Nature of Disease: A rare disorder affecting myeloid cells in the bone marrow.
Primary Organ Affected: Skin is most commonly involved, with over 90% of patients experiencing skin symptoms.
Prevalence of Mutation: Approximately 95% of patients show a specific mutation in their mast cells.
Diagnosis of Systemic Mastocytosis
Bone Marrow Biopsy: Identification of a mutation in mast cells; over 95% of patients have this mutation.
Mast Cell Evaluation: Counting the number of mast cells and their aggregates in the bone marrow; over 15 mast cells in an aggregate is significant.
Blood Test for Tryptase: Measuring tryptase levels to assess the total mast cell burden.
Symptoms and Organ Involvement
Mast Cell Morphology: Often, mast cells have an unusual, spindle shape.
Affected Organs: Can include the gastrointestinal tract, spleen, liver, and lymph nodes.
Symptoms: Range from anaphylaxis (severe allergic reactions) to bone fractures, spleen enlargement, increased liver pressure, and gastrointestinal issues.
Treatment and Medication
For Indolent Systemic Mastocytosis:
Antihistamines: To manage symptoms by blocking histamine release.
Epinephrine (EpiPens): For emergency treatment of anaphylactic reactions.
Osteoporosis Evaluation: Due to its association with systemic mastocytosis.
For Aggressive Forms (Aggressive Mastocytosis, Mast Cell Leukemia):
Alpha Interferon: Standard care for more severe forms.
Chemotherapeutic Drugs: Used for more aggressive treatment.
Special Cases:
Imatinib: Effective in a small subset of patients without the common mutation.
Additional Considerations:
Investigational Trials: Mayo Clinic offers trials for new treatments.
Comprehensive Patient Evaluation: Including eligibility for investigational treatments.
Mayo Clinic's Role
Research and Development: Conducting trials for new treatments, especially for aggressive systemic mastocytosis.
Patient Management: Providing both standard care and access to investigational treatments for patients who don't respond to conventional therapies.