From the Guidelines
Mastocytosis presents with diverse clinical features resulting from mast cell proliferation and mediator release, including cutaneous manifestations such as urticaria pigmentosa, diffuse cutaneous mastocytosis, and telangiectasia macularis eruptiva perstans, as well as systemic symptoms like flushing, pruritus, and abdominal pain, as noted in the most recent guidelines 1.
Clinical Features of Mastocytosis
The clinical features of mastocytosis can be categorized into cutaneous and systemic manifestations. Cutaneous manifestations include:
- Urticaria pigmentosa (reddish-brown macules or papules that urticate when rubbed)
- Diffuse cutaneous mastocytosis
- Telangiectasia macularis eruptiva perstans Systemic symptoms involve:
- Flushing
- Pruritus
- Abdominal pain
- Diarrhea
- Nausea
- Vomiting
- Hypotension due to mast cell mediator release
Diagnosis and Management
Diagnosis typically requires demonstration of abnormal mast cell infiltration in tissues, with detection of the KIT D816V mutation and elevated serum tryptase levels supporting the diagnosis, as recommended by the NCCN guidelines 1. The management of mastocytosis requires a multidisciplinary team approach, preferably in specialized centers with expertise in the treatment of patients with mast cell disorders, and may involve the use of mast cell-mediator controller medications, as well as other therapies aimed at suppressing skin and systemic mast cell mediator related symptoms 1.
Recent Updates and Recommendations
Recent updates to the NCCN guidelines for systemic mastocytosis provide evidence- and consensus-based recommendations for the diagnosis and comprehensive care of patients with systemic mastocytosis, including the use of new targeted therapies and the importance of enrollment in well-designed clinical trials investigating state-of-the-art therapeutic strategies 1.
Key Considerations
Key considerations in the management of mastocytosis include:
- Referral to specialized centers with expertise in the management of mastocytosis
- Multidisciplinary collaboration with subspecialists
- Use of mast cell-mediator controller medications
- Enrollment in clinical trials investigating new therapeutic strategies
- Monitoring for mast cell activation symptoms and eligible organ damage findings
- Education of patients and caregivers about the signs and symptoms of mastocytosis and the importance of prompt medical attention in case of anaphylaxis or other emergencies.
From the Research
Clinical Features of Mastocytosis
- Mastocytosis is characterized by abnormal mast cell accumulation in skin and internal organs, leading to a variety of symptoms including pruritus, flushing, and life-threatening anaphylaxis 2, 3.
- The disease can present with cutaneous symptoms such as urticaria pigmentosa (UP), or without cutaneous signs, making diagnosis challenging 2.
- Systemic mastocytosis (SM) can cause symptoms such as syncope, gastric distress, nausea and vomiting, diarrhea, bone pain, and neuropsychiatric symptoms 4.
- Mastocytosis can also lead to unexplained osteoporosis or haematological abnormalities, particularly when associated with elevated baseline serum tryptase levels 2.
- The clinical features of mastocytosis result from mast cell mediator release and infiltration into target organs, and can include flushing, pruritus, abdominal pain, diarrhea, hypotension, syncope, and musculoskeletal pain 3.
Diagnosis and Classification
- 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.
- A somatic KIT mutation, typically D816V, is usually detectable in mast cells and their progenitors 2, 4.
- Mastocytosis comprises seven different categories, ranging from indolent forms such as cutaneous and indolent SM, to progressive forms such as aggressive SM and MC leukemia 2.