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Mastocytosis is a rare condition caused by an excess number of mast cells gathering in the body's tissues.
There are two main types of mastocytosis:
There are also several subtypes of systemic mastocytosis, depending on the symptoms.
This topic covers:
Mast cells are produced in the bone marrow, the spongy tissue found in the hollow centres of some bones, and live longer than normal cells. They're an important part of the immune system and help fight infection.
When mast cells detect a substance that triggers an allergic reaction (an allergen), they release histamine and other chemicals into the bloodstream.
Histamine makes the blood vessels expand and the surrounding skin itchy and swollen. It can also create a build-up of mucus in the airways, which become narrower.
The symptoms of mastocytosis can vary depending on the type.
The most common symptom of cutaneous mastocytosis is abnormal growths (lesions) on the skin, such as bumps and spots, which can form on the body and sometimes blister.
Some people with systemic mastocytosis may experience episodes of severe symptoms that last 15-30 minutes, often with specific triggers such as physical exertion or stress. Many people don't have any problems.
During an episode you may have:
There are three subtypes of systemic mastocytosis. They are:
People with mastocytosis have an increased risk of developing a severe and life-threatening allergic reaction. This is known as anaphylaxis.
The increased risk of anaphylaxis is caused by the abnormally high number of mast cells and their potential to release large amounts of histamine into the blood.
If you or your child has mastocytosis, you may need to carry an adrenaline auto-injector, which can be used to treat the symptoms of anaphylaxis.
Read more about the symptoms of mastocytosis.
The cause or causes of mastocytosis aren't fully known, but there's thought to be an association with a change in genes (genetic mutation) known as the KIT mutation.
The KIT mutation makes the mast cells more sensitive to the effects of a signalling protein called stem cell factor (SCF).
SCF plays an important role in stimulating the production and survival of certain cells, such as blood cells and mast cells, inside the bone marrow.
In a very few cases of mastocytosis it appears the KIT mutation is passed down through families (inherited). However, in most cases the mutation happens for no apparent reason (spontaneous).
A physical examination of the skin is the first stage in diagnosing cutaneous mastocytosis.
Your child's GP or skin specialist (dermatologist) may rub the affected areas of skin to see if they become red, inflamed and itchy. This is known as Darier's sign.
It's usually possible to confirm a diagnosis by carrying out a biopsy, where a small skin sample is taken and checked for mast cells.
Five tests are commonly used to look for systemic mastocytosis. They are:
A diagnosis of systemic mastocytosis is usually made by finding typical changes on a bone marrow biopsy.
There's no cure for mastocytosis, so the aim of treatment is to try to relieve the symptoms.
Treatment options will depend on the type of mastocytosis and the severity of the symptoms.
Mild to moderate cases of cutaneous mastocytosis can be treated with steroid cream (topical corticosteroids) for a short time.
Steroid cream reduces the number of mast cells that can release histamine and trigger swelling (inflammation) in the skin.
Antihistamines can also be used to treat the symptoms of cutaneous or indolent mastocytosis, such as red skin and itchiness.
Antihistamines are a type of medication that block the effects of histamine, and are often used to treat allergic conditions.
Read more about treating mastocytosis.
In children the symptoms of cutaneous mastocytosis usually improve over time, but remain stable in adults.
In many cases the condition gets better on its own by the time a child has reached puberty.
The outlook for systemic mastocytosis can vary, depending on the type you have.
Indolent systemic mastocytosis shouldn't affect life expectancy, but other types can.
A few people develop a serious blood condition, such as chronic leukaemia, over their lifetime.
Mastocytosis causes a wide range of symptoms, which can vary depending on the type of mastocytosis you have.
Skin lesions are a characteristic of cutaneous mastocytosis. Types of lesions known to occur in cutaneous mastocytosis include:
Lesions usually develop on the trunk rather than the head, neck and limbs.
The lesions, known as urticaria pigmentosa, are usually yellow-tan to reddish-brown in colour, and can range from 1mm to several centimetres in size.
The number of lesions that develop on the skin can vary widely. For example, it's possible for only one lesion to develop, or more than 1,000.
Stroking the affected areas of skin can make it swollen, itchy and red over the lesion.
If you have systemic mastocytosis, you may develop sudden episodes of symptoms that last for around 15-30 minutes. However, many people don't have any problems.
The most common symptoms experienced during an episode are:
Less common symptoms during an episode include:
Once the episode has passed you'll probably feel sluggish (lethargic) for several hours.
The episodes are caused by the mast cells suddenly releasing excessive amounts of histamine, usually after you're exposed to certain triggers.
Triggers known to cause episodes include:
Abnormal mast cells in your bone marrow and organs can also cause related symptoms, including:
In more severe cases of mastocytosis, the following symptoms may occur:
Some people with severe symptoms experience a sudden fall in blood pressure during an attack.
Low blood pressure (hypotension) can trigger a number of associated symptoms, such as:
If you have systemic mastocytosis or extensive cutaneous mastocytosis, your risk of a severe allergic reaction (anaphylaxis) is increased.
It's important to look out for the initial symptoms of anaphylaxis, which include:
Dial 999 immediately and ask for an ambulance if you think you or someone else is experiencing symptoms of anaphylaxis.
The treatment options for mastocytosis depend on which type you have and how severe your symptoms are.
Nearly all medications used to treat mastocytosis are unlicensed. This means the manufacturers haven't applied for a licence for their medication to be used to treat mastocytosis.
