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Review Article

Often seen, rarely recognized: mast cell activation disease – a guide to diagnosis and therapeutic options

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Pages 190-201 | Received 14 Jan 2016, Accepted 28 Feb 2016, Published online: 25 Mar 2016

References

  • Horny HP, Metcalfe DD, Bennett JM, Bain BJ, Akin C, Escribano L, et al. Mastocytosis. In: Swerdlow SH, Campo E, Harris NL, eds. WHO classification of tumors of hematopoietic and lymphoid tissues. 4th ed, pp. 54–63. Lyon: International Agency for Research on Cancer, 2008.
  • Akin C, Metcalfe DD. The biology of Kit in disease and the application of pharmacogenetics. J Allergy Clin Immunol. 2004;114:13–19.
  • D’Ambrosio C, Akin C, Wu Y, Magnuson MK, Metcalfe DD. Gene expression analysis in mastocytosis reveals a highly consistent profile with candidate molecular markers. J Allergy Clin Immunol. 2003;112:1162–70.
  • Orfao A, Garcia-Montero AC, Sanchez L, Escribano L. Recent advances in the understanding of mastocytosis: the role of KIT mutations. Br J Haematol. 2007;138:12–30.
  • Mayerhofer M, Gleixner KV, Hoelbl A, Florian S, Hoermann G, Aichberger KJ, et al. Unique effects of KIT D816V in BaF3 cells: induction of cluster formation, histamine synthesis, and early mast cell differentiation antigens. J Immunol. 2008;180:5466–76.
  • Roberts LJ, Oates JA. Biochemical diagnosis of systemic mast cell disorders. J Invest Dermatol. 1991;96:19S–25.
  • Sonneck K, Florian S, Müllauer L, Wimazal F, Födinger M, Sperr WR, et al. Diagnostic and subdiagnostic accumulation of mast cells in the bone marrow of patients with anaphylaxis: monoclonal mast cell activation syndrome. Int Arch Allergy Immunol. 2007;142:158–64.
  • Akin C, Scott LM, Kocabas CN, Kushnir-Sukhov N, Brittain E, Noel P, et al. Demonstration of an aberrant mast-cell population with clonal markers in a subset of patients with “idiopathic anaphylaxis”. Blood. 2007;110:2331–3.
  • Molderings GJ, Kolck UW, Scheurlen C, Brüss M, Homann J, Von Kügelgen I. Multiple novel alterations in Kit tyrosine kinase in patients with gastrointestinally pronounced systemic mast cell activation disorder. Scand J Gastroenterol. 2007;42:1045–53.
  • Molderings GJ, Meis K, Kolck UW, Homann J, Frieling T. Comparative analysis of mutation of tyrosine kinase Kit in mast cells from patients with systemic mast cell activation syndrome and healthy subjects. Immunogenetics. 2010;62:721–7.
  • Molderings GJ. The genetic basis of mast cell activation disease-looking through a glass darkly. Crit Rev Oncol Hematol. 2015;93:75–89.
  • Ibelgaufts H. “MastCells” in COPE: Cytokines and Cells Online Pathfinder Encyclopaedia, 2015. Available at: http://www.cells-talk.com/index.php/page/copelibrary?key=mast%20cells (accessed 10 March 2016).
  • Amon U, Hartmann K, Horny H-P, Nowak A. Mastocytosis-an update. J Dtsch Dermatol Ges. 2010;8:695–711.
  • Jennings S, Russell N, Jennings B, Slee V, Sterling L, Castells M, et al. The Mastocytosis Society survey on mast cell disorders: patient experiences and perceptions. J Allergy Clin Immunol Pract. 2014;2:70–6.
  • Afrin LB. Polycythemia from mast cell activation syndrome: lessons learned. Am J Med Sci. 2011;342:44–9.
  • Afrin LB. Mast cell activation disorder masquerading as pure red cell aplasia. Int J Hematol. 2010;91:907–8.
  • Marshall A, Kavanagh RT, Crisp AJ. The effect of pamidronate on lumbar spine bone density and pain in osteoporosis secondary to systemic mastocytosis. Br J Rheumatol. 1997;36:393–6.
