Sarcoidosis

What is sarcoidosis?

Sarcoidosis is a condition causing inflammation within the body. This inflammation causes tiny lumps to form, known as granuloma, at various sites within the body. Sarcoidosis most commonly affects the lungs and lymph glands in the chest area (pulmonary sarcoidosis). However, it can affect almost any part of the body including the eyes, skin, heart, liver, kidneys, salivary glands, muscles, nose, sinuses, brain and nerves. It is the presence of the granulomas formed in response to the inflammation that causes the symptoms in the various parts of the body.

What causes sarcoidosis?

The exact cause of sarcoidosis is not known. It seems likely that there is some genetic susceptibility to sarcoidosis as it can run in families. It has been suggested that an infection, or some environmental agent, may trigger sarcoidosis in someone who is genetically prone to it. So far, no specific infection or agent acting as this trigger has definitely been identified.

Who gets sarcoidosis?

Sarcoidosis is relatively rare and affects about 10 to 20 people per 100,0000 in the UK. Women are a little more likely to be diagnosed with sarcoidosis than men. It is most commonly first diagnosed between the ages of 20 to 40 years. However, sarcoidosis can affect younger or older people. Sarcoidosis seems to be more of a problem in some countries rather than others. It is most common in Sweden and Denmark. It also seems to be more common in Afro-Caribbeans than other ethnic groups.

Which parts of the body are affected in sarcoidosis?

Sarcoidosis can affect almost any part of the body. It can also affect more than one part of the body at one time.

• The lungs are most commonly involved in sarcoidosis. 9 in 10 people with sarcoidosis have lung involvement.
• The lymph glands, either in the chest or elsewhere in the body, are affected in 3 in 4 people with sarcoidosis.
• The skin is affected in 1 in 4 people with sarcoidosis.
• The eyes are affected in 1 in 4 people with sarcoidosis.
• The heart is affected in 1 in 20 people with sarcoidosis.
• The nerves and nervous system is affected in 1 in 20 people with sarcoidosis.
• Sarcoidosis can also affect other parts of the body including the bone marrow, the liver, the spleen, the kidneys, the heart, the nervous system and the gut.

How does sarcoidosis develop and progress?

Up to half of people with sarcoidosis do not know that they have it. In these people it is diagnosed when they have a chest X-ray for another reason. They have no symptoms.

In about 4 in 10 people with sarcoidosis, the symptoms come on quite quickly over a couple of weeks. This may be referred to as acute sarcoidosis. Generally, acute sarcoidosis has a good outlook and tends to go away without treatment. Löfgren syndrome is one type of acute sarcoidosis which is a combination of erythema nodosum (see below) with swollen or enlarged lymph glands seen on your chest X-ray, uveitis (inflammation in the eye) and joint pains. It tends to come on quickly and often goes away without specific treatment.

In others, symptoms come on more slowly over a few months. This may be referred to as chronic sarcoidosis. Symptoms can get worse over time and often treatment is needed.

What are the symptoms of sarcoidosis?

The symptoms in sarcoidosis can vary between people. This is because sarcoidosis can affect so many different organs and parts of the body. General symptoms can include fever, loss of appetite, feeling tired, weight loss and joint pains. Other symptoms depend on the area of the body affected:

• Lungs - You may notice shortness of breath (particularly on exertion), cough, chest pain or, rarely, you may cough up blood (haemoptysis).
• Lymph glands - These may be swollen and you may notice lumps under your arms, in your neck or in your groins. Doctors may also notice swollen glands in your chest area when they look at your chest X-ray.
• Skin - You may develop small nodules (lumps) just under the surface of your skin. You may also develop a purplish, raised rash on your nose, cheeks, chin and ears. This rash is called lupus pernio. Erythema nodosum is a condition that causes red nodules (rounded lumps), most commonly on the shins. This may develop at the start of sarcoidosis and is the most common skin rash in sarcoidosis. (See is a separate leaflet called 'Erythema Nodosum').
• Eyes - Sarcoidosis can cause inflammation within your eyes, including uveitis. This can affect your vision. Your eyes can become red and painful. (See separate leaflet on 'Uveitis and Iritis'.) You should see a doctor straight away if you have sarcoidosis and notice any eye symptoms.
• Heart - Sarcoidosis can affect your heartbeat by making it slower or irregular. Damage to the lungs caused by sarcoidosis may also cause changes in the right side of your heart and it can become enlarged. This is known as cor pulmonale and can lead to heart failure if left untreated. Your heart can also become generally enlarged in sarcoidosis, known as cardiomyopathy. This means that your heart cannot beat as strongly or effectively and you can become breathless. It can also lead to heart failure.
• Nerves - Your nervous system can be affected in a number of ways in sarcoidosis. It can lead to headaches, problems swallowing, drooping of your face, a type of meningitis, eyesight or hearing problems. It can also cause numbness and pins and needles in your face, arms or legs. Rarely, it can lead to convulsions or stroke.
• Kidneys - Sarcoidosis mainly affects the kidneys by causing kidney stones because of high levels of calcium in the blood.
• Liver and spleen - These organs may become enlarged in sarcoidosis. Rarely this can cause problems with your blood clotting or can lead to anaemia.

