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FAQS

Questions followed by * were translated from ASSOCIAZIONE ITALIANA MASTOCITOSI onlus (ASIMAS)
Questions followed by $ were gleaned from Mastocytosis Society Canada

Is it all in my head?

You may be told it is in your head. Usually, after you have exhausted the patience of numerous doctors. After all, the doctors have tried everything they can, and you still come back with the same symptoms. So, it must be in your head, right?

The doctors are not to blame, except if they treat you like a fraud. They have done everything they've learned.

And no, it's not in your head. It's for real. You will need to find a doctor who understands mast cells to be declared sane again.

Unfortunately, there aren't many doctors who are trained in that aspect of medicine.


Is a bone marrow biopsy painful

By all accounts, it is not a pleasant procedure. Depending on your pain threshold, it can be uncomfortable.

Having said that, many people are reporting that it is a totally tolerable intervention, pain-wise.

It helps if you have a friend or a relative with you (if the Drs. let you) to hold your hand and attempt to distract you.

But understand this is NOT a procedure you'd want to allow a person in training to perform on you. If you're advised that a trainee Dr. will deal with it, politely but strongly decline.


Is mastocytosis contagious?

No, mastocytosis is not contagious.


Is mastocytosys hereditary

In some cases, mastocytosis is inherited.

These cases result from a genetic mutation which causes the over-activation of the receptor (c-KIT) that controls mast cell growth and proliferation. This mutation is believed to cause the abnormal accumulation of mast cells in certain tissues.

These mutations in the c-kit proto-oncogene are passed down through families in an autosomal dominant fashion.


What causes mastocytosis?

Mastocytosis is caused by the presence of too many mast cells in the body.

Mast cells, which can be found in skin, lymph nodes, internal organs (such as the liver and spleen) and the linings of the lung, stomach, and intestine, play an important role in helping the immune system defend these tissues from disease.

Mast cells attract other key players of the immune defense system to areas of the body where they are needed by releasing chemical “alarms” such as histamine and cytokines.


What is the difference between anaphylaxis and an anaphylactoid reaction?

There is not much difference to you as the sufferer. There is not much difference to the doctor who is treating you when it happens. There is a tendency for anaphylactoid reaction to be less dangerous than anaphylaxis, but don't count on it.

There is a definite difference in the way it comes about. Anaphylaxis is caused by antibodies called ‘immunoglobulin E', abbreviated as ‘IgE'. But exactly the same end results can happen in various ways without IgE. That is called an ‘anaphylactoid' reaction.

Anaphylaxis and anaphylactoid reactions differ in the things which cause them. For example nuts, fish and latex cause anaphylaxis because of IgE. Injections given before some X-rays, morphine-like drugs and some intravenous liquids given to replace blood or fluid loss cause anaphylactoid reactions without IgE.


I am told that I have suspected mastocytosis, What does that mean?

An important aspect of mastocytosis is the diversity and the non-specificity of the clinical manifestations.

Unless you have clear symptoms, like skin lesions, unexplained bone fractures or unexplained anaphylaxis, which usually guide the physician to suspect mastocytosis, it may take several years before a physician would identify a case of mastocytosis.

Luckily, the WHO has set quite rigid criteria by which a Dr. is to diagnose mastocytosis. It usually takes a Bone Marrow Biopsy to be certain that you have developed mastocytosis. It may be that you are reluctant to go through a BMB and therefore the Dr. will diagnose a suspected mastocytosis.

Alternatively, it may be that you comply to some extent with the minor WHO criteria. This may lead the Dr. to the “suspected” diagnosis.

How rare is mastocytosis?

It depends how you count it. Here's the official number, is there is such a thing.

The true incidence of mastocytosis is unknown, but the available evidence suggests that it is a rare disease, with a prevalence of no more than 0.3 per 10,000, which qualifies it as an orphan disease.

Now, understand these are diagnosed cases.

My personal view is that this disease is woefully under-diagnosed. Think about it:

  • The medical profession are untrained to detect mastocytosis. So, many people spend a decade or more before they find a specialist who names their condition.
  • Some patients never find a specialist and are lead to believe the condition is ‘all in their head'. These people cease fight and will never be diagnosed.
  • 85-90% of the sufferers have a gene mutation which is the cause of mastocytosis. Unless you have inherited that genetic mutation, it will take a long time for that mutation to appear. So, many (but by no means all) sufferers are in their  50's before they have the onset of symptoms. Add the typical decade before they are diagnosed. Consider the psychological impact of these people being undiagnosed for that length of time. It is quite possible that many sufferers die (either as their disease goes unchecked or due to other causes) before they get to a diagnosis.

So, as the quote above says, the true incidence is unknown.


Is Mastocytosis a serious disease? *

The evolution of mastocytosis is variable and depends on the type of disease, the organs involved (whether only the skin is affected or other organs), other concomitant diseases (eg, other diseases of the blood) and response to therapy.

The majority of patients have a life expectancy not different  from the general population, albeit with a lesser quality of life.

