Working Groups

Mast cell disorders are characterized by abnormal mast cell proliferation/accumulation (mastocytosis), and/or activation [mastocytosis or mast cell activation syndrome (MCAS)], and affect both children and adults; these conditions represent an emerging challenge in allergy and immunology daily practice that can affect both children and adults.

Mastocytosis is a complex heterogenous disorder often associated with a somatic gain-of-function mutation (D816V in most of the cases) in the KIT gene, encoding for the MC surface receptor KIT (CD117), a stem cell growth factor receptor. Based on clinical and biochemical criteria, the World Health Organization (WHO) divided mastocytosis into different subclasses. The clinical presentation of mastocytosis varies significantly, ranging from asymptomatic patients to a life-threatening disease with multiple organ involvement, potentially leading to cytopenia, malabsorption, hepatosplenomegaly, lymphadenopathy, ascites or osteolytic bone lesions with pathological fractures. Mastocytosis patients may have also symptoms related to release of mediators  from mast cells causing a series of severe and recurrent symptoms and this condition named Mast cell activation syndrome (MCAS). These mediators are responsible for the multiple symptoms observed in patients and one of the most severe symptoms is anaphylaxis . The most common types of anaphylaxis are recurrent idiopathic anaphylaxis, hymenoptera anaphylaxis, or drug induced anaphylaxis. Anaphylaxis can also occur during anesthesia, indicating that appropriate perioperative management is critical. Other symptoms which can characterized the onset of this disease can be also  unexlanied osteoporosis or gastro-intestinal symptoms therefore considering that patients can present with such a variety of symptoms, this disease requires a multidisciplinary approach. These diseases is considered rare but, it is widely believed that it is highly underdiagnosed due to the lack of knowledge about it and the very heterogeneous clinical presentations.  Given the low prevalence and non-specific symptoms, a high index of clinical suspicion and growing diffusion of highly sensitive diagnostic methods I and the creation of multidisciplinary groups dedicated to mastocytosis will allow us to document a greater number of SM diagnoses

In the last years, important progresses have been made such as definition of disease categories, and first studies on disease modifying therapies in Indolent Mastocytosis.

Therefore, it is very important for the EAACI community, to join the forces in a Working Group on Mast Cell Diseases that closely interacts with the WG Hymenoptera, IG Drug Allergy, Dermatology Section and Immunology Section. Moreover, the Working Group on Mast Cell Diseases is a great opportunity for the EAACI for a close collaboration with the European Network on Mastocytosis (ECNM) and American Initiative Mastocytosis (AIM), and the International Associations of patients who are very active in this field.

A. Coordination of research and education for the development of Guidelines and Position Papers in the management of these patients at a time when pharmaceutical companies are improving research in this field, investing time and resources for this disease.

B.Close Collaboration with other International group already active in this field of researches (ECNM (European Network on Mastocytosis), AIM (American Initiative Mastocytosis) and WAO (World Allergy Organization)

C. Collaborative work with EAACI Sections, Immunology, Asthma, Pediatrics, Dermatology and Ig on Drug allergy and WGs of Hymenoptera venom Allergy.

D. Promote organized Multicenter Studies and attract the support of pharmaceutical companies.

E. Development of educational content on Mast Celle diseases  for the EAACI Knowledge Hub.

F. Development of an EAACI Schools and Focused Meetings on Mast Cell Diseases.