Sarcoidosis

In sarcoidosis, the immune system gathers inflammatory cells into tiny clusters, called granulomas, which can form in one organ or in several. Wherever those pockets of inflammation settle, they are what cause the symptoms. What sets them off is still unclear. The current view is that the immune system over-reacts, possibly to something in the environment, in a person who is genetically predisposed to it, but no single cause has been found. It is not contagious: it does not spread between people. A predisposition is not the same as a condition passed from parent to child: while it occasionally appears in more than one person in a family, nothing shows it to be inherited.

It can start at any age, and is commonest in the thirties and forties. It affects both sexes, women a little more often than men, and occurs across every ethnic background, although people of African or African-Caribbean heritage, and people of Scandinavian descent, are affected more often. Something worth knowing from the start is that in many people it goes quiet without treatment, often within a few years.

How sarcoidosis feels differs widely between people: the organs it has reached, and how active the inflammation is, set the symptoms. At one end are people with no symptoms whose sarcoidosis is picked up on a routine chest X-ray; at the other, people who feel generally unwell for as long as the inflammation is active. The general symptoms most often reported include:

• Tiredness, sometimes heavy, and often the hardest part to bear
• Night sweats, a mild fever or just feeling run down
• Aching, or weight coming off without trying

The rest depends on which organs the inflammation has settled in, and the next section goes through them in turn.

The lungs and lymph glands come first by a long way: about 9 in 10 people have involvement there. The result may be a dry cough that stays, breathlessness or a tight feeling across the chest, yet many people have scan changes and little or nothing to feel. A smaller number are left with scarring of the lung tissue when the inflammation has run on for a long time; how that is watched and managed is the subject of our guide to interstitial lung disease.

The skin may show rashes, small raised lumps or patches where the colour has changed.

The eyes are a further possible site, and they need watching. Uveitis, inflammation inside the eye, is the most common eye problem, and it can threaten sight if it goes untreated. An eye that is red, painful or hurt by light, or sight that has just begun to blur, needs an eye casualty or urgent eye clinic the same day, and an eye that goes suddenly and completely blind is a 999 or A&E emergency; in pregnancy, any change in sight, blurring or flashing lights among them, is also for your midwife or maternity unit straight away, since it can be a sign of pre-eclampsia. The eye inflammation that goes with rheumatic conditions, and why doctors treat it with such care, is explained in our uveitis guide.

The joints, muscles and bones are a further possible site. Where the joints are involved they can be painful and swollen; the ankles are a frequent place, and often both at once. Tender red lumps on the shins, swollen ankles and a few other features make up one well-recognised pattern, which tends to settle as time passes. Some people go on to a longer-lasting arthritis that involves other joints. Involvement of the muscles and bones is less common. Once joint involvement is recognised and seen as part of the wider picture, much of it is very manageable.

The nervous system is affected less often, in about 1 in 20 people, and with specialist care it is usually treatable.

The heart shows involvement in about 1 person in 50. It usually causes nothing you would notice, so new chest pain, new palpitations, or breathlessness that is new or getting worse need an assessment the same day, from your GP, your rheumatology or respiratory team, or NHS 111 (in pregnancy, breathlessness that comes on suddenly, or when you lie down, or with dizziness, is for your midwife or maternity unit straight away); severe difficulty breathing (gasping, choking or no breath to talk), palpitations going on now that will not settle, or with chest pain, breathlessness, faintness or a faint alongside them, a blackout, or chest pain that is crushing, tight or like a pressure, that spreads to an arm, the jaw, the neck, the stomach or the back, that comes with breathlessness, sweating, feeling sick or feeling light-headed, or that came on suddenly and does not go away, is a 999 or A&E emergency, as the first list under When to seek help says. A finding on examination is followed up promptly. When the heart is involved, a cardiologist joins in your care while the sarcoidosis itself is treated. For the wider picture of how inflammatory conditions affect the heart, see our guide to inflammation and your heart.

The diagnosis is assembled from the symptom pattern, an examination, blood tests and imaging such as a chest X-ray or CT scan, sometimes with a small sample of tissue (a biopsy), and often in step with the other specialties looking after you. Seeing the separate threads as parts of a single condition matters, because that is what ties the picture together and shapes the treatment.

Where a joint is affected, ultrasound can show how inflamed it is. Point-of-care ultrasound is part of the consultation with Dr Borukhson, which often means an affected joint can be scanned on the spot; how the scan works is on the ultrasound clinic page.

Around 6 in 10 people get better without any treatment, because the inflammation dies down by itself. Treatment, where it is called for, does two things: it settles the inflammation, and it protects the organs concerned.

