Systemic Mastocytosis

Mastocytosis encompasses a heterogeneous group of uncommon diseases, characterised by the proliferation and accumulation of mast cells in different organs and tissues.

The current World Health Organisation (WHO) classification, updated in 2022, distinguishes between eight clinical forms: cutaneous mastocytosis, bone marrow mastocytosis, indolent systemic mastocytosis, smoldering systemic mastocytosis, aggressive systemic mastocytosis, haematological malignancy-associated systemic mastocytosis, mast cell leukaemia and mast cell sarcoma. In addition, the WHO recognises the existence of a biological variant called well-differentiated systemic mastocytosis, which can occur in each subtype of systemic mastocytosis. In the same year, the WHO incorporated some changes into the diagnostic criteria for the disease. As it is a rare condition, its correct identification can be a complex process for the different medical specialities involved in its diagnosis, and it is very important for them to work as a multidisciplinary team.

In order to improve the diagnostic process of mastocytosis and thereby improve the quality of life of patients, the Spanish Group of Advanced Systemic Mastocytosis (GEMAST), belonging to the Spanish Society of Haematology and Haemotherapy (SEHH), has collaborated with Blueprint Medicines and Novartis to develop an application for mobile devices to aid in the identification and diagnosis of systemic mastocytosis. The application includes the changes made by the WHO in the classification and diagnostic criteria of the disease, as well as the REMA score for the selection of patients with systemic symptoms of mastocyte activation without skin lesions who are candidates for a bone marrow study, the criteria proposed by the Spanish Mastocytosis Network (REMA) for the diagnosis of well-differentiated systemic mastocytosis and the most important prognostic scores proposed in recent years.