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The Journal of Allergy and Clinical... Oct 2019Our current recommendations for diagnosing and treating primary mast cell (MC) activation syndrome make use of the latest studies and consensus guidelines for clinically...
Our current recommendations for diagnosing and treating primary mast cell (MC) activation syndrome make use of the latest studies and consensus guidelines for clinically recognizing systemic anaphylaxis in real time, regardless of whether allergen-triggered or other pathways are involved; our current understanding of the biomarkers secreted by activated MCs that best discriminate this disorder from other conditions; and the therapeutic drugs that might selectively affect those mediators or MCs themselves. Finding familial or somatic mutations of genes that cause MCs to be hyperactivatable would extend our diagnostic tools and potentially indicate new therapeutic interventions, targeting either the mutated gene product or the associated molecular pathway. In conclusion, we trust that the clinical, laboratory, and therapeutic criteria for primary MC activation syndromes described herein will provide clinicians with practical criteria of sufficient sensitivity and specificity to diagnose most cases without overdiagnosing the disorder in patients who likely have other conditions.
Topics: Humans; Mastocytosis
PubMed: 31476322
DOI: 10.1016/j.jaci.2019.08.023 -
International Journal of Molecular... May 2021Mastocytosis is a heterogeneous group of hematologic neoplasms defined by an accumulation of neoplastic mast cells (MC) in the skin, bone marrow, and other visceral...
Mastocytosis is a heterogeneous group of hematologic neoplasms defined by an accumulation of neoplastic mast cells (MC) in the skin, bone marrow, and other visceral organs [...].
Topics: Bone Marrow; Diagnosis, Differential; Hematologic Neoplasms; Humans; Mast Cells; Mastocytosis; Mastocytosis, Systemic; Skin
PubMed: 34068468
DOI: 10.3390/ijms22095024 -
Ugeskrift For Laeger Feb 2016Mastocytosis is a heterogeneous disease with an increased number and activation of mast cells. Subtypes range from benign to rare aggressive forms, and the disease may... (Review)
Review
Mastocytosis is a heterogeneous disease with an increased number and activation of mast cells. Subtypes range from benign to rare aggressive forms, and the disease may affect people of all ages. The pathogenesis involves mutations in the KIT gene in both children and adult patients. Estimated prevalence is one per 10,000, but the disease is very likely underdiagnosed. The diagnosis may be challenging and patients may present to several medical specialties. This article presents an overview of clinical signs and symptoms as well as a diagnostic algorithm and treatment options of mastocytosis.
Topics: Adult; Algorithms; Anaphylaxis; Child; Humans; Mastocytosis; Osteoporosis
PubMed: 27063008
DOI: No ID Found -
Current Pharmaceutical Design 2023Anaphylaxis should be clinically diagnosed with immediate recognition, whereas, despite advances in the field of allergy, the symptoms of anaphylaxis remain to be... (Review)
Review
Anaphylaxis should be clinically diagnosed with immediate recognition, whereas, despite advances in the field of allergy, the symptoms of anaphylaxis remain to be under-recognized, diagnosis is often missed, and treatment is often delayed. Anaphylaxis presents with symptoms in a spectrum of severity, ranging from mild objective breathing problems to circulatory shock and/or collapse. Indeed, anaphylaxis management frequently relies on a 'one-size-fits-all approach' rather than a precision medicine care model, despite the evidence that anaphylaxis is a heterogeneous condition with differences in causative agents, clinical presentation, and host susceptibility. The key important risk factors for severe anaphylaxis and mortality are certain age groups or certain stages of life (infants, elderly and pregnant women), augmenting factors (physical exercise, alcohol consumption, menstruation, acute infections), concurrent use of some medications (beta-adrenergic blockers (β-blockers) and angiotensin-converting enzyme (ACE) inhibitors, non-steroidal anti-inflammatory drugs (NSAIDs), and proton pump inhibitors (PPIs), and concomitant diseases (i.e. asthma, cardiovascular disease, mastocytosis). The present review aims to collectively address the patient groups who are at high risk of having anaphylaxis, those who have a more severe course, those that are difficult to diagnose, and require a special approach in treatment. Therefore, the risky populations like the elderly, pregnant women, patients receiving β- blockers or ACE inhibitors, those with concomitant cardiovascular diseases, asthma, and mastocytosis, or those having higher baseline serum tryptase levels are discussed, including their clinical presentations and treatment strategies. Additionally, anaphylaxis during the perioperative period is addressed.