  • Theoharides TC. Mast cells in irritable bowel syndrome and ulcerative colitis: function not numbers is what makes all the difference. Dig Dis Sci. 2014;59:897–8.
  • Frieling T, Meis K, Kolck UW, Homann J, Hülsdonk A, Haars U, et al. Evidence for mast cell activation in patients with therapy-resistant irritable bowel syndrome. Z Gastroenterol. 2011;49:191–4.
  • Rafii M, Firooznia H, Golimbu C, Balthazar E. Pathologic fracture in systemic mastocytosis: radiographic spectrum and review of the literature. Clin Orthop Relat Res. 1983;180:260–7.
  • Crivellato E, Ribatti D. The mast cell: an evolutionary perspective. Biol Rev Camb Philos Soc. 2010;85:347–60.
  • Poglio S, De Toni-Costes F, Arnaud E, Laharrague P, Espinosa E, Casteilla L, et al. Adipose tissue as a dedicated reservoir of functional mast cell progenitors. Stem Cells. 2010;28:2065–72.
  • Gri G, Frossi B, D'Inca F, Danelli L, Betto E, Mion F, et al. Mast cell: an emerging partner in immune interaction. Front Immunol. 2012;3:120.
  • Theoharides TC, Conti P. Mast cells: the Jekyll and Hyde of tumor growth. Trends Immunol. 2004;25:235–41.
  • Lundequist A, Pejler G. Biological implications of preformed mast cell mediators. Cell Mol Life Sci. 2011;68:965–75.
  • Dvorak AM. Piecemeal degranulation of basophils and mast cells is effected by vesicular transport of stored secretory granule contents. Chem Immunol Allergy. 2005;85:135–84.
  • Theoharides TC, Kempuraj D, Tagen M, Conti P, Kalogeromitros D. Differential release of mast cell mediators and the pathogenesis of inflammation. Immunol Rev. 2007;217:65–78.
  • Escribano L, Orfao A, Díaz-Agustin B, Villarrubia J, Cerveró C, López A, et al. Indolent systemic mast cell disease in adults: immunophenotypic characterization of bone marrow mast cells and its diagnostic implications. Blood. 1998;91:2731–6.
  • Garcia-Montero AC, Jara-Acevedo M, Teodosio C, Sanchez ML, Nunez R, Prados A, et al. KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients. Blood. 2006;108:2366–72.
  • Valent P, Akin C, Escribano L, Födinger M, Hartmann K, Brockow K, et al. Standards and standardization in mastocytosis: consensus statements on diagnostics, treatment recommendations and response criteria. Eur J Clin Invest. 2007;37:435–53.
  • Haenisch B, Nöthen MM, Molderings GJ. Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics. Immunology. 2012;137:197–205.
  • Molderings GJ, Haenisch B, Bogdanow M, Fimmers R, Nöthen MM. Familial occurrence of systemic mast cell activation disease. PLoS One. 2013;8:e76241–24098785.
  • Haenisch B, Fröhlich H, Herms S, Molderings GJ. Evidence for contribution of epigenetic mechanisms in the pathogenesis of systemic mast cell activation disease. Immunogenetics. 2014;66:287–97.
  • Nurmi K, Methuen T, Mäki T, Lindstedt KA, Kovanen PT, Sandler C, et al. Ethanol induces apoptosis in human mast cells. Life Sci. 2009;85:678–84.
  • Afrin LB, Khoruts A. Mast cell activation disease and microbiotic interactions. Clin Ther. 2015;37:941–53.
  • Berezowska S, Flaig MJ, Ruëff F, Walz C, Haferlach T, Krokowski M, et al. Adult-onset mastocytosis in the skin is highly suggestive of systemic mastocytosis. Mod Pathol. 2014;27:19–29.
  • Akin C, Valent P, Metcalfe DD. Mast cell activation syndrome: proposed diagnostic criteria. J Allergy Clin Immunol. 2010;126:1099–1104e4.
  • Picard M, Giavina-Bianchi P, Mezzano V, Castells M. Expanding spectrum of mast cell activation disorders: monoclonal and idiopathic mast cell activation syndromes. Clin Ther. 2013;35:548–62.
