What is it?
Systemic sclerosis, also known as scleroderma, is a condition which results in hardening of the skin and body organs. This is due to the body making too much of a tissue component, collagen. This causes abnormal thickening and tightening of the skin, and in some cases, other organs in the body can be affected.
The blood vessels are also involved, which affects the circulation particularly to the fingers and toes. Many patients with systemic sclerosis also suffer from Raynaud's phenomenon, a painful condition where the circulation to the fingers and toes is temporarily obstructed. More...
Systemic sclerosis is divided into two groups depending on the symptoms:
- Limited cutaneous systemic sclerosis (used to be known as CREST syndrome). More...
- Diffuse cutaneous systemic sclerosis. More...
What are the symptoms?
People with this condition commonly have Raynaud's phenomenon 1. This is often the first sign of the disease. However, it is important to note that many people suffer from Raynaud's’ phenomenon without developing systemic sclerosis. Raynaud's’ can causes pain in the fingers, and sometimes, the toes.
Because the body is making too much collagen, over time, the skin becomes thickened and hardened. This can cause the skin to become tight, particularly around the hands and face, and the skin can contract. This can make it more difficult to straighten the fingers, and open the mouth fully.
People with systemic sclerosis commonly get problems with their digestive tract. The disease affects the gullet, and this can cause heartburn, acid reflux and sometimes difficulty in swallowing food. In some cases, food may not be absorbed properly from the gut, which can cause people to lose weight.
In more serious cases, damage to internal organs can sometimes cause lung disease. This may show up as difficulty in breathing, particularly when performing strenuous activities. This can also make you feel more tired and more easily worn out than usual. The kidneys can also be affected, which will show up as high blood pressure.
There are a range of medical and non-medical treatments for systemic sclerosis. For more information see: How is systemic sclerosis treated?, What medication can help? and What can I do to help?
Who gets it?
This condition can affect anyone. It is rare, however, affecting about 1 person out of every 100,000. Women tend to get the disease more commonly than men. It often affects middle-aged people, but can rarely be seen in children.
Why me?
We do not know why some individuals get systemic sclerosis. It may, in part, be caused by genetics or by the environment. However, there is no single thing that you may have done in the past to cause systemic sclerosis, and no preventative measures you can take to avoid getting this disease.
What causes it?
Systemic sclerosis falls in a group of conditions known as “Connective tissue disease”. Nobody really knows what causes this condition to happen, but the current theory suggests that it may be related to the body’s immune system recognising your own body cells as foreign and attacking them. It is not known what causes the immune system to do this, but it is thought it could be due to an unidentified environmental factor, or that some people, for some reason, are more susceptible to developing this disease.
It is the reaction of the body to this attack by the immune system that results in the two main features of this disease: excess collagen production, and damage to blood vessels.
Collagen is an essential normal component of skin and internal organs that provides them with strength and structure. In systemic sclerosis, collagen is over-produced. Therefore, the skin gets too thick, and this causes tightening.
The blood vessels are affected, and they can go into spasm, which then limits the blood flow to certain organs, such as the hands and kidneys. This is usually temporary, but over time, the walls of the blood vessels become thickened, which can limit the blood supply to an organ, and cause it not to function properly.
Can it be passed on?
There is no clear pattern of inheritance associated with systemic sclerosis. Genetics do have a role to play in the disease, as some studies have shown that particular families can be more susceptible. However, it is thought that genetics only play a very minor role, as there are many examples of identical twins, where only one twin ever gets the condition.
On the whole, it is thought that systemic sclerosis is something that is acquired rather than inherited, although some people may be slightly more susceptible to developing the disease based on their genetic make-up. So it is likely that children of affected parents will only have a very slightly increased risk of developing the disease in comparison to the rest of the population.
What body systems can be affected?
Skin
The skin is nearly always involved in systemic sclerosis
Hands
Usually, changes in the hands are one of the first symptoms of systemic sclerosis. Initially, the fingers may become tight and puffy, giving a sausage-like appearance.
Over time, the swelling goes down, but the skin then gradually becomes thickened and tight. The skin appears shiny, and hair may be lost over the affected area.
