Systemic sclerosis (scleroderma)

An autoimmune connective tissue disease, systemic sclerosis harms the body in two separate ways. When the immune system mistakes the body's own tissues for a threat, the tiny blood vessels are damaged and narrowed, and cells called fibroblasts are driven to make more collagen than the body needs. Injury to the vessels on the one hand, scarring (fibrosis) on the other: between them these two processes account for the tightening of the skin and for the effects on the circulation and the internal organs.

Why the immune system behaves this way is not fully understood. Genes are thought to have a hand in it, and the risk may be higher when a close relative has the condition. Adults, and women in particular, are the people in whom it is most often diagnosed, and Raynaud's phenomenon is frequently its first sign. The connective tissue diseases are the wider family to which it belongs.

More than one body system can be involved. The features people notice include:

• The skin becoming thicker or tighter, the fingers and hands often first
• Very commonly, fingers whose colour changes in the cold (Raynaud's phenomenon)
• Joint pain and stiffness
• Heartburn, difficulty swallowing and other digestive symptoms
• Involvement of the lungs (interstitial lung disease), or of other organs, in a proportion of people

Because early Raynaud's and the first skin changes are easily overlooked, it takes specialist assessment to reach an accurate picture and to judge whether other systems need monitoring; the raw material is what you report, what the skin and the circulation show on careful examination, what the antibody tests find, and whether any organ is involved. Nailfold capillaroscopy, a magnified view of the small vessels where the nail meets the skin, is part of that examination.

For joints that are involved, ultrasound helps to show how much inflammation there is. Point-of-care ultrasound is part of the consultation with Dr Borukhson; the ultrasound clinic page goes into what the scan involves.

There is no one treatment for systemic sclerosis. Care goes to the features each person has: protecting the circulation, managing the skin and joint symptoms, dealing with digestive problems, and monitoring for organ involvement and treating it when it is found. Where the skin is thickening quickly or the lungs are involved, a medicine that damps down the immune system is used, mycophenolate most often, with methotrexate an alternative for the skin and, at a specialist centre, rituximab as another option for the lungs or tocilizumab for early, fast-moving skin disease; these raise the risk of infection, which is one reason vaccinations are kept up to date. Steroids are kept to low doses, because in systemic sclerosis a high dose can bring on a scleroderma renal crisis, the kidney emergency named in the 999 or A&E list below, and medicines that open up the blood vessels ease the Raynaud's, nifedipine first, with sildenafil where a finger ulcer needs help to heal. Each plan is the person's own, comes up for regular review, and brings in other specialists where it should.

Monitoring is a regular part of that care: the lungs are checked at the outset with a CT scan and breathing tests, and screening for pulmonary hypertension shows why it continues. Some people with systemic sclerosis develop pulmonary hypertension, which is raised pressure in the blood vessels of the lungs. There are effective treatments, which is why finding it early pays. Screening is offered every year; it usually includes an ultrasound scan of the heart (an echocardiogram) and breathing tests (lung function tests), and it is done so that change is spotted in good time.

When systemic sclerosis reaches the skin, the circulation and the internal organs alike, one specialty is not always enough. 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.

Alongside the treatment plan, everyday care keeps you comfortable:

• The circulation needs warmth: hand warmers, layers and gloves all help, and so does giving up smoking, since smoking tightens the small blood vessels
• Care for the skin: regular moisturiser, plus gentle exercises for the hands and fingers, help to keep it supple and the joints mobile
• Digestive symptoms are often eased by three habits: little and often at mealtimes, no lying down straight after eating, and a bed with its head end raised
• Balance rest with activity, and keep up gentle exercise as far as you can manage

How the condition runs differs a great deal from one person to another, and many people stay well for years. Regular follow-up and screening are what allow care to keep pace with any change, so keep them up. How you are coping, the emotional side included, belongs in the conversation too. Plan any pregnancy with your team, for a settled phase of the condition and because some of the medicines have to be changed beforehand; our guide to arthritis, autoimmune conditions and pregnancy goes into the detail.