Topics: Pregnancy; Humans; Female; Aged; Anaphylaxis; Risk Factors; Angiotensin-Converting Enzyme Inhibitors; Adrenergic beta-Antagonists; Mastocytosis; Cardiovascular Diseases; Asthma
PubMed: 36503444
DOI: 10.2174/1381612829666221207105214 -
Annual Review of Pathology Jan 2017Systemic mastocytosis is a clonal disorder of mast cells that may variably present with characteristic skin lesions, episodes of mast cell mediator release, and... (Review)
Review
Systemic mastocytosis is a clonal disorder of mast cells that may variably present with characteristic skin lesions, episodes of mast cell mediator release, and disturbances of hematopoiesis. No curative therapy presently exists. Conventional management has relied on agents that antagonize mediators released by mast cells, inhibit mediator secretion, or modulate mast cell proliferation. Recent advances in the molecular understanding of the pathophysiology of systemic mastocytosis have provided new therapeutic considerations, including new and novel tyrosine kinase inhibitors.
Topics: Animals; Humans; Mast Cells; Mastocytosis
PubMed: 28135563
DOI: 10.1146/annurev-pathol-052016-100312 -
Veterinary and Comparative Oncology Mar 2018Mast cell tumors (MCT) are common splenic tumors in cats, but there is limited information on treatment outcomes of cats with this disease.
BACKGROUND
Mast cell tumors (MCT) are common splenic tumors in cats, but there is limited information on treatment outcomes of cats with this disease.
MATERIALS AND METHODS
This retrospective study evaluated treatment outcomes in 64 cats with splenic MCT. Cats were categorized into the following treatment groups: splenectomy (A, n = 20); splenectomy with chemotherapy (B, n = 20); chemotherapy alone (C, n = 15); or supportive care (D, n = 9).
RESULTS
Median tumor specific survival (MTSS) was: 856, 853, 244, 365 days for groups A, B, C, and D, respectively. The MTSS was not significantly different between the 4 groups. However, comparing cats that had splenectomy (A and B) versus those that did not (C and D), the MTSS was 856 and 342 days, respectively (p=0.008). None of the prognostic factors analyzed significantly influenced survival.
CONCLUSION
Splenectomy (+/- chemotherapy) significantly prolongs survival in cats with mast cell tumors. The role of chemotherapy remains unknown.
Topics: Animals; Antineoplastic Agents; Cat Diseases; Cats; Combined Modality Therapy; Female; Male; Mastocytosis; Prognosis; Retrospective Studies; Splenectomy; Splenic Neoplasms; Treatment Outcome
PubMed: 28168776
DOI: 10.1111/vco.12305 -
Pediatric Allergy and Immunology :... Jan 2022Idiopathic anaphylaxis (AI) refers to anaphylaxis without a recognizable cause after a comprehensive allergic workup. The diagnostic approach usually includes an...
Idiopathic anaphylaxis (AI) refers to anaphylaxis without a recognizable cause after a comprehensive allergic workup. The diagnostic approach usually includes an accurate clinical history aimed at excluding both the most and the less frequent causes of anaphylaxis and all pathologies that may resemble anaphylaxis. AI is more common in adults than in children. The epidemiology of AI has been reduced in recent years, probably to increase knowledge and discover new clinical entities, such as the α-gal anaphylaxis. Anaphylaxis results from the massive activation of the mast cells (MCs). Thus, it is also necessary to exclude MC disorders, such as mastocytosis and mast cell activation syndrome, and α-tryptasemia, which may manifest with IA symptoms.