The tightened skin can prevent the hands from opening fully or being able to make a tight fist, so can affect the ability to perform everyday tasks such as doing up buttons.
Eventually, the rate of progression stabilises and occasionally, the skin can soften and function improves.
In diffuse cutaneous systemic sclerosis 3, this can happen over a period of months to a year. In limited cutaneous systemic sclerosis2, it takes about 5-10 years for these changes to occur.
Doria A, Rondinone R. Division of Rheumatology, University of Padova, Italy.
www.doctor33.it/eular/dosearch.asp
Face
Changes in the face often happen over a period of years. Skin tightening can make the lips appear thinner. It may become more difficult to open the mouth widely, which can affect teeth-brushing and eating. Therefore regular dental checks are very important.
Other areas of skin
In diffuse cutaneous systemic sclerosis 3, skin on other parts of the body can be affected as well as the hands and face. This can cause difficulty in moving limbs, and, if the chest is affected, can make it more difficult to take a deep breath.
After many years, the skin may lose its thickened appearance and revert back to normal thickness, or become thinner than normal.
Other skin changes
Some people with systemic sclerosis develop thread veins, known as “telangiectasia” These are clusters of tiny blood vessels just under the skin which enlarge in size and fill with more blood than usual, and become apparent under the skin. The numbers of telangiectasia can increase over time.
http://health.yahoo.com/topic/skinconditions/overview/article/mayoclinic/3441DFC3
Patients can also have hard lumps of calcium under their skin, known as “calcinosis” This is often seen in patients who suffer from the limited cutaneous systemic sclerosis 2 variant. They commonly form on the tips of fingers, shins and forearms. Most are very small, only a few millimetres, although they can grow bigger. They can be painful, and very large lumps can be removed by surgery.
www.sclero.org/medical/symptoms
Calcinosis seen on a thumb X-ray
Calcinotic fragments usually push through the skin without any treatment.
This patient collected them all over several years!
There are several measures that you can take to minimise changes to your skin. For more information see: What medication can help? and What can I do to help?.
Blood vessels
As systemic sclerosis affects blood vessels, this causes Raynaud's phenomenon 1 in the hands. This is often brought on by exposure to cold temperatures. The vessels go into spasm and the blood flow to the hands is stopped for a short while. This causes the fingers to go white, and is painful. After a short while, the blood vessels relax and blood flow to the fingers is restored.
A further complication associated with systemic sclerosis, is that the blood flow to the hands can be poor enough to starve the tips of the fingers of their oxygen supply, and ulcers may develop on the finger tips. It is very important to tell your doctor if the tips of your fingers become painful or an ulcer develops, so that it can be treated quickly.
www.sclero.org/medical/symptoms/skin/digital-ulcers.html#stemcells
ISN Photo Repository, contributed by Jeanne N.
Digestive system
The digestive tract is affected in systemic sclerosis, and can be responsible for causing most of the symptoms of this disease.
The gullet is most commonly affected, and this causes symptoms of heartburn. This is because the valve that normally holds acid in the stomach does not function normally, allowing acid to reflux up into the gullet.
The tightening seen in the skin can also occur in the food pipe, preventing it from functioning properly. This can cause difficulty with swallowing, and food and drink can take longer than normal to pass through to the stomach.
The stomach may not function as effectively, which may cause bloating. Uncommonly, it can cause nausea and vomiting.
Occasionally, the intestines are affected, and can prevent adequate absorption of food and nutrients. This may cause weight loss, or vitamin deficiencies.
Symptoms of heartburn can be effectively treated with Proton pump Inhibitor tablets, and there are a number of small changes you can make to your lifestyle which will help to avoid heartburn. Click here for more information.
Lungs
Systemic sclerosis can affect the lungs in two ways: it causes the lungs to become stiffer (pulmonary fibrosis), and can increase the blood pressure in the lungs (pulmonary arterial hypertension).
Pulmonary fibrosis
This is a condition that causes the lungs to become stiffer and thicker than usual, which can make breathing more difficult. The increased thickness of the lungs, caused by inflammation, makes it more difficult for oxygen to get across the air space into the blood.
