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Patients with Mast Cell Disorders share their experiences

Published online: August 8, 2018

Mast cell disorders (MCD), including mastocytosis and mast cell activation syndrome (MCAS), are characterized by the abnormal proliferation, accumulation, and/or activation of mast cells in tissues. Excessive numbers and/or inappropriate activation of mast cells induces the increase of tryptase, histamine, and other mast cell–derived substances which are associated with a variety of acute and chronic multi-organ symptoms, including, but not limited to, rashes, flushing, gastrointestinal problems, and anaphylaxis. In 2010, The Mastocytosis Society, Inc. (, a United States (US)-based patient support, advocacy, research, and education organization, invited people known or suspected to have an MCD to answer survey questions posted for five weeks on the Internet.

Survey questions related to participants’ recall and perceptions concerning their symptoms, diagnosis, treatment, and other experiences were reported by Russell et al. for 420 valid respondents in The Journal of Allergy and Clinical Immunology: In Practice. (The first set of results was previously published by Jennings et al. in J Allergy Clin Immunol Pract 2014;2:70-6.)

Dermatologists, allergist/immunologists, and hematologists were the leading sources of initial diagnoses. Bone marrow biopsy, an important test for systemic mastocytosis, was recalled by over half of respondents, and most who recalled the test (98.2%) were adults. This and 14 other clinical exams and laboratory tests are reported in the article. The interaction of age and sex with bone density testing is explored. Responses to questions concerning the presence of six common diseases were: 31.4% with osteopenia or osteoporosis, 2.9% with coronary artery disease, 2.6% having had a heart attack, 23.0% with high blood pressure, 21.5% with high cholesterol, and 13.9% with various types of cancer. Of those responding to questions about diet, 10.7% had been referred to a dietitian by a physician. “Low histamine” diets had been recommended by a physician to 12.0% and by a dietitian/nutritionist to 5.8%, although there is no current evidence to support efficacy of these diets. “Low histamine” diets had been followed by 24.6% and an “elimination” diet by 34.6%. Although this type of study was limited in its ability to detect familial occurrence of MCD, its perceived occurrence was reported by over one-fifth of respondents. Perceptions concerning US medical care indicated a need for increased numbers of MCD specialists and care centers, development of collaborative networks with local physicians and improved communication between physicians and their MCD patients.

Guidelines for the diagnosis of some forms of MCD are still under investigation and no medical records were reviewed for this study. Accordingly, the survey likely included some patients without a definitive diagnosis of any form of MCD. In addition, respondents’ perceptions of disease may have differed from actual disease. Nevertheless, the authors believe that the inclusion of a broad spectrum of both confirmed and suspected MCD cases describes the reality of issues presented in daily practice, and emphasizes the need for more research and funding in this area. Discussion incorporates existing MCD specialist recommendations for diagnostic testing and follow-up.

The Journal of Allergy and Clinical Immunology: In Practice is an official journal of the AAAAI, focusing on practical information for the practicing clinician.

The Mastocytosis Society Survey on Mast Cell Disorders: Part 2—Patient Clinical Experiences and Beyond
By Nancy Russell, Susan Jennings, Blair Jennings, Valerie Slee, Lisa Sterling, Mariana Castells, Peter Valent, Cem Akin