In other words, the medication hasn't undergone clinical trials to see if it can treat mastocytosis effectively and safely.
Many experts will use an unlicensed medication if they think it will be effective and the benefits of treatment outweigh any associated risk.
Mild to moderate cases of cutaneous mastocytosis can be treated with a very strong steroid cream (topical corticosteroids) for a limited length of time, usually up to six weeks.
Steroid cream reduces the number of mast cells that can release histamine and trigger inflammation inside the skin.
Side effects of steroid cream when used too much include:
You should only apply the cream to areas of skin affected by lesions to reduce the risk of side effects.
Antihistamines can also be used to treat symptoms of cutaneous or indolent mastocytosis, such as itchiness and skin redness.
Antihistamines are a type of medication that block the effects of histamine. They're widely used to treat allergic conditions.
Side effects of some "classical" antihistamines include:
However, these side effects should pass quickly once you're used to the medication. Modern second generation antihistamines don't usually cause these side effects.
Sodium cromoglicate is a mast cell stabiliser, which means it reduces the amount of chemicals released by the mast cells. This helps relieve symptoms such as diarrhoea.
A case report published in 2010 describes a patient with mastocytosis whose symptoms improved after taking antihistamines and sodium cromoglicate capsules.
Their bone pain, fatigue and headache improved further after also taking inhaled sodium cromoglicate.
Nausea and joint pain have been reported in some people taking sodium cromoglicate.
A form of sodium cromoglicate applied to the skin (topical) is available that may help with itching. However, it's not routinely available on prescription.
More severe symptoms of cutaneous mastocytosis, such as severe itchy skin, may require a type of treatment called psoralen plus ultraviolet A (PUVA).
PUVA involves taking a medication called psoralen, which makes the skin more sensitive to the effects of ultraviolet light.
The skin is then exposed to a wavelength of light called ultraviolet A (UVA), which helps reduce lesions in the skin.
You can only have a limited number of PUVA sessions as using the treatment too many times – around 150 sessions – may increase your risk of developing skin cancer over your lifetime.
If symptoms such as itchiness are particularly severe, corticosteroid tablets (oral corticosteroids) may be prescribed on a short-term basis. However, this is rare.
A short course of corticosteroid tablets may be recommended if you have bone pain caused by mastocytosis, or a severe allergic reaction (anaphylaxis).
Side effects of oral corticosteroids used on a short-term basis include:
If you have weakened bones (osteoporosis) resulting from abnormal mast cell activity in your bones, you'll be given a type of medication called bisphosphonates.
Bisphosphonates slow the process of bone breakdown while allowing production of new bone to continue as normal, which improves your bone density.
You may also be given calcium supplements, as calcium helps strengthen bones.
Read more about treating osteoporosis.
If you have stomach pain caused by a stomach ulcer (peptic ulcer), you'll be given a medication called an H2-receptor antagonist.
This blocks the effects of histamine in the stomach – histamine stimulates the production of stomach acid, which damages the stomach lining.
Read more about treating a peptic ulcer.
Originally designed to treat cancer, interferon alpha has proved effective in treating some cases of aggressive mastocytosis.
It's not known exactly why this is, but it appears the medication reduces the production of mast cells inside the bone marrow.
Interferon alpha is given by injection. You may have flu-like symptoms, such as chills, a high temperature and joint pain, when you start taking interferon alpha.
However, your symptoms should improve over time as your body gets used to the medicine.
Imatinib is an alternative medication to interferon alpha. It's taken as a tablet and blocks the effects of an enzyme called tyrosine kinase, which helps stimulate production of mast cells.
However, imatinib should only be used for people who don't have the KIT mutation, and it doesn't work for most cases of mastocytosis.
Imatinib can also make you more vulnerable to infection. Contact your GP immediately if you develop possible signs of an infection, such as:
Nilotinib or dasatinib may be recommended if you don't respond to treatment with imatinib. They work in much the same way, blocking the effects of tyrosine kinase.
The medication will make you more vulnerable to infection, so report possible symptoms of infection to your GP immediately.
Cladribine was originally designed to treat cancer of the white blood cells (leukaemia), but it's also been shown to be useful in treating aggressive systematic mastocytosis. However, cladribine hasn't been approved (licensed) to treat mastocytosis.
Cladribine suppresses the activity of your immune system. It's given by infusion, which means it's slowly released into your body through a drip in your arm over the course of two hours.
Like imatinib, nilotinib and dasatinib, cladribine will also make you more vulnerable to the effects of infection, so you should report possible symptoms of infection to your GP immediately.
Systemic mastocytosis with associated blood (haematological) disease will be treated in the same way as aggressive systematic mastocytosis, with a number of additional treatments for the related haematological condition.
For more information about treating the most common haematological conditions, see:
Myeloproliferative neoplasms are also haematological disorders that can be associated with mastocytosis.
Because of your increased risk of anaphylaxis, you may be given an adrenaline auto-injector to use in an emergency.
Adrenaline is a natural chemical that helps fight the effects of too much histamine, while also relieving breathing difficulties. Each pen contains a single dose of adrenaline – 0.3mg for adults or 0.15mg for children.
There are three types:
These auto-injectors release adrenaline when jabbed or pressed against the outer thigh. The injections can be given through clothing.
If you're given an adrenaline auto-injector, you need to keep an eye on its expiry date because it won't be effective beyond this date.