Pulmonary arterial hypertension
As systemic sclerosis affects blood vessels, the blood vessels in the lungs can also be affected. The condition causes the blood vessel walls to become thick; this increases the pressure inside the lungs and puts extra strain on the heart. About 10% of people with systemic sclerosis may develop pulmonary arterial hypertension.
This can cause shortness of breath when performing exercise or activities such as climbing a flight of stairs.
This condition can be potentially serious, but there is effective treatment. If you experience shortness of breath, it is important to mention this to your doctor who can then perform lung function tests.
If you suffer from lung problems, it can be very helpful to consider pacing your day, to ensure that you are able to carry out activities without getting short of breath.
Kidneys
Kidney complications in systemic sclerosis used to be common, but fortunately there are now effective medications that prevent serious kidney disease.
Systemic sclerosis damages blood vessels by making the walls thicker than normal. If this happens to the blood vessels supplying the kidney, the blood flow is reduced. This can directly damage kidney cells, which will cause the kidneys to function less effectively.
A serious, but now fortunately rare complication, is the development of very high blood pressure. When the kidneys do not receive enough blood to function properly, they secrete hormones that cause the blood pressure in the body to increase, sometimes to dangerous levels. The symptoms of this are decreased urine or no urine production, headaches, dizziness and blurred vision. Fortunately there are now effective drugs called ACE inhibitors that counteract the hormones that are produced by the kidney to prevent high blood pressure.
It is very important to ensure that your blood pressure is monitored regularly to prevent complications of high blood pressure.
How quickly will all this happen?
It is difficult to predict how quickly changes caused by systemic sclerosis may occur. Everybody is affected differently by the disease, and some people may experience many symptoms and some people relatively few.
Most individuals with systemic sclerosis have stable disease that does not worsen over time.
Will it affect the quality of my life?
With good treatment and support, systemic sclerosis is a manageable condition that need not affect the quality of your life.
However, you may find that tightened skin may affect hand function, which can make some day-to-day tasks difficult. Certain exercises can help to limit this problem. Click here for more details.
Heartburn and indigestion can be problematic, but there are a number of strategies that can be taken to minimise these symptoms, described here.
With more serious disease, lung problems may cause shortness of breath, and you may tire out easier than normal. There is now effective treatment for the lung complications of systemic sclerosis.
Some people may experience difficulties adapting to a diagnosis of a long-term condition such as systemic sclerosis. If you think that you may be feeling depressed, it is important to discuss this with your GP who can provide appropriate support.
Will it affect the length of my life?
It is very difficult to answer this question, as the disease affects everyone differently. Most people do not have a limited life span because of systemic sclerosis.
Lung disease, particularly the development of pulmonary hypertension, is the most serious consequence of systemic sclerosis, but with treatment, survival and quality of life is constantly improving.
How is systemic sclerosis diagnosed?
As systemic sclerosis is not a common disease, and many of the symptoms and signs may take years to develop, it may often take some time to get a diagnosis. This can be a frustrating time for the patient.
There is no single test that can detect systemic sclerosis; the diagnosis is made based on several test results, the history, and the physical findings that fit a pattern characteristic of systemic sclerosis.
It is often the physical findings that provide the most information, and more complex tests, such as blood tests and some x-rays are then used to confirm the diagnosis.
Physical findings:
Virtually all patients with systemic sclerosis will suffer from Raynaud's phenomenon 1
Most people will have had symptoms of heartburn and indigestion.
The hands are examined for evidence of finger swelling or thickened skin, and for any difficulties in straightening the fingers.
Lumps of calcium under the skin may be present.
Clusters of small blood vessels, known as telangiectasia, may be apparent under the skin.
Tests that are used to assist with the diagnosis are:
Blood tests
A sample of blood is taken to look for “autoantibodies.” These are antibodies directed against the body’s own cells. Particular types are associated with systemic sclerosis, and are present in about 70% of cases. More...
Lung function tests
These simple tests are performed to look for evidence of any lung disease. They involve breathing through a special machine that measures the size and elasticity of the lungs, and how well they are able to transport oxygen from the lungs into the blood stream.
www.harthosp.org/PulmonaryRehab/tests.htm
Imaging tests
- Chest x-ray.