Most changes will keep until a routine review; a few will not.

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, though fingers or toes that change colour in the cold, as they do in Raynaud's, are not what is meant; 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
• Choking that will not clear, or breathing that is failing
• A blackout, since the heart or the blood vessels of the lungs can be behind it
• A sudden severe headache, confusion or a seizure, particularly with a sharp rise in blood pressure, which can be a scleroderma renal crisis
• 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
• An eye that suddenly and completely loses its sight
• 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, though fingers or toes that change colour in the cold, as they do in Raynaud's, are not what is meant
• 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
• Thoughts of harming yourself or ending your life, which steroids can bring on

Any of these needs an assessment that is urgent, on the same day, from your GP, your rheumatology 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
• A finger or toe that turns very painful, cold, dusky or numb and does not recover on warming, since the blood supply may be critically low
• A sore or ulcer on a finger or toe that is getting more painful, red or discharging, since an infection there can reach the deeper tissue and the bone, and needs treating without delay
• New chest pain, new palpitations, or breathlessness that is new or getting worse, which can mean the heart or the lungs are affected; 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 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; 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
• Swallowing that is newly difficult or has got harder over days, or coughing or choking on food or drink, since a new swallowing problem needs checking without delay, and food or drink that goes down the wrong way can lead to chest infections
• Marked swelling of the face or ankles, or frothy or bloody urine, since the heart or the kidneys can be behind them; the ankle swelling the circulation medicines can cause is not the same sign
• Passing much less urine than usual, or none at all, or a blood pressure reading far above your usual, both possible signs of a kidney problem
• 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
• 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; 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

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. A new sore or ulcer on a finger or toe, or one that is not healing, and, outside pregnancy, a fever that persists with no explanation, in someone not on immunosuppressant, biologic or steroid treatment, are reasons to get medical advice promptly, from your GP or your rheumatology team. Skin tightening that is spreading fast, swallowing that has slowly got harder, or unexplained loss of weight are reasons to ask your rheumatology team for a review sooner than the routine one. If you cannot tell how urgent something is, asking is never a mistake.

Early recognition and continuing, coordinated care serve systemic sclerosis best, not least because they catch any organ involvement in time. New Raynaud's together with tightening skin, or with other symptoms, is a good reason to seek a specialist review.

What confirms a diagnosis of systemic sclerosis?

No single test confirms it. The diagnosis comes from putting together your symptoms, a close examination of the skin and the circulation, and blood tests for particular antibodies, with checks on the internal organs added where they are needed, since the condition is not confined to the skin. Raynaud's in its early days and the first changes in the skin are easily overlooked, so a specialist review has a real part to play, helping to build an accurate picture and to decide which monitoring is worth doing.

Can systemic sclerosis be cured?

Not cured, and not something that simply passes: it is a long-term condition. It varies widely between people, though, and with the right care many are well supported. Treatment concentrates on the particular features you have, whether that means protecting the circulation or easing skin, joint and digestive symptoms, and the plan is reviewed regularly so that it is never left behind by a change in the condition.

How serious is it, and what monitoring will I have?

For many it can be managed well; for some it involves internal organs, the lungs among them, and that is the reason monitoring continues. Screening for raised pressure in the blood vessels of the lungs is a good example. Every year you are offered an ultrasound scan of the heart and breathing tests, so that any change shows up early. Effective treatments exist, and the earlier organ involvement is found, the better it can be dealt with.

Why is specialist care so important in systemic sclerosis?

Because the skin, the circulation and the internal organs may all need attention at once, the care often calls for several kinds of expertise, and a specialist is the person to hold them together. Dr Borukhson's base is a major tertiary centre, so consultant colleagues in other specialties are readily available to her, and a complex case reaches the wider team promptly. Point-of-care ultrasound is part of the consultation with Dr Borukhson, which means inflamed joints can be assessed while you are there.