Mast Cell Disease

Mast cell diseases are a group of rare diseases, affecting less than 200,000 people in the U.S. They are characterized by the body making too many mast cells or the mast cells not functioning correctly.

Mast cells are a type of white blood cell. These cells play a key role in the immune system by responding directly to pathogens and sending signals to initiate an immune response.

Types of Mast Cell Disease

• Cutaneous mastocytosis (CM) – too many cells in the skin
• Systemic mastocytosis – too many mast cells in an organ that is not the skin
• Mast cell activation syndrome (MCAS) – normal amount of mast cells behave badly
  • Stable with no organ damage – life span is normal
• Monoclonal mast cell activation syndrome (MMAS) – person meets some criteria for systemic mastocytosis, but not all, indicates the mast cells are starting to think about abnormal proliferation

Symptoms

• Anaphylaxis
  • Severe, rapid in onset, allergic reaction – may cause death
• Skin
  • Flushing, rashes, hives, itching, angioedema, dermatographism
    • Angioedema – swelling of the skin and tissue just under the skin
    • Dermatographism – seemingly minor scratches turn into temporary but significant reactions
• Gastrointestinal
  • Abdominal pain, diarrhea, constipation, swelling of GI tract, difficulty swallowing
• Neurological
  • Numbness, headache, migraine, feeling faint, pins and needles, tremors, tics
• Cardiovascular
  • Weakness, dizziness, high or low blood pressure, slow or rapid heartbeat, abnormal heart rhythm, chest pain, palpitations

Triggers

May include but are not limited to:

• Heat, cold, or rapid change in temperature
• Friction, especially on the skin
• Sunlight
• Scents and fragrances
• Illness, such as viral or bacterial infection
• Exercise
• Many foods, especially high histamine foods
• Many preservatives and dyes
• Many medications
• Emotional or psychological stress
• Physical stress, such as surgery