What should I do?
If you think your child has Rett syndrome you should see a doctor within 48 hours.
How is it diagnosed?
Rett syndrome is rare and so the first stage in diagnosis is to rule out other more common conditions. If Rett syndrome is suspected, your child will need to be reviewed by a specialist paediatrician. A genetic blood test can confirm the diagnosis.
What is the treatment?
Treatment focuses on managing symptoms. If your child has Rett syndrome, a team of healthcare professionals may be involved in their care, including:
- speech and language therapist
- occupational therapist
Prescribed medication can be used to help improve problems with breathing, seizures and mobility.
When to worry?
If your child develops any of the following symptoms then they should see a doctor immediately:
- seizure or fit
- rapid, shallow breathing
- loss of consciousness.
Raynaud’s phenomenon is a common condition that affects the blood supply to certain parts of the body, usually the fingers and toes.
You may have heard of it referred to as Raynaud’s syndrome, Raynaud’s disease or just Raynaud's.
Why does it happen?
The condition occurs because your blood vessels go into a temporary spasm which blocks the flow of blood. This causes the affected area to change colour to white, then blue and then red as the blood flow returns.
Raynaud’s is usually triggered by cold temperatures or by anxiety or stress.
You may also experience pain, numbness and pins and needles in the affected body parts. Symptoms can last from a few minutes to several hours.
It is not a serious threat to your health but can be annoying to live with because it makes fine movements of the fingers difficult. People with Raynaud’s often go for long periods without any symptoms and sometimes the condition goes away altogether.
Read more about the symptoms of Raynaud’s.
In many cases it may be possible to control the symptoms of Raynaud’s yourself by avoiding the cold, wearing gloves and using relaxation techniques when feeling stressed.
Stopping smoking can also help improve symptoms, as smoking can affect your circulation.
If you are unable to control your symptoms yourself, then a medication called nifedipine may be recommended.
Read more about the treating Raynaud’s.
Types of Raynaud's
There are two types of Raynaud's. These are:
- primary – when the condition develops by itself (this is the most common type)
- secondary – when it develops in association with another health condition
Most cases of secondary Raynaud’s are associated with conditions that cause the immune system to attack healthy tissue (autoimmune conditions), such as:
- rheumatoid arthritis: when the immune system attacks the joints causing pain and swelling
- lupus: when the immune system attacks many different parts of the body causing a range of symptoms, such as tiredness, joint pain and skin rashes
The causes of primary Raynaud’s are unclear. However one in 10 people with primary Raynaud’s will go on to develop a condition associated with secondary Raynaud’s, such as lupus.
Your doctor can help to determine whether you have primary or secondary Raynaud's by examining your symptoms and carrying out blood tests.
Secondary Raynaud’s can cause a more severe restriction of blood supply so it does carry a higher risk of causing complications such as ulcers, scarring and even tissue death (gangrene) in the most serious cases. However, severe complications are rare.
Read more about the complications of Raynaud’s.
The main symptoms of Raynaud's are changes to the skin colour in the affected areas.
These changes to the skin usually happen in three stages:
- stage one: the affected body part turns white because blood supply is restricted
- stage two: it then turns blue due to lack of oxygen – during this phase the body part can feel cold and numb
- stage three: the body part turns red as the blood returns at a higher rate than normal – during this stage you may feel a tingling or throbbing sensation, and there may be some swelling in the affected body part
These symptoms gradually disappear as the flow of blood returns to normal.
An ‘attack’ of Raynaud’s can last from several minutes to several hours.
The most commonly affected areas of the body are the fingers and toes. Sometimes only a few fingers or toes may be affected. Other parts of the body that can be affected by Raynaud’s include the ears and nose.
Raynaud's phenomenon is the result of over-sensitive blood vessels in the body's extremities. In many cases, no cause is identified, although it is sometimes linked to other health conditions.
When your body is exposed to cold temperatures, the extremities, such as your fingers and toes, lose heat. This is because the small blood vessels under the skin spasm, slowing down the blood supply that helps to preserve your body's core temperature.
In people with Raynaud's, the sensitive blood vessels overreact to cold temperatures and narrow much more than usual, significantly restricting the blood flow.
Symptoms can be triggered by mildly cool weather, getting something out of the freezer, or running your hands under a cold tap. Strong emotions such as stress or anxiety may also trigger symptoms. Read more about [stress, anxiety and depression].
The most common form of Raynaud's is primary Raynaud's phenomenon. This means the condition occurs by itself, without being associated with another health condition.
It seems that primary Raynaud’s is caused by disruptions in how the nervous system controls blood vessels. Exactly what causes these disruptions is still unclear.
