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Mastocytosis Content Supplied by NHS Choices
Introduction

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:

  • cutaneous mastocytosis, which mainly affects children - where mast cells gather in the skin, but aren't found in large numbers elsewhere in the body
  • systemic mastocytosis, which mainly affects adults - where mast cells gather in body tissues, such as the skin, internal organs and bones

There are also several subtypes of systemic mastocytosis, depending on the symptoms.

This topic covers:

What are mast cells

Symptoms

Causes

Diagnosis

Treatment

Complications

Mast cells

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.

Symptoms of mastocytosis

The symptoms of mastocytosis can vary depending on the type.

Cutaneous mastocytosis

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.

Systemic mastocytosis

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:

  • skin reactions - such as itching and flushing
  • gut symptoms - such as vomiting and diarrhoea
  • muscle and joint pain
  • mood changes, headaches and episodes of tiredness (fatigue)

There are three subtypes of systemic mastocytosis. They are:

  • indolent mastocytosis - symptoms are usually mild to moderate and vary from person to person; indolent mastocytosis accounts for around 90% of adult systemic mastocytosis cases
  • aggressive mastocytosis - where mast cells multiply in organs, such as the spleen, liver and digestive system; the symptoms are more wide-ranging and severe, although skin lesions are less common
  • systematic mastocytosis with associated blood (haematological) disease - where a condition that affects the blood cells, such as chronic leukaemia, also develops

Severe allergic reaction

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.

Causes 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).

Diagnosing mastocytosis

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:

  • blood tests - including a full blood count (FBC) and measuring blood tryptase levels
  • an ultrasound scan to look for enlargement of the liver and spleen if it seems likely
  • 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 one underneath, usually in the pelvis

A diagnosis of systemic mastocytosis is usually made by finding typical changes on a bone marrow biopsy.

Treating mastocytosis

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.

Complications of 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.


Symptoms

Mastocytosis causes a wide range of symptoms, which can vary depending on the type of mastocytosis you have.

Cutaneous mastocytosis

Skin lesions are a characteristic of cutaneous mastocytosis. Types of lesions known to occur in cutaneous mastocytosis include:

  • small areas of skin that change colour (macules)
  • small firm, raised bumps (papules)
  • larger raised, red bumps (nodules)
  • large raised areas of skin noticeable to the touch (plaques)
  • blisters - which mainly affect young children with mastocytomas (tumours consisting of mast cells) or diffuse cutaneous mastocytosis (a rare form of cutaneous mastocytosis)

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.

Systemic mastocytosis

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:

  • hot flushing - described as a dry feeling of heat, rather than the sort of wet heat you experience when sweating
  • a forceful or rapid heartbeat (heart palpitations)
  • dizziness (lightheadedness)

Less common symptoms during an episode include:

  • headache
  • shortness of breath
  • chest pain
  • nausea
  • diarrhoea

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:

  • physical factors - such as heat, overheating, cold, fatigue and physical exertion
  • emotional factors - such as stress and excitement
  • insect bites or stings - such as flea bites or a wasp sting
  • infection - such as the cold or flu
  • alcohol
  • certain medications - such as ibuprofen, aspirin and antibiotics
  • certain foods - such as cheese, shellfish and spices

Abnormal mast cells in your bone marrow and organs can also cause related symptoms, including:

  • stomach pain caused by peptic ulcers
  • loss of appetite
  • joint pain
  • weakness
  • fatigue
  • changes in mental state - such as confusion, irritability, poor attention span and impaired memory
  • urinary symptoms - such as needing to pass urine frequently or pain when urinating

In more severe cases of mastocytosis, the following symptoms may occur:

  • weight loss
  • swelling of the lymph nodes
  • swelling of the liver - which can cause jaundice and make you feel lethargic
  • swelling of the spleen - which can cause tummy (abdominal) and shoulder pain

Low blood pressure (hypotension)

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:

  • dizziness
  • fainting
  • blurred vision
  • confusion
  • general weakness

Severe allergic reaction

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:

  • itchy skin or a raised, red skin rash
  • swollen eyes, lips, hands and feet
  • feeling lightheaded or faint
  • narrowing of the airways, which can cause wheezing and breathing difficulties
  • abdominal pain, nausea and vomiting

Dial 999 immediately and ask for an ambulance if you think you or someone else is experiencing symptoms of anaphylaxis.


Treatment

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.

Steroid cream

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:

  • thinning of the skin, which can sometimes result in permanent stretch marks
  • a temporary reduction in the pigmentation of the skin
  • the affected area of skin bruising easily

You should only apply the cream to areas of skin affected by lesions to reduce the risk of side effects.

Antihistamines

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

Sodium cromoglicate is a medication used to treat conjunctivitis, asthma and food allergy. It may also be used to treat gut symptoms of mastocytosis, but isn't absorbed well from the bowel.

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.

PUVA

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.

Steroid tablets

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:

  • an increase in appetite
  • weight gain
  • insomnia
  • fluid retention
  • mood changes, such as feeling irritable or anxious

Bisphosphonates and calcium supplements

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.

H2-receptor antagonists

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.

Interferon alpha

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

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:

  • a high temperature (fever) of or above 38C (100.4F)
  • headache
  • aching muscles
  • diarrhoea
  • tiredness

Nilotinib and dasatinib

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

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.

Treatments for haematological disease

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:

Treating acute myeloid leukaemia

Treating chronic myeloid leukaemia

Treating acute lymphoblastic leukaemia

Treating chronic lymphocytic leukaemia

Treating lymphoma

Treating multiple myeloma

Myeloproliferative neoplasms are also haematological disorders that can be associated with mastocytosis.

Using an adrenaline injection pen

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:

  • EpiPen
  • Jext
  • Emerade

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.


 
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