- This is performed to look at the lungs and size of the heart, and helps to rule out causes of lung disease other than systemic sclerosis.
- Barium swallow.
- This x-ray test involves drinking a chalky liquid that shows up the upper digestive tract whilst x-rays are taken. It will show up any problems with swallowing and any narrowing caused by the disease.
- High resolution chest CT scan.
- A 3-D x-ray is taken of the chest to show the lungs in detail. The test involves lying on a bed whilst the x-ray tube rotates around and takes just a few minutes.
How is systemic sclerosis monitored?
Monitoring of systemic sclerosis is an important part of the management of this condition. Many of the tests are straightforward and will be performed by your GP.
Monitoring tests include:
- Blood pressure
- Raised blood pressure can indicate kidney damage in systemic sclerosis.
- Urine samples
- The urine is checked to look for evidence of any kidney damage.
- Blood tests
- Routine blood tests are performed to assess the levels of red and white blood cells as a general health check.
The kidney function can also be assessed.
- Lung function tests
- These can be performed on a yearly basis (more frequently if there is any evidence of lung disease, or after trying a new treatment), to assess if there has been any damage to the lungs caused by systemic sclerosis. This is performed at a hospital as an out-patient. [More information on lung function tests].
A “Six-minute walk test” is also performed. This measures the distance walked in six minutes, and is a useful indicator of the degree of lung impairment, and response to medication.
How is systemic sclerosis treated?
The aim of treatment of systemic sclerosis is to treat the symptoms, and try and prevent serious complications.
Your GP will be responsible for much of the routine management of systemic sclerosis. Most patients will also be seen by a hospital doctor (rheumatologist) who specialises in systemic sclerosis once every 3 or 12 months, who will ensure that treatment is optimal.
Physiotherapists and occupational therapists also play an important role in the management of this condition. Physiotherapists show patients exercises to help limit skin thickening, and occupational therapists can teach new ways to perform many day-to-day activities that may become more difficult with this condition.
At present, there is no cure for this condition, but there have been many advances in current treatments for systemic sclerosis.
What medication can help?
- Nearly all people with systemic sclerosis will be prescribed a:
- Calcium channel blocker (e.g. Nifedipine)
- ACE Inhibitor (e.g. Lisinopril)
- Some patients may require a proton pump inhibitor (e.g. omeprazole, esomeprazole, lansoprazole).
- ACE Inhibitor (e.g. Lisinopril)
- Other treatments include:
- Prostacyclines (e.g. Epoprostenol, Treprostinil, Iloprost).
- Sildenafil [Viagra]).
- Bosentan
- Cyclophosphamide
- Sildenafil [Viagra]).
Calcium channel blockers
These are prescribed to help with the symptoms of Raynaud's phenomenon 1. Raynaud's occurs when the blood vessels supplying the hands go into spasm.
Calcium channel blockers are effective as they inhibit the nerves that control these blood vessels from sending signals telling them to constrict. This reduces the degree of spasm that the blood vessels go into during an attack.
ACE inhibitors
ACE (angiotensin converting enzyme) inhibitors are a very important type of drug and have revolutionised the treatment of systemic sclerosis. They work by effectively lowering blood pressure. A common complication of systemic sclerosis used to be dangerously high blood pressure, which was caused as a result of kidney damage.
ACE inhibitors effectively lower blood pressure and avoid this serious complication. Most people will take them every day as a preventative measure.
Proton pump inhibitors
These drugs work on the stomach to prevent the production of acid. They will help people who suffer from acid reflux due to systemic sclerosis. They come in the form of tablets, and are taken once a day.
Prostacyclines, Sildenafil and Bosentan
These drugs are effective in dilating blood vessels, particularly in the lungs, and so are prescribed if you have symptoms of pulmonary arterial hypertension. They can also help lessen Raynaud's attacks. They will be prescribed by your specialist hospital doctor. They are often effective in improving symptoms, particularly those of breathlessness. They have also been shown to improve long-term outcomes.