Cutaneous mastocytosis usually has a benign clinical course and, in children, is often self-limiting and regresses spontaneously during puberty.

Systemic mastocytosis, however, has different possible courses depending on the type, ranging from indolent forms to forms with more severe engagement.


Is there a cure for mastocytosis? *

Mastocytosis is a disease that in some cases (cutaneous forms in childhood) heals spontaneously.

But other than in the case above, there is no cure for mastocytosis,

In the milder forms, it is sometimes sufficient to avoid triggering events so that symptoms are kept in check. When some of the symptoms (itching, hives, fatigue, headache or diarrhea) are more frequent, there are several medications that can control them, blocking the main mediators produced by mast cells (histamine, leukotrienes, etc..).

The drugs most commonly used are the H1-receptor antagonists (antihistamines) and histamine H2 antagonists, cortisone and so-called mast cell stabilizers (including sodium cromoglycate and ketotifen).

For the more severe forms of mastocytosis,  cytoreductive drugs are used, which to counteract the growth of mast cells. These are not usually used in cutaneous mastocytosis and indolent systemic mastocytosis.


What is cutaneous mastocytosis? *

In cutaneous mastocytosis, the accumulation of mast cells is limited to the skin. It is common in childhood, and the prognosis is usually benign.

Cutaneous mastocytosis may manifest itself in different forms:

  • urticaria pigmentosa (UP) or maculopapular cutaneous mastocytosis,
  • diffuse cutaneous mastocytosis (DCM), and
  • cutaneous mast cell.

What is systemic mastocytosis? *

In systemic mastocytosis, the accumulation of mast cells is not limited to the skin, but also involves other organs (bone marrow, liver, spleen, lymph nodes, intestines, etc.). There are different types of systemic mastocytosis with various levels of severity: the most frequent, and generally less severe, are indolent systemic mastocytosis and systemic mastocytosis intermediate, the rarest are the aggressive systemic mastocytosis (ASM), mastocytosis associated with other systemic disease of the blood, mast cell leukemia (MCL), the mast cell sarcoma and extracutaneous mast cell tumor.


Can cutaneous mastocytosis evolve to systemic mastocytosis? *

The evolution of cutaneous mastocytosis is different depending on whether this occurs in childhood or adulthood.

In children cutaneous mastocytosis is usually self-limiting and tends to disappear spontaneously within puberty; rarely, cutaneous mastocytosis manifested in childhood persists in the adult.

When cutaneous mastocytosis begins in adulthood, the possibility that it may become systemic, however, is higher.


How will I realize that my cutaneous mastocytosis is becoming systemic? *

In an adult patient with cutaneous mastocytosis, the emergence and persistence of unusual fatigue, back of leg pain, or burning pain in the stomach, digestive difficulties, should suggest an evolution in systemic mastocytosis.

Some laboratory tests (blood count, clotting times dose of transaminases) may be helpful to confirm systemic involvement. In any case, an increase in the levels of tryptase in the blood is strongly indicative of evolution from cutaneous to systemic form.


Once I have been diagnosed with mastocytosis, how often do I have to repeat the tryptase level test? *

The tryptase levels should be checked periodically according to clinical conditions and laboratory tests. In general, it is useful to check the tryptase levels about every 6 months.


When is it necessary to perform a bone marrow biopsy? *

In children with cutaneous mastocytosis, a bone marrow biopsy is not usually required.

In the adult cutaneous and systemic cases, a complete evaluation of the bone marrow is always recommended. This, however, becomes necessary in the presence of high levels of tryptase in the blood or when there are signs/symptoms of organ involvement.


Do family members of a patient with mastocytosis also undergo these tests? *

In general it is not necessary, given the rarity of the familial forms.

It is advisable, however, to test family members who present clinical symptoms, first of all by checking tryptase levels in blood.


It is often said that a patient with mastocytosis should always carry self-injectable epinephrine. Is that true? *

Some patients with systemic mastocytosis may have anaphylactic reactions (sudden lowering of pressure, breathing problems, abdominal pain, syncope).

Epinephrine is a life-saving drug in the event of an anaphylactic reaction. It is essential that all patients with mastocytosis always carry the self-injectable epinephrine to be used in emergency treatment before going, in every case, to the ER.

It is therefore important that patients and relatives of patients with mastocytosis are trained in the use of adrenaline auto-injectable pen and that it is always carried with you.


What can trigger the symptoms? *

The symptoms triggers may include certain foods, medications, insect bites, stress, friction and physical, thermal and emotional changes.

Once the patient has identified the specific triggering factors that can cause the activation of mast cells, the removal of such factors becomes an integral part of the therapy. There is considerable variability in response to different stimuli (what can cause a reaction in a person, can be harmless to another), it is very important that each individual patient identifies all potential triggers, in order to avoid them.

