric mastocytosis as well as the natural history of the disease.
RECENT FINDINGS
We discuss the emerging concept of mast cell activation syndrome. Mastocytosis in children presents most commonly as isolated cutaneous lesions and is a relatively rare occurrence with excellent prognosis and spontaneous regression often occurring by adolescence. Systemic mastocytosis with organ system involvement is a more serious condition and is likely to persist into adulthood.
Topics: Child; Humans; Mast Cells; Mastocytosis; Prognosis; Skin
PubMed: 28988349
DOI: 10.1007/s11882-017-0748-4