Prostacyclines can either be inhaled, or can be given intravenously (through a vein in the arm). Your hospital consultant rheumatologist will prescribe this medication, if you require it.
Cyclophosphamide
This medication can be prescribed early on in the course of systemic sclerosis, to try and minimise the extent of lung damage caused by pulmonary fibrosis. It is only effective if it is given during the active (inflammatory) stages of lung fibrosis.
What can I do to help?
Although medications form a very important part of the treatment of systemic sclerosis, there are other measures that can be taken that will improve symptoms you may experience.
Attacks of Raynaud's can be avoided by recognising the triggering factors. Commonly, cold is an important trigger, so by keeping the hands warm an attack can be avoided. This can be achieved by always wearing gloves before going outside, or when getting items from the fridge or freezer, or touching cold objects such as metal. Hot water bottles or heated gel pads may also help to keep the hands warm.
Stress can be another triggering factor, so trying to minimise stressful situations will be of benefit.
There are many products available on the market that may help. A good selection is found here
Smoking will worsen Raynaud's, as the chemicals in cigarettes cause blood vessels to narrow. Therefore it is very important that you give up smoking. Your GP can provide a great deal of support in helping to give up smoking.
The skin is nearly always dry in systemic sclerosis; a vitamin E-based moisturiser or petroleum jelly applied several times a day will help to keep it supple. The skin condition can also be improved by avoiding using soap and excessive bathing and handwashing.
Systemic sclerosis can make the mouth more difficult to open fully. This may cause problems with dental hygiene. Therefore it is very important that you have regular check-ups with your dentist who should be made aware of your condition.
To help with skin tightening, regular skin stretching exercises may help. This may involve stretching of the mouth with the fingers, and opening the mouth as widely as possible and holding it open for a few seconds each day. Active hand movements should be made every day to try and prevent contractures, such as making tight fists, and pressing the hands tightly together in the “prayer” position.
www.doctor33.it/eular/dosearch.asp
Grassi W. Department of Rheumatology, University of Ancona, Italy
Exercise will also help, if performed regularly. Simple exercises to perform, are to move each of the joints in turn through their full range of motion once a day. It is important not to forget jaw and facial movements in this routine. This will help prevent the joints from stiffening up.
Your physiotherapist can provide more advice and demonstrate effective exercises.
To help with symptoms of heartburn, it is advisable not to eat anything 2-3 hours before bed, and to sleep with several pillows to elevate the head. Certain foods can make reflux worse, such as caffeine, chocolate and alcohol. It is sensible to eat several small meals throughout the day rather than a few large meals. Losing weight, if you are overweight, will also help alleviate symptoms. It is advisable to avoid non-steroidal anti-inflammatory medications, such as ibuprofen and aspirin, as these can increase production of stomach acid.
Pacing
“Pacing” is a process that anyone can do which make everyday tasks more manageable, and may be a useful skill if you suffer from breathing problems. By being more aware of your individual capabilities, breaking tasks down into stages, and planning your day in advance, you may fund that you have more energy and do not get as short of breath. See http://www.cambridge-arthritis.org.uk/pain3.php?name=BackPain-pacing for more information on this.
Equipment
There are many adaptive devices available that can assist those who find certain everyday tasks more difficult. The occupational therapists are specialists in this area. Available devices include cutlery with bigger handles, which are easier to grip, long-handled shoe horns, button hooks, jar openers, and long-handled sponges.
Further apparatus for the home may also be available such as extra bars and stair rails, shower benches, and castors to raise chair heights, making them easier to get in and out of.
Occupational therapists have more information on the type of equipment that may be suitable for you.
What other help is available?
Systemic sclerosis can sometimes be a frightening and lonely experience. It may help to get in touch with organisations that can provide more information on the subject, such as leaflets and books. It may be possible to contact others with systemic sclerosis. Many people find talking to others who understand the condition from their perspective a positive experience.
- Two UK-based organisations that are particularly useful are:
- Raynaud's and scleroderma association
- Scleroderma society
More locally, some people may find it beneficial to speak to a counsellor. Your GP can provide information about this. Although the counsellor will not be trained in systemic sclerosis, many of the issues that can affect people with this condition can be explored.
