In 2018, The Mastocytosis Society, Inc. (TMS) conducted a survey on Mast Cell Activation Syndrome (MCAS) with over 1700 respondents, which included participants with Mastocytosis or Hereditary Alpha-Tryptasemia (HAT) who may also have MCAS. Nearly 50% of survey respondents also reported physician-diagnosed Dysautonomia/Postural Orthostatic Tachycardia Syndrome (POTS). Studies into the relationship between MCAS and dysautonomia are needed to determine the effects that each disease may have on the development and exacerbation of the other, and the influence that mast cell activation, in general, may have on dysautonomia and the varied symptoms that patients experience. Identification of novel markers of mast cell activation, appropriate and effective treatments, and improved MCAS subtyping are key research areas in need of funding.

In recognition of MCAS research needs, TMS is excited to announce that Matthew Hamilton, MD, as principle investigator, has been awarded The 2019 American Academy of Allergy, Asthma and Immunology (AAAAI)/TMS Research Award in Mast Cell Disorders Including Mastocytosis and Mast Cell Activation Syndrome! Dr. Hamilton, along with senior investigator, Mariana Castells, MD, PhD, Peter Novak, MD, PhD, and Olga Pozdnyakova, MD, PhD, all of Brigham and Women’s Hospital/Harvard University, and Sarah Glover, DO, of the University of Mississippi, were awarded $60,000 in funding (supported equally by TMS and the AAAAI) for their research proposal titled, “A Novel Approach to Characterize and Focus Treatment in Patients with MCAS and Dysautonomia”.

The funded study will be a multidisciplinary, collaborative effort by specialists in gastroenterology, immunology, neurology and pathology to explore the association between mast cell activation and dysautonomia and to better characterize gastrointestinal symptoms and presentation in patients with MCAS. Comprehensive gastrointestinal and autonomic evaluation will be performed, symptoms and quality of life assessed, laboratory tests conducted during times of both symptoms and symptom remission, and the effect of MCAS-directed therapies on symptoms and gastrointestinal motility will be determined. The investigators anticipate that their work will result in improved ability to subtype patients with MCAS into diagnostically and clinically defined groups that will allow physicians to provide better approaches to treatment.

The Brigham and Women’s Hospital Mastocytosis Center has a large cohort of MCAS patients with and without dysautonomia and with gastrointestinal manifestations. Their MCAS patient database, along with the extensive expertise in the study of mast cell diseases of all the researchers involved in this study, allow this group to be very well-positioned to conduct these investigations.

TMS is dedicated to supporting those affected by any mast cell disease. Symptoms of mast cell activation can be a significant problem for patients with MCAS, mastocytosis, and HAT, as well as for those experiencing chronic, often debilitating mast cell activation, but who are still seeking a cause for these symptoms. It is hoped that the studies conducted by Dr. Hamilton and co-investigators will provide for improved MCAS diagnosis and therapy guidance, mast cell activation marker development, further avenues of research into the interplay between mast cell activation and dysautonomia, and an increase our general understanding of mast cell activation in a manner ultimately applicable to many patients with a mast cell disease who suffer from severe mast cell activation-related symptoms. In addition, TMS joins the AAAAI in funding research such as this project in order to increase our overall knowledge and awareness about MCAS and all mast cell diseases, which will ultimately improve access to care, currently an unmet need for many patients in our mast cell disease community.