Medical Care. Therapy for systemic mastocytosis (systemic mast cell disease) is primarily symptomatic; no therapy is curative. Treatment modalities include the management of (1) anaphylaxis and related symptoms, (2) pruritus and flushing, and (3) intestinal malabsorption. To understand mast cell activation syndrome (MCAS), you must first have a basic understanding of mast cells. Everyone has mast cells—they are immune system cells that are responsible for how your body reacts to allergens. If you come into contact with an irritant, either internal or external, mast cells produce an allergic reaction.
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Overview Systemic mastocytosis (mas-to-sy-TOE-sis) is a disorder that results in an excessive number of mast cells in your body. Mast cells normally help protect you from disease and aid in wound healing by releasing substances such as histamine and leukotrienes. But if you have systemic mastocytosis, excess mast cells generally build up in your skin, bone marrow, gastrointestinal tract and bones. When triggered, these mast cells release substances that can overwhelm your body and result in signs and symptoms such as facial flushing, itching, a rapid heartbeat, abdominal cramps, lightheadedness or even loss of consciousness. Common triggers include alcohol, temperature changes, spicy foods and certain medications. • Pardanani A. Systemic mastocytosis in adults: 2017 update on diagnosis, risk stratification and management.
American Journal of Hematology. • Mastocytosis. Genetic and Rare Disease Information Center. Accessed Feb.
• Castells MC. Mastocytosis (cutaneous and systemic): Epidemiology, pathogenesis, and clinical manifestations. Accessed Feb. • AskMayoExpert. Systemic mastocytosis.
Rochester, Minn.: Mayo Foundation for Medical Education and Research; 2016. Allscripts EPSi. Mayo Clinic, Rochester, Minn. • Akin C, et al. Systemic mastocytosis: Management and prognosis.
Accessed Feb. • Pardanani A. Systemic mastocytosis: Evolving lessons from large patient registry datasets. American Journal of Hematology.
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• • 43k Downloads • Abstract 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. In most cases, treatment of MCAD is directed primarily at controlling the symptoms associated with MC mediator release. In advanced forms, such as aggressive SM and MCL, agents targeting MC proliferation such as kinase inhibitors may be provided. Targeted therapies aimed at blocking mutant protein variants and/or downstream signaling pathways are currently being developed.
Other targets, such as specific surface antigens expressed on neoplastic MCs, might be considered for the development of future therapies. Since clinicians are often underprepared to evaluate, diagnose, and effectively treat this clinically heterogeneous disease, we seek to familiarize clinicians with MCAD and review current and future treatment approaches. Mast cells (MCs, Fig. ) are immune cells of hematopoietic origin found in all human tissues, especially at the environmental interfaces. They act as both effector and regulatory cells and play a central role in adaptive and innate immunity (Anand et al.; Gri et al.
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