Mast cell disease is very rare and therefore it can be difficult to find a physician who knows and understands the disease. However, this is slowly changing and an increasing number of physicians are becoming aware of mast cell disease, particularly Mastocytosis. 

Mastocytosis has a specific set of diagnostic criteria which helps physicians diagnose the disease with confidence. MCAS is diagnosed more by process of elimination and therefore many physicians are not comfortable with a confident diagnosis. 

Generally, most specialists require a referral from a family doctor to book an appointment. It is always a good start to speak with your family doctor first if you suspect some type of mast cell disease. Please remember that Mastocytosis, Mast Cell Activation Syndrome (MCAS), Hereditary Alpha Tryptasemia (HAT) and Idiopathic Anaphylaxis (IA) are quite rare so many family doctors may be unfamiliar with how to test, diagnose and treat these diseases. Our website offers some information on how to prepare for a visit with your doctor.  

Here is some help in determining what type of physician to see:

• Cutaneous Mastocytosis or skin involvement is best treated by a Dermatologist
• Allergic type reactions are best treated by an Allergist or Immunologist
• Systemic Mastocytosis or other system involvement is best treated by a Hematologist, Oncologist or Internist (Internal Medicine).

We are including two recent articles links, written from a large group of physicians stating all diagnostic criterias that you will wish to discuss with your doctor, since many other diseases may mimic mast cell diseases.

Article 1 - Selecting the Right Criteria and Proper Classification to Diagnose Mast Cell Activation Syndromes: A Critical Review

Article 2 - Updated Diagnostic Criteria and Classification of Mast Cell Disorders: A Consensus Proposal

Diagnosing these disorders is often a long, complicated process involving many areas of specialty medicine.  Many patients suffer declining health for up to 10 years or longer before finally being diagnosed.

Mastocytosis has a set of standard diagnostic testing.  Those with skin or hematological involvement seem to have the best chance of their physicians diagnosing their illness.  MCAS and Idiopathic Anaphylaxis involve many tests, most of which may be inconclusive.

None of the current diagnostic tests are reliable for every patient.  Some of these tests often return false-negatives.  Some tests return positive results outside the normal range, yet the patient experiences few symptoms and enjoys a normal unrestricted life.  Many patients have completely normal test results (eg. tryptase, urine, bone marrow) yet they are disabled by these disorders.  The largest discrepancy is reported by patients who test positive for a cutaneous form of Mastocytosis, yet negative test results proving systemic involvement, even though the patients exhibit all the classic symptoms of Systemic Mastocytosis.  Physicians and patients worldwide are aware of this.

Current diagnostic testing needs refinement and new tests need to be discovered that are more reliable and definitive for these disorders.  Researchers worldwide are constantly working to address these issues.

Listed below are the initial standard diagnostic tests. Some are less reliable than others and many are difficult to get access to in Canada.  These tests are used to determine the likelihood that a patient has Mastocytosis, MCAS or IA, or perhaps determine if it's something else entirely:

• Skin biopsy if spots, rash appearance or other skin involvement appears (*Wright Giemsa Staining of sample is required)
• Serum Tryptase blood test (baseline and then again within 2 hours of anaphylaxis where applicable)
• Bone Marrow aspiration and biopsy for presence of mast cells and to test tryptase.  Also identify CD25 expression, spindle shaped mast cells and abnormal morphology (*Wright Giemsa Staining of sample is required)
• Bone density test; Bone scintigraphy*(precautions needed for radiographic dyes with patients)
• Check for C-kit D816V mutation and/or JAK2 mutation V617F in bone marrow sample
• 24 Hour N-Methylhistamine Urine test (*specific sample preserve required) (**Not done in Canada, ship sample to Mayo Clinic or other in USA)
• Allergy tests (only if history directs it and there are foods where the timing of reactions is consistent with true allergic reaction)
• Prostaglandin D2 (PGD2) and 11 Beta-Prostaglandin F2 Alpha, Urine (BPG2) (*sample testing not done in Canada, ship samples to Mayo Clinic or other in USA)

Additional tests that may be considered include:

• Histamine and Heparin tests
Complete Blood Count & Chemistry Panel tests with specific attention on the following:
• Liver function
• Electrolytes
• Glucose
• Lipid panel
• Vitamin levels - Especially: Calcium, D, B12, Iron & Ferritin
• Red and White blood cell counts
• Immunoglobulins (IgE,IgA,etc.)
• ANA (Antinuclear antibodies)
• Erythrocyte Sedimentation Rate
• C-Reactive Protein
• Serotonin
• Chromogranin A
• Pulmonary function tests
• Ultrasound, X-ray, CT scan and/or MRI of abdomen, liver, spleen, brain
• Celiac test
• Adrenal function test
• Thyroid function tests (TSH, T3 and T4)
• 5-HIAA Urine test
• EKG
• Stress tests
• Upper GI Endoscopy
• Colonoscopy
• Vision/Eye exams - including imaging of eyes

Signs and symptoms of Mastocytosis and Mast Cell Activation Syndrome are many and varied per patient.  Idiopathic Anaphylaxis patients experience many of the same symptoms, have few if any signs or indicators to explain their illness, but their dominant symptom of anaphylaxis persists.

The signs are caused by an over-abundance of mast cells either limited to the skin, internally or both.  The symptoms occur when mast cells are triggered to degranulate.  

Mast cell degranulation is a normal response of the immune system trying to protect the body.  However, these disorders trigger mast cell degranulation with or without an apparent or valid trigger.  Things such as foods and drinks, extreme temperatures in water or air, emotional and physical stress (to name a few) can trigger mast cell degranulation for these patients. If the patient has both an over-abundance of mast cells and excessively active mast cells (i.e. degranulating when they should not), then the symptoms and illness become more severe, prolonged and life threatening.

Some patients experience only a few symptoms, some experience many, some have all of them at various times or persistently. There is no way to fully predict what each patient will experience.

Initially, only a few signs and symptoms may be present.  Often the signs and symptoms may escalate in type, severity, frequency and persistence.  Listed below are 58 signs and symptoms reported to us by patients consistently over the past 10 years.