The factors most frequently involved are:

  • physical stimulation: compression and rubbing of the skin, exercise, emotional stress and excessive changes in temperature (hot-cold);
  • alcohol (wine, beer);
  • certain foods: chocolate, sauerkraut, shellfish , pork liver, fermented cheese, pepper, red pepper, dried sausages, preserved fish (anchovies, mackerel, tuna, smoked fish eggs), some species of fresh fish (anchovies, salmon, sardines, tuna), some fruits ( peanuts, oranges, bananas, strawberries, hazelnuts, walnuts, peaches), spicy foods and certain food additives and preservatives;
  • certain types of drugs:
    • non-steroidal anti-inflammatory drugs, in particular acetylsalicylic acid (in case of need it is preferable to take nimesulide)
    • certain anesthetics, narcotics and muscle relaxants (eg, codeine, etomidate, lidocaine, the preservative methylparaben, metocurarina, morphine, pancuronium, procaine, succinylcholine, tetracaine, thiopental, d-tubocurarine), other medications, such as ACTH, amphotericin B , derivatives of quinine, pilocarpine and reserpine.

Can patients with mastocytosis may take oral contraceptives ?

Yes.

There are no contraindications to the use of oral contraceptives in patients with mastocytosis.


Are there any risks associated with pregnancy for a patient with mastocytosis? *

No.

Pregnancy is not a risk for either the mother or child. In case of caesarean section it is appropriate to follow the pre-operative precautions for mastocytosis sufferers


Are insect bites dangerous for patients with mastocytosis? *

Some patients with cutaneous or systemic mastocytosis may have local or systemic reactions more severe than other individuals after bee stings, hornets or wasps (Hymenoptera). This problem does not exist, however, for mosquito bites.To avoid the stings of bees, hornets or wasps, you can take some precautions:

  • if a wasp buzzing around, do not try to drive it out, but remain firm and calm, avoiding sudden movements;
  • when you are outdoors, make sure the factors that attract Hymenoptera: do not wear clothes with bright colors, do not leave food uncovered, stand away from orchards, vineyards and fruit stalls, do not use perfume, hairspray or fragrant essences;
  • when you're outdoors in places and at times of risk,  wear long sleeves and long pants, gloves and helmet in motion, do not walk barefoot;
  • avoid working in the garden or countryside. If necessary, always wear work gloves;
  • store household waste carefully and tightly closed pay attention to their disposal, do not stand near areas used to collect the waste;
  • apply window  screens on the windows ;
  • have qualified personnel eliminate any nests of wasps near your home;
  • do not move fallen logs and stumps, on which the wasps may have nested;
  • be sure to always carry emergency medications (self-injectable epinephrine ), checking the expiration date.

Can a patient with mastocytosis undergo surgery and / or anesthesia?

Yes.

You must, however, follow certain guidelines before surgery. In particular, you should inform the anesthetist of your mastocytosis and implement a protocol for prevention of adverse reactions to anesthetics and muscle relaxants.


Can a patient with mastocytosis practice sports? And if yes, are there special precautions to follow?

Yes.

In general, there are no contraindications to sports activities for patients with mastocytosis. It should be remembered, however, that in some patients intense physical stress can intensify the symptoms of mastocytosis. In this case, it is appropriate for the patient to identify and avoid any triggers.

You can, in special cases, take prophylactic antihistamines.

Finally, when you play outdoor sports activities, it is essential to take precautions against wasp stings.


Can a patient with mastocytosis sunbathe? *

Yes.

In some cases, exposure to sunlight may also have a beneficial effect on skin lesions. In fact, the P-UVA therapy (which is based on the combined use of psoralens and ultraviolet A) is often used for therapeutic purposes, as it is able to determine an improvement, even if temporary, of pigmented skin lesions.


If I am abroad, who should I contact in case of need? *

In addition to the centers in your home country, there are many centers of reference in Europe and the United States. You can get more information about these centers on the site of the European Competence Network on Mastocytosis

Is mastocytosis contagious? $

No.

However, patients should not donate blood or any organs.

Why are patients advised against donating blood or organs? $

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.


Are these inherited disorders? $

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.


Does a mastocytosis or mast cell disorder diagnosis mean I will suffer all the known symptoms? $

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


If diagnosed with a cutaneous form of mastocytosis, does that mean it will not progress to systemic mastocytosis? $

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


Do pediatric forms of mastocytosis resolve during puberty? $

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.


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

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.


Does systemic involvement mean death is imminent? $

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.


Is there a chance that my mastocytosis/mast cell disorder will go into remission? $

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


Is it necessary for me to carry an epipen? $

If the patient is prone to anaphylaxis and/or preliminary signs of anaphylaxis such as sudden breathing difficulties, lip/throat swelling, hives, wheezing/heaviness in chest, and or sudden drops in blood pressure, it is suggested that they are prepared at all times just in case a severe reaction were to occur. Always telephone 911 Emergency to be safe.


Should I wear a MedicAlert bracelet/pendants? $

Yes.

We suggest all patients register with MedicAlert and keep their medical data updated regularly with MedicAlert. It will speak for you when you are unable to do so yourself.

It also ensures physicians and paramedics know your medication and health history, as well as any sensitivities you have. MedicAlert Canada has a subsidized Membership Assistance Program for patients with limited financial means.