Anaphylaxis in Mastocytosis
Mastocytosis is a rare immune disease where mast cells (a type of immune cell) gather in body tissues, such as the skin, internal organs, and bones. In response to an allergic reaction, these cells may release an excess of chemicals in the bloodstream, leading to a high risk of anaphylaxis.
What is anaphylaxis in mastocytosis?
Mastocytosis is a rare immune disease where mast cells (a type of immune cell) gather in body tissues, such as the skin, internal organs, and bones. When mast cells detect a substance that triggers an allergic reaction (an allergen), they release histamine and other chemicals into the bloodstream. The large number of mast cells in patients with mastocytosis means that a very high level of these chemicals is released into the blood, which can cause mild to life-threatening reactions such as anaphylaxis.
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Symptoms of mastocytosis can be varied and wide-ranging, such as:
skin blisters
nausea
stomach pain
diarrhea
vomiting
brown or red blotches on the skin
bumps or spots that itch
flushing
fainting
Patients with mastocytosis are at an increased risk of anaphylaxis, which may occur with no obvious trigger. Anaphylaxis should always be treated as a medical emergency.
Symptoms of anaphylaxis include:
a rapid, weak pulse
sudden difficulty breathing
swelling of the face, lips, tongue and throat
difficulty swallowing or speaking
large hives or a rash on the body
flushed, red skin
abdominal cramps, nausea and vomiting
dizziness and fainting
collapse and unconsciousness
In severe cases, there’s a risk of a dramatic fall in blood pressure and the narrowing of airways (anaphylactic shock). Someone suffering from anaphylactic shock may become weak and floppy, have trouble breathing, and lose consciousness.
The causes of mastocytosis aren’t fully known, but there may be a link with a change in genes known as the KIT mutation. This change makes mast cells more sensitive to the effects of a protein called stem cell factor, which leads to the overproduction of mast cells.
Abnormally high numbers of mast cells in an individual with mastocytosis create the potential to release large amounts of histamine into the blood, increasing the risk of anaphylaxis in response to an allergen.
Anaphylaxis is a medical emergency and is diagnosed by observing the symptoms present.
Following an acute episode, we recommend making an appointment with one of our expert allergists in our Allegy centre.
Our allergists will diagnose anaphylaxis by talking to you at your initial consultation about your recent reaction, medical history, and any potential triggers. If mastocytosis is suspected as the cause of anaphylaxis, your allergist will recommend some further tests.
The following tests are commonly used to look for signs of mastocytosis:
skin tests – your dermatologist may rub the affected areas of skin to see if it becomes red, inflamed and itchy. This is known as Darier’s sign
blood tests – including a full blood count (FBC) and measuring blood tryptase levels
ultrasound scan – to look for enlargement of the liver and spleen,
a DEXA scan – to measure bone density
a bone marrow biopsy test – where a local anaesthetic is used and a long needle is inserted through the skin into the bone underneath, usually in the pelvis
Mastocytosis cannot be prevented. The best way to prevent anaphylaxis is to identify triggers, stay away from known allergens, and be prepared for anaphylactic reactions.
If you have mastocytosis, you should:
carry any prescribed medication, such as autoinjectors, with you and teach friends and family how to use them
regularly check the expiry date on any autoinjectors
consider wearing a medical alert bracelet or necklace to tell other people about your mastocytosis in case of an emergency
seek medical help as soon as you notice symptoms of anaphylaxis, even if they are mild
The complications of anaphylaxis are severe and potentially life-threatening. Untreated, anaphylaxis and lead to respiratory failure, cardiac arrest, and organ failure. Anaphylaxis should always be treated as an emergency.
Anaphylaxis is a medical emergency and may need rapid treatment with epinephrine (also known as adrenaline), which can be given by injection.
Following an acute episode of anaphylaxis, our allergists will be able to help identify if your anaphylaxis was caused by mastocytosis and manage and reduce the risk of future reactions.
Treatment and management of anaphylaxis in mastocytosis may include:
carrying an epinephrine auto injector (often referred to as an EpiPen)
oral steroids or oral antihistamine
steroid cream to treat mild to moderate cases of cutaneous mastocytosis
skin prick tests or blood tests to help identify unknown triggers
There’s no proven cure for mastocytosis, so it’s advised to stay away from the things that trigger your symptoms.
At Welbeck, our dermatologists are experts in their field and are dedicated to providing world-class care to every patient.
With access to colleagues across other specialties, our consultants are also able to refer within the Welbeck ecosystem if required to ensure you receive the treatment you need as quickly as possible, all under one roof.
All appointments, testing, treatment, and follow-up appointments take place within our state-of-the-art facilities, enabling us to deliver accurate diagnostics and advanced treatments.
Your health is important to us, so we strive to offer same-day appointments whenever possible.
Our consultants are recognised by the major health insurance companies. If you have private health insurance, your treatment at Welbeck can begin once you have obtained authorisation. We also provide care to self-paying patients. Learn more about the different payment options at Welbeck.
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Frequently asked questions
The symptoms of anaphylaxis itself are the same, regardless of its underlying cause. Patients who suffer from anaphylaxis caused by mastocytosis may have more frequent episodes of anaphylaxis, sometimes without an obvious trigger.
You might not know that you have mastocytosis before an anaphylactic episode. Symptoms of mastocytosis can be varied and non-specific, such as skin rashes, flushing, or abdominal pain. Following an acute anaphylactic episode, we recommend making an appointment with one of our allergists to help with a diagnosis and to determine any underlying cause, such as mastocytosis.
Desensitisation therapy, or immunotherapy – a treatment in which a patient is gradually exposed to an allergen to reduce the severity of their immune response – may be used in patients with mastocytosis who have a history of anaphylaxis to insect venom (such as bee or wasp stings). However, it’s generally not recommended for food or drug allergies in patients with mastocytosis due to the risk of unpredictable and potentially severe reactions.
Mastocytosis is a rare disorder, affecting around 1 in 10,000 people.