Topics: Adult; Anaphylaxis; Cell Count; Child; Humans; Mast Cell Activation Syndrome; Mast Cells; Mastocytosis; Tryptases
PubMed: 35080312
DOI: 10.1111/pai.13629 -
Immunology and Allergy Clinics of North... Nov 2023Patients with mastocytosis have an increased risk for mast cell activation events including anaphylaxis when exposed to certain drugs and Hymenoptera venom. Hypotension... (Review)
Review
Patients with mastocytosis have an increased risk for mast cell activation events including anaphylaxis when exposed to certain drugs and Hymenoptera venom. Hypotension and cardiovascular collapse without skin or other systemic manifestations can occur after Hymenoptera stings, during the perioperative period, and after exposure to nonsteroidal ntiinflammatory drugs, opioids, and other mast cell activating medications, including vancomycin and quinolones. This chapter reviews the epidemiology, mechanisms, diagnosis, management, and treatment options for Hymenoptera venom and drug-induced reactions in patients with mastocytosis.
Topics: Animals; Humans; Hymenoptera; Venom Hypersensitivity; Insect Bites and Stings; Mastocytosis; Anaphylaxis; Arthropod Venoms
PubMed: 37758407
DOI: 10.1016/j.iac.2023.04.002 -
Acta Clinica Belgica Aug 2023Mastocytosis is a complex heterogenous multisystem disorder that is characterized by pathologic activation or accumulation of neoplastic mast cells (MCs) in one or more... (Review)
Review
Mastocytosis is a complex heterogenous multisystem disorder that is characterized by pathologic activation or accumulation of neoplastic mast cells (MCs) in one or more organs. This clonal MC expansion is often associated with a somatic gain-of-function mutation (D816V in most of the cases) in the KIT gene, encoding for the MC surface receptor KIT (CD117), a stem cell growth factor receptor. Based on clinical and biochemical criteria, the World Health Organization (WHO) divided mastocytosis into different subclasses. The exact prevalence of mastocytosis remains elusive, but it is estimated that the disease affects approximately 1 in 10,000 persons. The clinical presentation of mastocytosis varies significantly, ranging from asymptomatic patients to a life-threatening disease with multiple organ involvement, potentially leading to cytopenia, malabsorption, hepatosplenomegaly, lymphadenopathy, ascites or osteolytic bone lesions with pathological fractures. Patients with mastocytosis may experience symptoms related to release of MC mediators, such as flushing or diarrhea or even more severe symptoms such as anaphylaxis. Recently, a new genetic trait, hereditary alpha tryptasemia (HaT), was described which involves a copy number variation in the TPSAB1-gene. Its role as standalone multisystem syndrome is heavily debated. There is emerging evidence suggesting there might be a link between HaT and due to the increased prevalence of HaT in patients with SM. The aim of this review is to provide a practical roadmap for diagnosis and management of mastocytosis and its associated entities, since there are still many misconceptions about these topics. AdvSM: Advanced systemic mastocytosis; ASM: Aggressive systemic mastocytosis; aST: acute serum tryptase; BM: Bone marrow; BMM: Bone marrow mastocytosis; bST: baseline serum tryptase; CM: Cutaneous mastocytosis; DCM: Diffuse cutaneous mastocytosis; HVA: Hymenoptera venom allergy; HaT: Hereditary alpha tryptasemia; ISM: Indolent systemic mastocytosis; MC: Mast cell; MCA: Mast cell activation; MCAS: Mast cell activation syndrome; MCL: Mast cell leukemia; MIS: Mastocytosis in the skin; MMAS: Monoclonal mast cell activation syndrome; MPCM: Maculopapular cutaneous mastocytosis; SM: Systemic mastocytosis; SM-AHN: Systemic mastocytosis with associated hematological neoplasm; SSM: Smouldering systemic mastocytosis; VIT: Venom immunotherapy.
Topics: Humans; Mastocytosis, Systemic; Tryptases; DNA Copy Number Variations; Mastocytosis; Mastocytosis, Cutaneous
PubMed: 36259506
DOI: 10.1080/17843286.2022.2137631 -
American Journal of Clinical Pathology Feb 2021
Review
Topics: Education; Eosinophilia; Hematologic Neoplasms; Humans; Hypereosinophilic Syndrome; Leukemia; Mastocytosis; Pathology, Clinical; Sarcoma, Myeloid
PubMed: 33367532
DOI: 10.1093/ajcp/aqaa206