How is sarcoidosis diagnosed?

The investigations that your doctor will carry out if they suspect that you have sarcoidosis will depend on which part of your body is affected by the inflammation.

Tests to look for lung or chest involvement

• Chest X-ray and CT scan - If your doctor suspects that your lungs may be affected by sarcoidosis, they will usually arrange a chest X-ray. They may also suggest a CT scan of your lungs and chest area.
• Lung function tests - You may be referred for lung function tests, or spirometry. A spirometer is a device which measures the amount of air that you can blow out. (See separate leaflet on 'Spirometry'.)
• Lung biopsy - To make a definite diagnosis of sarcoidosis, in most cases, a biopsy needs to be taken from one of the areas of inflammation (granulomas). In the lungs, this is usually carried out by passing a small telescope via the nose, down the trachea (windpipe) and into the lungs. The procedure is known as a bronchoscopy. A sample of tissue is taken from the lungs and is sent to the laboratory. The inflammation of sarcoidosis has a characteristic appearance when it is examined under a microscope.

Tests to look for heart involvement

• ECG - If your doctor suspects that your heart may be affected by sarcoidosis, they may arrange an electrocardiogram or 'ECG'. An ECG records the electrical activity of the heart and shows if there are any problems with this. Your doctor may also suggest an exercise ECG which records the electrical activity of your heart whilst you exercise. (See separate leaflets on 'Electrocardiogram (ECG)' and 'Electrocardiogram (ECG) - Exercise'.)
• Echocardiogram - You may be referred for an echocardiogram (an ultrasound scan of your heart). This can show if the heart is enlarged or affected by sarcoidosis. Sometimes, your doctor may suggest more detailed scans to look at your heart. (See separate leaflet on 'Echocardiogram'.)

Tests to look for eye involvement

Your doctor may refer you for a detailed examination of your eyes by an eye specialist, even if you do not have any specific eye symptoms. This is because sarcoidosis involving the eyes can seriously affect the vision if it is not treated quickly. The examination will usually involve the specialist using a slit-lamp (a special microscope) to examine your eyes.

Other tests

• Blood tests - Your doctor may also suggest some blood tests to look for signs of inflammation. They may check the level of calcium in your blood as this can be raised in sarcoidosis. They may also check the levels of an enzyme (a protein) in your blood known as angiotensin-converting enzyme (ACE). In about three quarters of people with sarcoidosis, the levels of this enzyme are raised. Sometimes, doctors use repeated measurements of ACE levels to monitor the response to treatment in sarcoidosis.
• Biopsy - Your doctor may also suggest that they take a biopsy (a sample) from any other area of your body affected by the sarcoidosis, for example your skin or a lymph gland. Like with the biopsy from the lung, the sample of tissue is sent to the laboratory. The inflammation of sarcoidosis has a characteristic appearance when it is examined under a microscope.
• Other investigations - Your doctor may refer you for other investigations depending on your symptoms. For example, if you have pins and needles, headaches or numbness, suggesting that sarcoidosis may be affecting your nervous system, they may refer you for a CT or MRI scan of the brain.

What is the treatment for sarcoidosis?

More than three-quarters of people with sarcoidosis do not need any specific treatment because their symptoms are not severe. They may just need to take nonsteroidal anti-inflammatory drugs, such as ibuprofen, to ease general symptoms such as joint pains.