When medicine is required, steroid tablets are usually what is tried first, and they often prove effective. If steroids alone are not enough, or the dose cannot come down without the inflammation returning, a steroid-sparing medicine that calms the immune system, such as methotrexate, may be introduced to hold the steroid dose as low as possible. For the small number whose disease does not answer to steroids or a medicine of that kind, or who cannot take them, a biologic, infliximab, can be the next step. The NHS in England funds it on the decision of a specialist team, under its own rules where the nervous system is involved. A single troublesome joint may respond to an ultrasound-guided injection. Any treatment is checked against what your other organs are receiving, so that one plan supports another instead of cutting across it, and nothing begins until you have agreed to it.

Sarcoidosis can be in several organs at the same time, so several specialties are often involved: respiratory medicine, rheumatology, ophthalmology and, if the heart is affected, cardiology. Dr Borukhson practises within a world-renowned tertiary centre, with ready access to consultant colleagues in the other specialties this condition may call on. Where it helps, she can bring those specialists in directly, and particularly complex cases can go to a multidisciplinary team meeting (MDT) with minimal delay. Whenever more than one kind of expertise is needed, the strands of your care can be drawn together and decisions reached promptly.

Much of what sarcoidosis brings is manageable, and once the inflammation settles many people simply get on with their normal lives. It is easier with a few steady habits:

• Keep your appointments, because sarcoidosis can shift over time and regular review is the way to keep track of it
• Report new symptoms anywhere in the body, because sarcoidosis does not always stay where it started
• Go to your eye checks, since eye inflammation is sometimes silent at first
• Should steroids be prescribed, follow the instructions to the letter, and do not stop them abruptly
• Methotrexate, steroids and infliximab all lower your guard against infection, so keep your vaccinations up to date, and a fever, or contact with measles, chickenpox or shingles, while you are taking any of them is a same-day matter, as the next section says; our guide to infections and arthritis medicines has the detail

Fatigue is a common and genuine part of the condition. Be gentle with yourself, make sleep a priority, and accept help from those around you until things settle.

Planning a pregnancy is something to raise with your specialist early. For some women sarcoidosis quietens during pregnancy, though in a few it flares; closer monitoring is arranged where the lungs or the heart are much involved; methotrexate and mycophenolate are stopped well before conception, while steroids, azathioprine and hydroxychloroquine, a disease-modifying medicine (DMARD), can usually continue; and a flare can follow after the birth. Our guide to arthritis, autoimmune conditions and pregnancy has the medicines detail.

Most sarcoidosis symptoms can wait for a routine review; a few need quicker attention, and a small number cannot wait at all.

Treat any of these as a 999 or A&E emergency: call 999 and do not drive yourself to A&E.

• Severe illness with suspected sepsis: a high fever with shaking, confusion, rapid breathing, or feeling dramatically worse over hours
• With a fever or feeling unwell, a rash that does not fade when you press it, a stiff neck with eyes that cannot bear bright light, or skin, lips or tongue turning blue, grey, pale or blotchy, since these can be signs of meningitis or sepsis; on black or brown skin the rash and the change of colour may be easier to see on the palms of the hands or the soles of the feet
• Chest pain that is crushing, tight or like a pressure, that spreads to an arm, the jaw, the neck, the stomach or the back, that comes with breathlessness, sweating, feeling sick or feeling light-headed, or that came on suddenly and does not go away
• Breathlessness that is severe, with gasping, choking or no breath to get words out; or coughing up blood
• Palpitations happening now that do not stop, or that come with chest pain, breathlessness, feeling faint or fainting, since a heart whose muscle or rhythm is affected has to be checked at once
• A blackout, since the heart's rhythm can be disturbed when sarcoidosis reaches it
• A rash that spreads across the body, skin that blisters or peels, or lips, mouth or eyes that turn sore or swollen, since this can be a severe reaction to a medicine, such as Stevens-Johnson syndrome, which needs treating in hospital straight away
• Sudden weakness or numbness on one side, a drooping face or difficulty speaking, a sudden severe headache, sudden confusion or a seizure, or sudden loss of vision, any of which can be a stroke, even if it stops after a short time, and in sarcoidosis can also mean the nervous system is involved
• An eye that suddenly and completely loses its sight
• Vomiting that will not let your tablets stay down, or, during an illness or after an injury, becoming very drowsy or confused, or fainting, after more than a few weeks on steroid tablets, or repeated courses or injections in the past year, since your body may be running short of cortisol and the steroid may need to be given by injection; have your NHS Steroid Emergency Card ready
• Sudden severe pain in the abdomen or back, since the pancreas can react to prednisolone
• Lips, mouth, throat or tongue that suddenly swell, a throat that feels tight, very fast breathing or a struggle to breathe or to swallow, skin, tongue or lips turning blue, grey or pale (on black or brown skin this may be easier to see on the palms of the hands or the soles of the feet), becoming suddenly very confused, drowsy or dizzy, or fainting and not being able to be woken, since this can be a severe allergic reaction, anaphylaxis, which can follow a dose of any medicine
• Vomiting blood, or bleeding from the back passage that is heavy or will not stop, most of all with faintness, confusion or pain in the abdomen, or vomit that is black or dark brown, since a stomach ulcer on prednisolone can bleed
• Serious harm you have already done to yourself, such as an overdose, or a feeling that you may be about to harm yourself, since you need help to keep you safe now