  • Cardet JC, Castells MC, Hamilton MJ. Immunology and clinical manifestations of non-clonal mast cell activation syndrome. Curr Allergy Asthma Rep. 2013;13:10–18.
  • Afrin LB, Molderings GJ. A concise, practical guide to diagnostic assessment for mast cell activation disease. World J Hematol. 2014;3:1–17. Available at: http://www.wjgnet.com/2218-6204/journal/v3/i1/index.htm.
  • Cohen SS, Skovbo S, Vestergaard H, Kristensen T, Møller M, Bindslev-Jensen C, et al. Epidemiology of systemic mastocytosis in Denmark. Br J Haematol. 2014;166:521–8.
  • Van Doormaal JJ, Arends S, Brunekreeft KL, van der Wal VB, Sietsma J, van Voorst Vader PC, et al. Prevalence of indolent mastocytosis in a Dutch region. J Allergy Clin Immunol. 2013;131:1429–31.e1.
  • Lucas HJ, Brauch CM, Settas L, Theoharides TC. Fibromyalgia – new concepts of pathogenesis and treatment. Int J Immunopathol Pharmacol. 2006;19:5–10.
  • Blanco I, Béritze N, Argüelles M, Cárcaba V, Fernández F, Janciauskiene S, et al. Abnormal overexpression of mastocytes in skin biopsies of fibromyalgia patients. Clin Rheumatol. 2010;29:1403–12.
  • Lim K-H, Tefferi A, Lasho TL, Finke C, Patnaik M, Butterfield JH, et al. Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors. Blood. 2009;113:5727–36.
  • Escribano L, Alvarez-Twose I, Sánchez-Muñoz L, Garcia-Montero A, Núñez R, Almeida J, et al. Prognosis in adult indolent systemic mastocytosis: a long-term study of the Spanish Network on Mastocytosis in a series of 145 patients. J Allergy Clin Immunol. 2009;124:514–21.
  • Erben P, Schwaab J, Metzgeroth G, Horny HP, Jawhar M, Sotlar K, et al. The KIT D816V expressed allele burden for diagnosis and disease monitoring of systemic mastocytosis. Ann Hematol. 2014;93:81–8.
  • Sperr WR, Escribano L, Jordan JH, Schernthaner GH, Kundi M, Horny HP, et al. Morphologic properties of neoplastic mast cells: delineation of stages of maturation and implication for cytological grading of mastocytosis. Leuk Res. 2001;25:529–36.
  • Valent P, Akin C, Arock M, Brockow K, Butterfield JH, Carter MC, et al. Definitions, criteria, and global classification of mast cell disorders with special reference to mast cell activation syndromes: a consensus proposal. Int Arch Allergy Immunol. 2012;157:215–25.
  • Sánchez-Muñoz L, Alvarez-Twose I, García-Montero AC, Teodosio C, Jara-Acevedo M, Pedreira CE, et al. Evaluation of the WHO criteria for the classification of patients with mastocytosis. Mod Pathol. 2011;24:1157–68.
  • Butterfield JH, Li C-Y. Bone marrow biopsies for the diagnosis of systemic mastocytosis: is one biopsy sufficient? Am J Clin Pathol. 2004;121:264–7.
  • Molderings GJ, Brettner S, Homann J, Afrin LB. Mast cell activation disease: a concise practical guide for diagnostic workup and therapeutic options. J Hematol Oncol. 2011;4:10. doi:10.1186/1756-8722-4-10.
  • Pardanani A, Chen D, Abdelrahman RA, Reichard KK, Zblewski D, Wood AJ, et al. Clonal mast cell disease not meeting WHO criteria for diagnosis of mastocytosis: clinicopathologic features and comparison with indolent mastocytosis. Leukemia. 2013;27:2091–4.
  • Biesiekierski JR, Newnham ED, Irving PM, Barrett JS, Haines M, Doecke JD, et al. Gluten causes gastrointestinal symptoms in subjects without celiac disease: a double-blind randomized placebo-controlled trial. Am J Gastroenterol. 2011;106:508–14.
