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Non malignant mast cell disease — Clinical Guidelines

Overview

Non-malignant mast cell disease encompasses a spectrum of disorders characterized by abnormal proliferation and infiltration of mast cells into tissues, primarily affecting the skin but potentially involving multiple organs including bone marrow, spleen, and liver. 3 5

Diagnosis

Clinical Presentation: Often manifests with skin lesions such as urticaria pigmentosa and systemic symptoms like bone pain, fatigue, and weakness. 3 5

Histopathology: Identification of mast cells with characteristic granules and tryptase positivity in biopsy samples. 5

Serum Markers: Elevated levels of tryptase may be indicative but are not specific. 5

Imaging: Bone marrow involvement can be assessed via imaging techniques like MRI or bone scans. 3

Management

First-Line Treatments:

- Antihistamines: For managing pruritus and urticarial symptoms. 5 - Cromolyn Sodium: Used to stabilize mast cells and prevent degranulation. 5

Adjunctive Treatments:

- Corticosteroids: For systemic symptoms and organ involvement. 5 - Mast Cell Stabilizers: Such as ketotifen, to prevent mast cell activation. 5 - Radiotherapy: Considered for refractory bone pain due to mast cell infiltration. 3

Special Populations

Elderly: May present with more systemic involvement and require careful management of comorbidities. 2

Comorbidities: Patients with additional chronic conditions may experience exacerbated symptoms and require tailored treatment approaches. 2

Key Recommendations

Biopsy for Histopathological Confirmation: Essential for diagnosing mast cell disease due to characteristic mast cell infiltration. (Evidence: Moderate 5)

Multidisciplinary Approach: Recommended for comprehensive management, especially in patients with systemic involvement and comorbidities. (Evidence: Expert opinion 2)

Radiotherapy for Refractory Bone Pain: Can be considered as a palliative measure in cases where medical therapy fails. (Evidence: Weak 3)

References

1 Crivellato E, Nico B, Ribatti D. The history of the controversial relationship between mast cells and basophils. Immunology letters 2011. link 2 Ostgathe C, Alt-Epping B, Golla H, Gaertner J, Lindena G, Radbruch L et al.. Non-cancer patients in specialized palliative care in Germany: what are the problems?. Palliative medicine 2011. link 3 Hesselmann S, Micke O, Schaefer U, Willich N. Systemic mast cell disease (SMCD) and bone pain. A case treated with radiotherapy. Strahlentherapie und Onkologie : Organ der Deutschen Rontgengesellschaft ... [et al] 2002. link 4 Carroll K, Ray K, Helm B, Carey E. Two-dimensional electrophoresis reveals differential protein expression in high- and low-secreting variants of the rat basophilic leukaemia cell line. Electrophoresis 2000. link21:12<2476::AID-ELPS2476>3.0.CO;2-J) 5 Longley BJ. What dermatologists need to know about mast cell disease: a dermatopathologist's view. Cutis 1999. link 6 Schechter NM, Irani AM, Sprows JL, Abernethy J, Wintroub B, Schwartz LB. Identification of a cathepsin G-like proteinase in the MCTC type of human mast cell. Journal of immunology (Baltimore, Md. : 1950) 1990. link 7 Hammar L, Hjertén S. Purification and immunochemical analysis of histidine decarboxylase from murine mastocytoma. Agents and actions 1980. link

Non malignant mast cell disease