There is some evidence that Primary Raynaud’s may be an inherited condition as cases have been known to run in families.
In some cases, there is an underlying reason, usually a health condition, that causes the blood vessels to overreact. This is called secondary Raynaud's.
The majority of cases of secondary Raynaud’s are associated with what are known as autoimmune conditions. These are conditions that cause the immune system to attack healthy tissue, causing a range of symptoms such as redness and swelling in the affected area.
Autoimmune conditions known to be associated with secondary Raynaud’s include:
- scleroderma: a condition that causes hardening and thickening of the skin
- rheumatoid arthritis: which causes joint pain and swelling
- Sjogren's syndrome: where the immune system attacks the body’s sweat and tear glands
- lupus: which causes tiredness, joint pain and skin rashes
Around one in 10 people with primary Raynaud’s go on to develop an autoimmune condition.
Some types of cancer can cause secondary Raynaud’s. These are usually cancers that develop inside the blood, bone marrow or immune system, such as:
- acute lymphoblastic leukaemia: a cancer of the white blood cells that mainly affects children
- lymphoma: a cancer that develops inside one or more of the glands that are part of the immune system
- multiple myeloma: a cancer that develops inside bone marrow
Secondary Raynaud's can also be a side effect of taking certain medicines, including:
- some types of anti-migraine medication, such as sumatriptan and ergotamine
- beta-blockers, which are used to treat high blood pressure and heart disease
- some chemotherapy medications
- the contraceptive pill
- medications used in hormone replacement therapy
- some types of medications used in the treatment of high blood pressure, such as angiotensin-converting enzyme (ACE) inhibitors and clonidine
The [illegal drugs] cocaine and amphetamines can also cause secondary Raynaud’s.
Injury and overuse
Raynaud's sometimes results from a physical injury to the affected area. It can also affect musicians, people who type a lot or other people who use their fingers and hands more than usual.
Vibration white finger
Vibration white finger is a term used when secondary Raynaud's has been caused by exposure to vibration. This typically happens to people who regularly use certain types of vibrating tools, such as:
- sanders, grinders and disc cutters
- hammer drills
- chainsaws, hedge trimmers and power mowers
Any vibrating tool that causes tingling or numbness in your fingers after five minutes of continuous use could lead to vibration white finger.
Your employer has a responsibility to protect you from vibration white finger. You could get help from your employer by asking if the job could be done without using vibrating tools. If this is not possible:
- ask to use suitable low-vibration tools
- make sure you are using the right tool for the job
- check tools are properly maintained
- keep cutting tools sharp
- reduce the amount of time you use the tool in one go by doing other jobs in between
- keep warm at work
- wear anti-vibration gloves
- store tools indoors so they do not have cold handles when next used
- encourage your blood circulation by keeping warm, stopping smoking and massaging and exercising your fingers during your breaks
If you are diagnosed with vibration white finger, tell your employer as soon as possible. If you stop using vibrating tools at an early stage of the condition, you may recover fully.
Raynaud's phenomenon can usually be diagnosed after an examination of your symptoms and some blood tests.
Your doctor may place your hands in cold water or cool air to see if you show symptoms of Raynaud’s.
Further testing is usually recommended to find out whether you have primary or secondary Raynaud’s.
Secondary Raynaud’s may require more treatment and in some cases referral to a specialist.
The first step is usually to check if you have the following features, as these would suggest you have secondary Raynaud’s:
- your symptoms only started when you were over 30 years of age – most cases of primary Raynaud’s begin between the ages of 20 to 30
- you are experiencing severe pain during an attack of Raynaud’s
- only one side of your body is affected
Your doctor may also check the tiny blood vessels, known as capillaries, found where your nail meets the finger. These capillaries are commonly larger than normal in people with secondary Raynaud’s, and look like red pen marks.
Your doctor may also refer you for blood tests to check for other health conditions that may be causing your symptoms.
Full blood count
A full blood count is a measurement of how many of the different types of blood cells you have in your blood.
High levels of white blood cells could indicate your symptoms are the result of an infection, or much less commonly, a cancer of the blood such as leukaemia.
Antinuclear antibodies (ANA) test
This blood test checks for antinuclear antibodies in your blood. These antibodies are produced by your immune system and attack your body's own tissues.
If these antibodies are present, it indicates an overactive immune system, which is common in people with autoimmune conditions, such as rheumatoid arthritis and lupus. A positive result would strongly indicate that you have secondary Raynaud’s.
Erythrocyte sedimentation rate
This blood test measures how fast your red blood cells settle to the bottom of a test tube. A faster-than-normal fall rate can indicate an autoimmune disorder.