Any of these needs an assessment that is urgent, on the same day, from your GP, your rheumatology or respiratory team, or NHS 111:

• A fever, or feeling generally unwell, on immunosuppressant, biologic or steroid treatment, since an infection has to be treated early
• A joint that is hot and swollen, with a fever or feeling unwell, since an infected joint has to be ruled out at once, at A&E or through NHS 111
• A joint that has become hot and very swollen suddenly, or is worsening quickly, even without a fever, since an infected joint does not always announce itself with one; a joint that will take no weight at all, or that cannot be moved, is a 999 or A&E emergency, whether or not there is a fever
• New chest pain, new palpitations, or breathlessness that is new or getting worse; palpitations happening now that do not stop, or that come with chest pain, breathlessness, feeling faint or fainting, belong to the first list; in pregnancy, breathlessness that comes on suddenly, or when you lie down, or with dizziness, is for your midwife or maternity unit straight away, as the pregnancy line below says
• A persistent dry cough with a fever, with new breathlessness, or that is worsening over hours to days
• A headache that is new and persistent, or that keeps getting worse, with none of the signs above, since sarcoidosis can inflame the lining of the brain, and a headache can be the first sign of that
• A new red, painful eye, or sight that has blurred, dimmed or changed, which needs an eye casualty or urgent eye clinic the same day, as does an eye that light hurts, since uveitis can threaten sight and treating it early protects it; in pregnancy, any change in sight, blurring or flashing lights among them, is also for your midwife or maternity unit straight away, as the pregnancy line below says, since it can be a sign of pre-eclampsia
• Thoughts of ending your life or of hurting yourself, or harm you have done to yourself that is not serious, short of the line in the first list, which steroids can bring on: ask your GP to see you that day or call NHS 111, and Samaritans answer at any hour on 116 123
• A marked change in mood or behaviour, confusion, or seeing or hearing things that are not there, on steroid treatment, since prednisolone can do this, the more so the higher the dose; confusion that comes on suddenly is a 999 or A&E emergency, as the first list says, and so, after more than a few weeks on steroid tablets, or repeated courses or injections in the past year, is becoming very drowsy or confused during an illness or after an injury
• Unusual thirst or hunger, passing urine more often, or feeling sleepy or confused, on steroids, or swelling of the arms or legs, bruising or bleeding that is not normal, black or dark red stools, severe stomach pain, severe back pain, a severe upset stomach, being sick, or very bad dizziness, since each can be a steroid effect that needs checking without delay; pain in the abdomen or back that comes on suddenly and severely is a 999 or A&E emergency, as the first list says, and so, after more than a few weeks on steroid tablets, or repeated courses or injections in the past year, is vomiting that will not let your tablets stay down, or, during an illness or after an injury, becoming very drowsy or confused, or fainting; in pregnancy, bleeding that is not normal, and stomach pain that is severe, belong to the pregnancy line below
• Contact with measles, chickenpox or shingles, since these infections can be severe on steroids and a medicine to protect you may be needed
• Being near someone with measles, chickenpox or shingles, while you take a medicine that weakens the immune system, since measles and chickenpox can be dangerous when the immune system is weakened, and you can catch chickenpox from someone with shingles if you have never had chickenpox; NHS 111 can tell you what to do that day
• In pregnancy, any bleeding, stomach pain that is severe or does not go away after a rest, reduced baby movements, a severe headache or visual disturbance, sudden swelling of the face, hands, legs or feet, or breathlessness that comes on suddenly, or when you lie down, or with dizziness: contact your midwife or maternity unit straight away, whatever the time; bleeding that is heavy, or that comes with severe pain in the tummy, pain in the shoulder, or feeling sick, faint or dizzy, or passing out, is a 999 or A&E emergency: call 999 and do not drive yourself to A&E; pain in the abdomen or back that comes on suddenly and severely is a 999 or A&E emergency, as the first list says
• A high temperature in pregnancy, whatever medicines you are taking, since a fever can be a sign of an infection that needs checking; your midwife or maternity unit can advise
• In pregnancy, contact with someone who has an illness with a rash, measles, chickenpox and shingles among them, whatever medicines you are taking, since some of these infections can harm an unborn baby: ring your midwife or maternity unit, or your GP, straight away

A persistent dry cough on its own, or breathlessness that has drifted slowly, over weeks or months, is something to tell your team promptly, without waiting for a routine slot. Outside pregnancy, a fever that persists with no explanation, in someone not on immunosuppressant, biologic or steroid treatment, is also a reason to get medical advice promptly, from your GP, or your rheumatology or respiratory team, since a fever can be the sarcoidosis itself or an infection that needs finding.