There are many hand-warming and heating devices, available to purchase, which may help reduce or prevent attacks of Raynaud’s. Heated gel pads are available in many “outdoor” stores and supermarkets. The Raynaud’s and Scleroderma association has a useful section on mail-order products that are very useful.
LINKS
Raynaud’s Phenomenon
In isolation, Raynaud's phenomenon is a very common disorder, affecting about 10% of the population. Women are affected more commonly than men. In a small percentage of people with Raynaud's, it is associated with other diseases such as systemic sclerosis.
It is thought Raynaud's phenomenon occurs as a result of the body over-reacting to certain stimuli, most commonly, the cold. When the hands are exposed to the cold, which may be only a very slight change in temperature, the blood vessels tighten up, which then blocks the blood supply to the fingers. This can be painful. Stressful situations can also trigger an attack.
When a typical attack occurs, the affected fingers will initially go white, as there is no blood reaching them, they will then turn blue and then red as eventually the blood vessels relax and blood can then enter the fingers. Sometimes the toes are affected and very rarely the ears and nose can be affected.
www.sclero.org/medical/symptoms/raynauds/a-to-z.html
Limited cutaneous systemic sclerosis
In this type of systemic sclerosis, you may get thickening of the skin on the hands, face and feet. Other areas of the skin are usually spared.
The skin thickening tends to stabilise after about 10 years.
Raynaud's phenomenon 1 also occurs, which is often present for many years before the skin changes occur.
Hard deposits of calcium under the skin, known as calcinosis, can form. These small lumps can become painful.
Surface blood vessels can become more visible, showing up under the skin. This appearance is given the name telangiectasia.
In a small number of individuals, poor circulation to the hands can lead to the development of ulcers on the finger tips. It is important to tell your doctor about any pains in your fingers, or if any sores develop so that they can be treated.
A possible complication is the development of pulmonary hypertension 4.
Diffuse cutaneous systemic sclerosis
The symptoms of this type of systemic sclerosis often develop over the course of a few months. Raynaud's phenomenon1 develops, and you may experience ‘flu-like symptoms such as aches and pains in muscles and joints, and feeling generally under the weather.
Most people will experience some degree of skin tightening, which typically occurs in the hands. Some people will get skin tightening over other body areas.
The internal organs can also be affected. Changes in the kidney can cause high blood pressure, and you may also find that you suffer from heartburn as the gullet does not work as effectively. A few people can experience breathing difficulties when performing strenuous activities, as the lungs may become damaged. In a few people, poor blood flow to the hands may lead to the development of ulcers.
It is important to discuss any of these symptoms with your doctor, so that he or she can prescribe appropriate treatment.
In most cases of diffuse systemic sclerosis, symptoms tend to stabilise after about 5 years.
Some patients have systemic sclerosis without the skin being affected. They do not suffer from skin thickening, however, Raynaud's’ phenomenon may be present. These people still have the internal complications of systemic sclerosis, so can develop lung, kidney and digestive system problems. This type of systemic sclerosis is known as “scleroderma sine scleroderma”
Autoantibodies
Autoantibodies are proteins found in the blood. Antibodies are part of the body’s immune response in defending itself against foreign agents. Autoantibodies, are antibodies which are made against normal cells in the body. The presence of autoantibodies causes the immune system to be directed against normal tissues of the body, and can therefore cause “autoimmune disease”
Particular types of autoantibodies are associated with Systemic sclerosis. The identification of these can assist in confirming the diagnosis, and help to tell which type of systemic sclerosis is present. The type of autoantibody present can also help in predicting possible development of complications, and predict the prognosis.
In about 90% of cases of systemic sclerosis, autoantibodies of some type will be present.
In limited cutaneous systemic sclerosis, a particular type of autoantibody known as anticentromere antibodies are found in 70% of patients. In diffuse cutaneous systemic sclerosis, anticentromere antibodies are not present. However, 30% of patients will have antitopoisomerase (Scl-70) antibodies.
These pages have been prepared by clinical student Sarah Rose, in conjunction with members of the Rheumatology department.
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