Treatment for Raynaud's phenomenon usually involves self-help techniques, although medication is sometimes necessary.
If you have been diagnosed with primary Raynaud’s you will probably be treated by your doctor.
If you have been diagnosed with secondary Raynaud’s, you may need to be referred to a specialist in the treatment of the underlying condition.
In most cases of Raynaud's, self help methods can help control symptoms (see below). If this does not work, then medication may be recommended. This is usually a medication called nifedinpine in cases of primary Raynaud's. Other medication may be used in cases of secondary Raynaud's, depending on the cause.
If it's thought your secondary Raynaud’s is a side effect of a medication you are taking, you may be asked to stop taking it to see if your symptoms improve.
The following advice is recommended for both primary and secondary Raynaud’s.
- Keep your whole body warm, especially your hands and feet. Wear gloves and warm footwear in cold weather.
- If you smoke, stop. Stopping smoking will improve your circulation, which should help improve symptoms.
- Exercise regularly as this helps improve your circulation and reduce stress levels (see below). For most people, 150 minutes of vigorous exercise a week is recommended.
- Try to minimise your stress levels. Regular exercise, eating a healthy diet, and relaxation techniques such as deep breathing or activities such as yoga, can help. You may find it useful to avoid stimulants such as coffee, tea and cola.
If you find it difficult to control feelings of stress, you may require additional treatment such as counselling. Read more about [therapies for stress].
Nifedipine is a calcium channel blocker, a type of medication that encourages the blood vessels to widen.
Depending on the pattern of your symptoms and how well you respond to treatment, you may be asked to take your medication every day. Alternatively, you may only need to take it on a preventative basis; for example, if there was a sudden snap of cold weather.
Side effects are common and include:
- swelling of certain parts of the body (oedema) such as your hands and feet, due to a build-up of fluid
Do not drink grapefruit juice when taking nifedipine as this could make side effects much worse.
The side effects should improve as your body gets used to the medicine, but tell your doctor if you find them particularly troublesome. There are alternative calcium channel blockers that may suit you better.
Other medications have been used to treat Raynaud’s, but their use is controversial as there is limited evidence to show they are effective in most people. However, some people have claimed to benefit from treatment. These medications include:
- angiotensin-converting enzyme (ACE) inhibitors
- fluoxetine, which was widely used in the treatment of depression
- sildenafil, which is used to treat erectile dysfunction (inability to get or maintain an erection)
Surgery for Raynaud's is rare. It is usually only recommended if your symptoms are so severe there is a risk the affected body part, such as your fingers, could lose their blood supply and begin to die. Read more about the complications of Raynaud's phenomenon.
A type of surgery called sympathectomy is sometimes used. It involves cutting the nerves that cause the affected blood vessels to spasm.
The results of a sympathectomy are often only temporary and further treatment and possibly more surgery may be required after a few years.
People with Raynaud's phenomenon have an increased risk of developing other problems, such as scleroderma.
Around one in 16 woman and one in 50 men with Raynaud’s will develop a condition called scleroderma, usually between the ages of 25 and 55.
Scleroderma is when the body produces excessively high levels of collagen.
Scleroderma is a Greek word meaning hard skin, but it can affect other areas of the body such as the kidneys, heart and lungs.
Symptoms of scleroderma include:
- puffy and itchy skin
- tight and uncomfortable joints
- small calcium spots and red spots under the skin
- trouble swallowing, which is known as dysphagia
- diarrhoea, bloating or constipation
There is no cure for scleroderma, but there are ways of overcoming problems it may cause.
For example, medicines can reverse or slow down the processes that cause damage around the body.
Ulcers and gangrene
In severe cases of Raynaud’s, the blood supply to an affected body part can become severely diminished. Without a constant supply of blood, the tissue in the body part will begin to die. This problem is rare and normally only occurs in secondary Raynaud's.
The initial sign is an open sore, known as an ulcer, which develops on the surface of the body part. If you suspect you have a skin ulcer, contact your doctor for advice.
Left untreated, the tissue can die, which is known as gangrene (specifically, dry gangrene).
The symptoms of dry gangrene normally begin with a red line on the skin that marks the edges of the affected tissue. The tissue becomes cold and numb and can be painful as the tissue dies. However, many people, particularly the elderly, experience no sensations.
The affected area changes colour from red, to brown, to black. The dead tissue will then shrivel up, separate from the healthy tissue and fall off.
These complications will normally require admission to hospital where you will be given medication designed to thin your blood, which should help restore blood flow.
If you fail to respond to treatment you may need surgery to unblock or repair damaged blood vessels.