Joint pain or swelling that is neither hot nor changing quickly, and any new symptom that puzzles you, are matters for a routine review with your team. If you take methotrexate, another DMARD, a steroid or a biologic, the warning signs that belong to each are set out in our guides to methotrexate, DMARDs, steroids and biologics and JAK inhibitors. If you cannot tell how urgent something is, asking is never a mistake.

Sarcoidosis is often mild and clears on its own, but because it can reach several organs, it is best assessed as a whole rather than one organ at a time. What a specialist review can do is establish what is going on, order whatever tests are needed, call on other specialties where they help, and settle on a plan that sits comfortably alongside your other care. New symptoms in someone who already has sarcoidosis, or unexplained symptoms that could be sarcoidosis, are good reasons to arrange a specialist assessment.

What is sarcoidosis, and is it infectious or inherited?

In sarcoidosis the immune system overshoots, and the result is small lumps of inflammation, granulomas, which can appear in a single organ or in several. Why it starts is not fully known, but it is thought to be an immune reaction, not something you have caught or brought on yourself. Nobody catches it from anybody else, and although it occasionally turns up in more than one member of a family, there is no evidence that it is inherited. Many have a mild form that fades with time, often with no treatment at all.

Which organs does sarcoidosis reach?

No two people have quite the same sarcoidosis. In most people, the great majority, it sits in the chest, in the lungs and the lymph glands, which is why a cough or breathlessness is so often the first sign. Skin, eyes and joints can be involved too; the nervous system and the heart, less often. A routine chest X-ray is sometimes how it comes to light in someone who has had no symptoms at all. Where the inflammation has landed decides the picture, so the assessment takes in all of you and not just the symptom that brought you.

Does sarcoidosis always need treating, and with what?

Often not. Roughly six in ten, a majority, need no medicine: the inflammation dies down of its own accord, though the occasional review remains worthwhile. When treatment is called for, steroid tablets are the usual first step, and they often suffice. If steroids do not settle things fully, or the dose cannot be reduced without symptoms returning, an additional medicine that calms the immune system, such as methotrexate, can be added so that less steroid is needed. For the few whose disease resists those, a biologic called infliximab can follow, funded by the NHS in England when a specialist team agrees. Whatever is chosen is weighed alongside the care you receive for other organs, so that no two plans pull in opposite directions.

With sarcoidosis, what eye or heart symptoms should worry me?

With the eyes, treat any sudden redness, pain, sensitivity to light or new blurring as urgent and have it checked the same day at an eye casualty or urgent eye clinic (in pregnancy, any change in sight, blurring or flashing lights among them, is also for your midwife or maternity unit straight away, since it can be a sign of pre-eclampsia), and treat an eye that suddenly loses its sight altogether as a 999 or A&E emergency: sarcoidosis can inflame the inside of the eye (uveitis), and without treatment that can damage sight. Heart involvement is uncommon and usually causes nothing you would notice, which is why new palpitations, new or worsening breathlessness or new chest pain need an assessment the same day, from your GP, your rheumatology or respiratory team, or NHS 111 (in pregnancy, breathlessness that comes on suddenly, or when you lie down, or with dizziness, is for your midwife or maternity unit straight away), while severe breathlessness that leaves you gasping or choking, or too short of breath to talk, palpitations that are happening now and will not stop, or that bring chest pain, breathlessness, faintness or a faint with them, a blackout, or chest pain that is crushing, tight or like a pressure, that spreads to an arm, the jaw, the neck, the stomach or the back, that comes with breathlessness, sweating, feeling sick or feeling light-headed, or that came on suddenly and does not go away, is a 999 or A&E emergency. Call 999 and do not drive yourself to A&E. If the heart is affected, a cardiologist shares your care alongside your sarcoidosis treatment. The two lists under When to seek help give every sign in full.

What is a rheumatologist's role once sarcoidosis is diagnosed?

Sarcoidosis often reaches more than one part of the body, and what a rheumatologist adds is an assessment of the joints and muscles, a reading of the whole picture and a working link to the other specialties involved. Point-of-care ultrasound is part of the consultation with Dr Borukhson, so joints in question can often be checked at that same appointment. If the care calls for several specialists, she can bring them in herself, and a complicated case can reach a multidisciplinary team meeting quickly.