Q. Is Mastocytosis contagious?

A. No. However, patients should not donate blood or any organs.

Q. Why are patients advised against donating blood or organs?

A. Medical research has not determined conclusively that is safe to do so. Until they know for sure, some physicians have advised patients against donating blood or organs.

Q. Are these inherited disorders?

A. There are some familial cases of Mastocytosis and related mast cell disorders. More commonly, within a family, members may have different disorders which are all impacted or worsened by irregular mast cell activity. Research has found a genetic component to Mastocytosis in some patients (not all) but has not determined definitively how these disorders are initiated. It is expected that with genetic research, more genetic markers may be identified.

Q. Does a Mastocytosis or mast cell disorder diagnosis mean I will suffer all the known symptoms?

A. Not necessarily. These disorders are so variable in presentation and activity per patient, it is difficult to predict what an individual patient will experience.

Q. If diagnosed with a cutaneous form of Mastocytosis, does that mean it will not progress to Systemic Mastocytosis?

A. Hopefully. However, there are many patients who have both cutaneous and systemic forms of Mastocytosis.

Q. Do pediatric forms of Mastocytosis resolve during puberty?

A. To date, medical research indicates yes for an estimated 50% of pediatric cases. However, there are some adults with Mastocytosis who also had the disorder in their childhood.

Q. Is Mastocytosis considered to be a form of cancer? Or is the risk of developing cancer greater with
Mastocytosis and other mast cell disorders?

A. Cutaneous and Indolent forms of Mastocytosis, and mast cell activation disorders, are not cancer. Some aggressive forms of Mastocytosis and mast cell leukemia do involve types of cancer. In most cases, Mastocytosis does not equal cancer.

However, this is a neoplastic disorder which refers to the abnormal proliferation of cells. Cancer is also classified as neoplastic. The difference is that cancer cells are malignant. Mast cells are actually good immune system cells but in the case of Mastocytosis and other mast cell disorders, the mast cells may be elevated in numbers and/or behaving abnormally.

Q. Does systemic involvement mean death is imminent?

A. Mostly, no. For cutaneous and indolent forms of Mastocytosis, patients should have a normal life expectancy. However, those who experience anaphylaxis and other life threatening symptoms or complications, and those who have tested positively for bone marrow involvement, are at greatest risk.

Q. Is there a chance that my Mastocytosis/mast cell disorder will go into remission?

A. Childhood forms of Mastocytosis often will go into remission as the child ages but in most cases the adult form does not.



questions

People often feel very overwhelmed when they first receive a diagnosis.  Here are a few guidelines which may help put things into perspective and allow you to actively take control of your health. 

Education is Key:  Read and learn as much as you can about your diagnosis.  Knowledge is power, but be careful not to dwell on the worst case scenario.  Most people with mast cell disease lead very fulfilling lives once they learn to control their illness.  

Diagnosis is Just the Beginning:  After diagnosis, it will take time for your treatment protocol to take effect.  This treatment protocol may have to be changed and tweaked a number of times before you see improvements to your health.

You may need to see other specialists before you understand the full extent of your diagnosis.  Many physicians have never heard of mast cell disease or have very little experience with it.  You will need to learn to be patient as it will take time for all aspects of your diagnosis and treatment to come together.

It Starts With You:  You have a very large role to play in the management of your health.  You will need to learn your triggers and symptoms and manage them accordingly.  Your diet and exercise may change.  There will be many changes, but most can be managed quite easily.  Your symptoms may change frequently, sometimes even daily.  Food, exercise and enviornmental factors you've tolerated in the past may cause symptoms today.  You will need to become very in tune with your body and carefully manage your environment.  This is a life long commitment - you will have to actively manage your disease throughout your life.  

Find Support:  Seek the support of others and lean on others for support.

Seek a physician in your region who has experience with mast cell disease.  MSC keeps a list of physicians whom other patients have reported were helpful in their care.  


Preparing for your doctor’s appointment can be as important as getting the appointment itself.  Here are a few tips to prepare yourself for that visit:

  • Advocate:  Become your own advocate for your health and well-being.
  • Write it Down:  Monitor your health and record your symptoms (every day if necessary).  You may forget certain things when you present at your Doctor's office or the Emergency Room. Having a record of your symptoms may help outline what you have been dealing with. 
  • Triggers:  Try to establish what your triggers are.  When your health changes, no matter what degree, record:
    • where you were
    • what you were doing at the time
    • what did you eat/drink
    • what were you exposed to (i.e. fragrances, chemicals)
    • were you under any stress
    • was it too hot or cold
  • Symptoms:  Monitor your symptoms including type and duraction.
    • were you short of breath
    • did your GI tract react
    • were you itchy  
    • did your skin react
    • did you feel depressed
    • did your heart rate increase or decrease
  • Prepare Questions in Advance:  Be prepared with a list of questions in advance of your doctor's visit.
  • Have Patience:  Remember that any illness takes time to diagnosis. This  is a rare disease and caregivers may not be familiar with this disease.
    • If you feel ill and your body is telling to seek care, listen and get care.
    • If you need to rest, REST.
    • If you need to talk, talk to a family member or friend.
    • If you think you are not being heard, advocate to be heard.

If your physician agrees that Mast Cell disease may be a possibility, feel free to reach out to MSC to find a specialist in your area that is knowledgeable about diagnosis and treatment.  


findingadoctor

 

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.

MSC compiles and manages a list of physicians across Canada who have knowledge and experience with mast cell disease.  If you would like assistance finding a physician, please send an email to info@mastocytosis.ca indicating your city of residence and we will respond with suggestions on physicians in your area.  At this time, MSC keeps only a list of Canadian physicians.  If you are from the United States and looking for a physician, please see The Mastocytosis Society website.  

Please note that MSC cannot yet identify many physicians who are comfortable diagnosing MCAS.  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. 

If you are an existing mast cell patient and have received excellent care from your physician, please share that information with us so we can continue to build up our list of physicians.  Particularly if you are familiar with a physician who is comfortable diagnosing and treating MCAS.  


diagnosis

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.

  • skin lesions or sores
  • skin rash, spots, redness
  • hives
  • persistent fatigue
  • itching
  • flushing & severe sweating
  • joint, bone pain
  • headaches
  • tachycardia (racing heartrate)
  • eyes tearing/dry, eye pain
  • persistent body/tissue pain
  • difficulty exercising
  • vertigo
  • episodes of low body temperature
  • unexplained Vitamin B12 deficiency
  • scents/odors/chemical reactions
  • difficult menses (females)
  • numbness & tingling
  • in face and extremities
  • skin feels on fire
  • unexplained anxiety
  • sudden drops in blood pressure
  • fainting
  • persistent diarrhea
  • vomiting
  • unexplained weight loss
  • cognitive impairment
  • sinus problems
  • chest pain
  • vision problems
  • hair loss
  • mouth sores
  • nausea
  • swelling & inflammation
  • odd reactions to insect stings
  • anesthesia difficulties
  • anemia
  • thyroid problems
  • decreased bone density
  • unexplained weakness
  • shortness of breath
  • sunlight sensitivity
  • temperature (hot/cold) sensitivity
  • difficulty with foods, drinks
  • anaphylactoid reactions
  • anaphylaxis
  • gastrointestinal pain, bloating
  • unexplained medication reactions
  • enlarged liver/spleen
  • liver/spleen/bladder/kidney pain
  • enlarged lymph nodes
  • frequent urination
  • recurring infections
  • neuropathic pain
  • constipation (MCAS)
  • iron deficiency
  • unexplained bruising, bleeding
  • malabsorption
  • intermittent tinnitus or hearing problems
  •