Mast cell activation disorders
- Cem Akin, MD, PhD
Cem Akin, MD, PhD
- Associate Professor of Medicine
- Harvard Medical School
- Director, Mastocytosis Center
- Brigham and Women's Hospital
Patients with mast cell activation disorders present with recurrent symptoms of mast cell activation, in combination with objective evidence of mast cell-mediator release. Two mast cell activation disorders have been proposed and defined:
●Monoclonal mast cell activation syndrome (MMAS)
●Mast cell activation syndrome (MCAS)
This topic will review the classification of mast cell disorders and then focus on MMAS and MCAS, describing the clinical manifestations, evaluation, diagnosis, and treatment of these disorders. By the time a mast cell disorder is considered, patients have typically undergone evaluation for a wide array of disorders, both allergic and nonallergic. Disorders that can mimic allergic reactions and anaphylaxis are discussed separately. (See "Differential diagnosis of anaphylaxis in children and adults".)
CLASSIFICATION OF MAST CELL DISORDERS
Mast cell disorders can be broadly divided into three types: primary, secondary, and idiopathic (table 1). All of these disorders present with signs and symptoms of mast cell activation and differ in severity and involvement of various organ systems. Within this framework, monoclonal mast cell activation syndrome (MMAS) is best classified as a primary mast cell disorder, while mast cell activation syndrome (MCAS) is considered an idiopathic disorder.
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- In the United States, centers with expertise include the Brigham and Women's Hospital (Massachusetts), Mayo Clinic (Minnesota), Stanford University (California), and the National Institutes of Health (NIH) (Maryland). Other centers with expertise exist nationally and worldwide.
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- CLASSIFICATION OF MAST CELL DISORDERS
- Primary mast cell disorders
- - Mastocytosis
- - Monoclonal mast cell activation syndrome
- Secondary mast cell activation disorders
- Idiopathic mast cell activation
- - Mast cell activation syndrome
- CLINICAL MANIFESTATIONS OF MAST CELL ACTIVATION
- Frequency and severity of symptoms
- Provoking exposures and activities
- Specific organ systems
- - Skin and soft tissues
- - Gastrointestinal
- - Respiratory and naso-ocular
- - Cardiovascular
- - Musculoskeletal
- - Neuropsychiatric
- WHEN TO REFER
- DIAGNOSTIC APPROACH AND ALGORITHM
- Indications for evaluation
- Clinical history
- Determine if urticaria pigmentosa is present
- Determine baseline serum tryptase and need for bone marrow biopsy
- - Bone marrow findings in MMAS and MCAS
- - The utility of other tissue biopsies
- Exclude allergic disease or other causes of secondary mast cell activation
- Document mast cell mediator release
- Assess response to anti-mediator treatment
- DIAGNOSTIC CRITERIA
- DIFFERENTIAL DIAGNOSIS
- Systemic mastocytosis
- Cutaneous forms of mastocytosis
- Idiopathic anaphylaxis
- MONITORING AND PROGNOSIS