If treatment is needed for sarcoidosis, the aim of treatment is to reduce the inflammation and therefore the symptoms that it causes.

Steroids tablets

The main treatment for sarcoidosis is usually with steroid tablets taken by mouth. The steroids help to reduce the inflammation. Prednisolone is usually used and generally needs to be taken daily initially. Treatment may be needed for up to six months. Sometimes longer courses of steroid treatment are needed. You are more likely to need treatment with steroid tablets if sarcoidosis is affecting your nervous system, heart or eyes, or if you have high calcium levels in your blood or severe breathing/lung symptoms.

Sometimes, steroid tablets may not be effective or may cause side effects. Side effects can include:

• An increased risk of infection.
• Thinning of the skin.
• Thinning of the bones (osteoporosis).
• Difficulty sleeping and mood changes.
• Easy bruising.
• Weight gain.
• High blood pressure.
• An increased risk of developing diabetes.

Steroid drops or ointments

Steroid drops or ointments are sometimes used for sarcoidosis affecting the eyes.

Other drug treatments

If steroid tablets are causing side effects, or are ineffective, there are some other drugs that can be used as alternatives. These are broadly known as cytotoxic or immunosuppressive drugs. They include drugs such as methotrexate, azathioprine and cyclosporin. Infliximab, thalidomide and tetracyclines have also been used in the treatment of sarcoidosis as well as the anti-malarial agent chloroquine.

These drugs may be used alone (if steroids are not working) or may be used in combination with steroids to reduce the dose of steroid drugs needed. Each of the drugs has different possible side-effects. Some side-effects can be serious. These are rare and include damage to the liver and blood producing cells. Therefore, it is usual to have regular tests - usually blood tests - whilst you take some of these drugs. The tests look for possible side-effects before they become serious. You should ask your specialist to discuss the side effects of any medication that you are prescribed in detail.

Surgery and non-drug treatment

Very rarely, sarcoidosis can cause severe scarring to the lungs. One of the options for treatment if this occurs is lung transplantation. Heart transplantation has also been used in rare cases where sarcoidosis severely affects the heart. Occasionally, people with sarcoidosis that is affecting the heart may need a pacemaker to help control the rhythm of the heart.

Will I need any follow-up or monitoring?

Generally, if you have sarcoidosis, you are seen regularly by a specialist in an outpatient clinic. The specialist that you see will depend on which area of the body the sarcoidosis is affecting. For example, it is likely that you will see a respiratory (lung) specialist if the sarcoidosis is affecting your lungs and an ophthalmology (eye) specialist if it is affecting your eyes. You may need to see more than one specialist.

At each follow-up appointment your doctor may ask you questions about any symptoms that you have, they may arrange a chest X-ray and some lung function tests. They may arrange examination of your eyes. They may also suggest other tests depending on which part of your body is affected by the sarcoidosis.

What is the outlook (prognosis) for sarcoidosis?

Up to two thirds of people with sarcoidosis do not need any specific treatment and the sarcoidosis will spontaneously improve over the following two to five years. In about one third of people, sarcoidosis becomes chronic, or long-term and does require treatment. A minority of people with sarcoidosis can be severely affected and may die. This is usually due to severe involvement of the lungs and respiratory (lung) failure.

The outlook is worse if sarcoidosis affects areas of the body outside the lungs, particularly if it affects the heart or the nerves. People who develop sarcoidosis quickly, over a few weeks, tend to have a better outlook. As do those who develop erythema nodosum, or those who just have swollen lymph glands seen on their chest X-ray and no real breathing or chest symptoms.

Further help and advice

Sarcoidosis and Interstitial Lung Association (SILA)

Chest Clinic Office, 2nd Floor Admin Block, King's College Hospital, Denmark Hill, London, SE5 9RS.
Contact by post or via their website: www.sila.org.uk
Information and support activities for sufferers.

British Lung Foundation

73-75 Goswell Road, London EC1V 7ER
Telephone: 08458 50 50 20 Web: www.lunguk.org
Offers support for everyone affected by lung disease. Provides information about sarcoidosis and other lung diseases.

British Association of Dermatologists

Willan House, 4 Fitzroy Square, London, W1T 5HQ.
Telephone: 0207 383 0266 Web: www.bad.org.uk
See their patient information section on their website which includes information about sarcoidosis.