  • Molderings GJ, Raithel M, Kratz F, Azemar M, Haenisch B, Harzer S, et al. Omalizumab treatment of systemic mast cell activation disease: experiences from four cases. Intern Med. 2011;50:1–5.
  • Afrin LB. Mast cell activation syndrome masquerading as agranulocytosis. Mil Med. 2012;177:113–17.
  • Galli SJ, Costa JJ. Mast-cell-leukocyte cytokine cascades in allergic inflammation. Allergy. 1995;50:851–62.
  • Gotlib J, George TI, Corless C, Linder A, Ruddell A, Akin C, et al. The Kit tyrosine kinase inhibitor midostaurine (PKC412) exhibits a high response rate in aggressive systemic mastocytosis (ASM): interim results of a phase II trial. Blood. 2007;110:3536.
  • Valent P, Sperr WR, Akin C. How I treat patients with advanced systemic mastocytosis. Blood. 2010;116:5812–7.
  • Butterfield JH. Interferon treatment for hypereosinophilic syndromes and systemic mastocytosis. Acta Haematol. 2005;114:26–40.
  • Ustun C, Reiter A, Scott BL, Nakamura R, Damaj G, Kreil S, et al. Hematopoietic stem-cell transplantation for advanced systemic mastocytosis. J Clin Oncol. 2014;32:3264–74.
  • de Olano DG, Twose IA, Esteban López MI, Sánchez-Muñoz L, de Durana MD, Vega A, et al. Safety and effectiveness of immunotherapy in patients with indolent systemic mastocytosis presenting with Hymenoptera venom anaphylaxis. J Allergy Clin Immunol. 2008;121:519–26.
  • Del Mastro A, Petraroli A, Magliacane D, Squeglia V, Pelosi C, Gravante C, et al. Evaluation of the response to anti-mediator therapy in patients with mastocytosis after 2-years of follow-up. Allergy. 2013;68:691.
  • Woidacki K, Jensen F, Zenclussen AC. Mast cells as novel mediators of reproductive processes. Front Immunol. 2013;4:29–23419968.
  • Matito A, Alvarez-Twose I, Morgado JM, Sánchez-Muñoz L, Orfao A, Escribano L. Clinical impact of pregnancy in mastocytosis: a study of the Spanish Network on Mastocytosis (REMA) in 45 cases. Int Arch Allergy Immunol. 2011;156:104–11.
  • Worobec AS, Akin C, Scott LM, Metcalfe DD. Mastocytosis complicating pregnancy. Obstet Gynecol. 2000;95:391–5.
  • Seidel H, Molderings GJ, Oldenburg J, Meis K, Kolck UW, Homann J, et al. Bleeding diathesis in patients with mast cell activation disease. Thromb Haemost. 2011;106:987–9.
  • Schatz M, Zeiger RS, Harden K, Hoffman CC, Chilingar L, Petitti D. The safety of asthma and allergy medications during pregnancy. J Allergy Clin Immunol. 1997;100:301–6.
  • Migalovich-Sheikhet H, Friedman S, Mankuta D, Levi-Schaffer F. Novel identified receptors on mast cells. Front Immunol. 2012;3:238–22876248.
  • He A, Shi GP. Mast cell chymase and tryptase as targets for cardiovascular and metabolic diseases. Curr Pharm Des. 2013;19:1114–25.
  • Passani MB, Blandina P. Histamine receptors in the CNS as targets for therapeutic intervention. Trends Pharmacol Sci. 2011;32:242–9.
  • Paivandy A, Calounova G, Zarnegar B, Ohrvik H, Melo FR, Pejler G. Mefloquine, an anti-malaria agent, causes reactive oxygen species-dependent cell death in mast cells via a secretory granule-mediated pathway. Pharmacol Res Perspect. 2014;2:e00066.
  • Afrin L. Presentation, diagnosis, and management of mast cell activation syndrome. In: Murray D, ed. Mast cells: phenotypic features, biological functions, and role in immunity, pp. 155–231. Happauge, NY: Nova Science Publishers, 2013.

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