Peter Vadas MD, PhD Consultant in Allergy and Clinical Immunology

Mastocytosis and Mast Cell Activation Syndrome

Mast cell disorders are uncommon causes of allergic reactions and anaphylaxis. When mast cells accumulate in the skin, they can cause characteristic skin lesions, such as urticaria pigmentosa or telangiectasia macularis eruptiva perstans (TMEP).  This type of mast cell disorder can be confirmed by skin biopsy.
Sometimes, mast cells accumulate in other areas, such as bone marrow. Diagnosis requires a bone marrow biopsy and specialized molecular studies to test for a mutation in a cell surface regulatory protein.  Treatment includes use of medications that block the actions of mediators released from mast cells (receptor blockers) or drugs that stabilize mast cells to prevent their activation.
Mast cell activation syndrome (MCAS) may be either monoclonal (arising from a single clone of cells) or non-monoclonal.  Diagnosis is often difficult and the testing is expensive.  Diagnosis requires typical symptoms of mast cell activation, the presence of elevated levels of mast cell products in blood and urine and a good therapeutic response to medications that modulate the activity of mast cells.

With respect to testing for mast cell activation syndrome (MCAS), the tests require a blood sample and a 24 hour urine collection.  Currently, the samples are collected at St. Michael's Hospital at the Outpatient Laboratory on the 2nd floor of the Carter Wing.  The samples are sent to the United States to a reference laboratory.  Testing is expensive and the cost is not covered by OHIP.  The out-of-pocket cost is approximately $1000.00.  Personnel in the out-patient laboratory will provide precise information.