Immune deficiencies, infection, and systemic immune disorders
Mast cell activation syndrome: A newly recognized disorder with systemic clinical manifestations

https://doi.org/10.1016/j.jaci.2011.04.037Get rights and content

Background

Diagnostic criteria for mast cell (MC) activation syndrome have been recently proposed, but clinical studies to validate these criteria are lacking.

Objective

We sought to determine the clinical manifestations of this newly recognized syndrome in a cohort of patients.

Methods

We prospectively evaluated 18 patients seen at our institution with MC activation syndrome from 2006 to 2009. Patients enrolled had at least 4 of the signs and symptoms of abdominal pain, diarrhea, flushing, dermatographism, memory and concentration difficulties, or headache. Response to treatment with anti-MC mediator medications was assessed based on established criteria. Laboratory tests indicating MC mediator release and histopathology and immunohistochemical studies on gastrointestinal biopsy samples were performed.

Results

Ninety-four percent of the patients had abdominal pain, 89% had dermatographism, 89% had flushing, and 72% had the constellation of all 3 symptoms. Patients additionally had headache, diarrhea, and memory and concentration difficulties. All patients had at least 1 positive laboratory test result for an increased MC mediator level. On the basis of the response to treatment criteria, 67% of the patients in the cohort had either a complete or major regression in symptoms while taking medications targeting MC mediators. There was no significant difference in the numbers of intestinal mucosal MCs between our patients and healthy control subjects.

Conclusion

MC activation syndrome might be the underlying cause of unexplained symptoms when several organ systems are involved, such as the gastrointestinal tract and the skin. It is especially important to be able to recognize the constellation of clinical features because response to anti-MC mediator medications is often excellent.

Section snippets

Patients

Eighteen adult patients who had characteristic signs and symptoms of MC mediator release were prospectively identified from 2006 to 2009 in an allergy clinic (referred to rule out mastocytosis) and a gastroenterology clinic (referred for unexplained abdominal pain) at a tertiary care center (Brigham and Women’s Hospital, Boston, Mass). This study was designed and initiated several years before 2010, when the current proposed diagnostic guidelines for MCAS by Akin et al15 were published. We used

Patients’ characteristics

We identified 18 patients in our clinics (Table I) with features consistent with the diagnostic criteria for MCAS used in the current study. All but 2 of these patients were women, and age at the time of diagnosis ranged from 20 to 60 years. The most frequent age group represented was 40 to 49 years (44% of patients). Importantly, patients were symptomatic for a mean of 4.6 years (range, 1-9 years) before being given a diagnosis of MCAS. A high incidence of allergies among the patients in our

Discussion

We have identified a group of patients at our tertiary care center with MCAS based on the characteristic symptoms, laboratory evidence of the presence of MC mediators, and response to anti-MC mediator medication. These patients met our inclusion criteria for MCAS, as well as the criteria established by Akin et al.15 Final criteria for this syndrome will have to be established after prospective studies are performed on larger cohorts of patients. Most of our patients had frequent

References (22)

  • S. Nakajima et al.

    Histological aspects and role of mast cells in Helicobacter pylori-infected gastritis

    Aliment Pharmacol Ther

    (2004)
  • Cited by (118)

    • Standardized Quantification of Mast Cells in the Gastrointestinal Tract in Adults

      2024, Journal of Allergy and Clinical Immunology: In Practice
    • Approach to Idiopathic Anaphylaxis in Adolescents

      2024, Medical Clinics of North America
    • Gastrointestinal Disease in Mastocytosis

      2023, Immunology and Allergy Clinics of North America
    View all citing articles on Scopus

    Disclosure of potential conflict of interest: C. Akin is a consultant for Novartis and is on the Medical Advisory Board for the Mastocytosis Society. M. C. Castells is a consultant for Merck, receives research support from Ovations for the Cure, and has received funds from the Mastocytosis Society. The rest of the authors have declared that they have no conflict of interest.

    View full text