From the Guidelines
The condition is most accurately referred to as mastocytosis, which is a group of heterogeneous disorders resulting from the clonal proliferation of abnormal mast cells and their accumulation in the skin and/or in various extracutaneous organs. Mastocytosis involves an abnormal accumulation of mast cells in tissues, while mast cell activation syndrome (MCAS) refers to inappropriate activation of mast cells causing symptoms through excessive chemical mediator release 1. The management of patients with mastocytosis requires a multidisciplinary team approach, preferably in specialized medical centers with expertise in the treatment of patients with mast cell disorders 1.
Some key points to consider in the management of mastocytosis include:
- Referral to centers with expertise in mastocytosis is strongly recommended 1
- The identification of KIT D816V mutation and the emergence of novel targeted therapies have significantly improved the diagnosis and treatment of systemic mastocytosis 1
- Certain aspects of clinical care, particularly the diagnosis, assessment, and management of mediator-related symptoms, continue to present challenges 1
- Treatment typically includes antihistamines, mast cell stabilizers, and sometimes leukotriene inhibitors, as well as avoidance of known triggers and carrying an epinephrine auto-injector for severe reactions 1
It's worth noting that mastocytosis is a separate disease entity with its own distinctive clinical and pathologic features, and its management requires a comprehensive and multidisciplinary approach 1. The most recent and highest quality study recommends a multidisciplinary team approach and referral to specialized centers with expertise in mastocytosis 1.
From the Research
Definition and Terminology
- The condition is referred to as mastocytosis, which is a complex disorder characterized by the accumulation of abnormal mast cells in various organs 2, 3, 4, 5, 6.
- It is also known as mast cell disease or mast cell disorder, emphasizing the abnormal proliferation and accumulation of mast cells 5, 6.
Characteristics and Classification
- Mastocytosis is a heterogeneous group of clinical disorders, with varied signs and symptoms depending on the localization of mast cells in different organs 5.
- The condition can be classified into different categories, including cutaneous mastocytosis, systemic mastocytosis, and mast cell leukemia, each with distinct characteristics and clinical manifestations 2, 4, 6.
- Systemic mastocytosis can be further subdivided into indolent, smoldering, aggressive, and associated with hematological neoplasms, with varying degrees of severity and prognosis 4.
Diagnostic Criteria and Features
- The diagnosis of mastocytosis is based on the World Health Organization criteria, which include tryptase level, histopathological and immunophenotypic evaluation of mast cells, and molecular analysis 2, 4.
- A somatic KIT mutation, particularly the D816V mutation, is commonly detected in mast cells and their progenitors 2, 3, 4, 6.
- Clinical features of mastocytosis include flushing, pruritus, abdominal pain, diarrhea, hypotension, syncope, and musculoskeletal pain, resulting from mast cell mediator release and infiltration into target organs 3, 5, 6.