This is your bedtime reading for the next few nights. I know it seems like a lot, but if you’re anything like me, the more you know, the calmer you feel. Knowledge goes a long way to help you feel more relaxed. Well, that, and a really good doctor!

Mandy

morethanscleroderma.com

Understandingscleroderma

Understanding scleroderma

Scleroderma (also known as systemic sclerosis) may be a complicated disease to understand. But it’s worth taking the time to get your head

around it. The more you know, the more you can play an active part in your monitoring and treatment.

Current scientific knowledge, latest news, and real-life experiences have been summarised in this booklet to help you learn about your condition.

You will also find more information and handy resources at morethanscleroderma.com

Contents

What is scleroderma and why are there two names? ......................... 3

What is happening in my body? ............. 5

Why have I got scleroderma? ..................9

What symptoms could I experience? ......................................................11

Mental health and emotional wellbeing .....................................21

How will my symptoms be monitored? .................................................23

How are my symptoms managed? ......33

What could happen if I have scleroderma? .....................................35

Frequently asked questions ....................37

Positive actions you can take .................38

3

What is scleroderma and why are there two names?

Scleroderma is part of a family of diseases that affect connective tissue.1,2 Connective tissue is in almost every part of your body.

It is what helps to hold your body together. It supports, connects and separates different parts of your body. Because scleroderma affects the connective tissue, symptoms can occur in any part of the body, including the skin, muscles, blood vessels and internal organs.2

Scleroderma is usually characterised by hardening of the skin.1

In medical definitions, different words are used to describe this family of diseases and they all have slightly different meanings:

• Scleroderma: used to describe the sclerosis (hardening) of the skin (derma), specifically. However, scleroderma is the term that is often used to refer to all types of sclerosis; both the skin changes and the changes in other tissues and organs in the body (systemic sclerosis)

• Systemic: used when a disease affects a number of different tissues and organs in the body

• Sclerosis: used to describe the hardening of tissues in the body

To use the words correctly, it can help to understand how they relate to each other.

‘Scleroderma’ is roughly divided into two forms, ‘localised scleroderma’ (also called morphoea) and ‘systemic sclerosis’.1

Systemic sclerosis is then divided into four subtypes: limited cutaneous, diffuse cutaneous, sine scleroderma and overlap syndrome.3

The subtypes of systemic sclerosis help doctors get a better picture of the symptoms and problems you may experience, and to develop a treatment plan you might benefit from.

Sclerodermacombines the Greek words ‘sclero’ (hard) and ‘derma’ (skin)

Wha

t is

scle

rode

rma?

4

The scleroderma family of diseases 1,3

SclerodermaRoughly divided into two forms

depending on where in the body is aected

MorphoeaNormally just aects the skin

Systemic sclerosisAects several organs in the body,

often including the skin,and is divided into four types

The forms of systemic sclerosis

Sine sclerodermaMeans that there is systemic sclerosis

involving other organs in the body, but no thickening of the skin.

Limited cutaneousCutaneous means skin and in limited

cutaneous systemic sclerosis, the areas of skin aected are limited to the hands,face, feet and forearms. Other organs in

the body are also aected.

Di�use cutaneousThe skin symptoms can aect any

area of the body. Other organs in the body are also aected.

Systemic sclerosis overlap syndrome

Means that there is one of the other three types of systemic sclerosis plus

another autoimmune disease like rheumatoid arthritis.

The terms scleroderma and systemic sclerosis are often both used to mean the type of scleroderma that affects several organs in the body, but the correct medical term is systemic sclerosis.1 For simplicity, we will be using ‘scleroderma’ to describe all forms of condition from this part of the booklet onwards.

Scleroderma is a rare disease.1,3 Across the European Union and the United States, a rare disease is defined as affecting fewer than 1 person in every 2,000.4,5

5

Connective tissue is like sponge cake with cells sitting in it like pieces of fruit. It’s made up of a mesh of fibres that support and hold cells

Collagen is one of the fibres that make up the mesh

Fibroblasts are one type of cell held within the mesh to help us heal, keep us healthy, repair damaged tissues and form scars.

Understanding connective tissue

Connective tissue is in almost every part of your body. It is what helps to hold your body together. It supports, connects and separates di�erent parts of your body.

2,6-9

What is happening in my body?

Wha

t is

happ

enin

g?

1When you are injured, the body’s natural defence system (immune system) gets involved. The area then becomes inflamed

2The immune system signals to the fibroblasts to repair the damage

3Fibroblasts produce collagen and other substances to repair any damage to the connective tissue; this forms a scar

4The damage is repaired. The scar will soften over time, as the normal surrounding tissues recover. In fibrosis, this normal softening of the scar does not occur enough

When a part of your body gets damaged (for example when you are injured), it sets o  a natural healing cycle to repair the damage

Your immune system has a memory9

Your immune system protects you against threats from bacteria, viruses and danger from damage to tissues. Your body’s immediate response to a threat is to produce inflammation. Inflammation is a normal response from your body’s defences. It surrounds, contains and then gets rid of whatever is causing the problem (infection, splinter, thorn etc).

Once the danger has been removed, your immune system produces special substances called antibodies. These are programmed to recognise bacteria, viruses or other danger you have already been exposed to. Antibodies find them and let the immune system know, so that they can deal with them more quickly.

Signal

Fibroblast

1

2

34

6

2,6-9

In systemic sclerosis, the immune system causes the natural healingprocess to go into overdrive and produce too much collagen 1

The immune system sends the wrong messages to the fibroblasts, telling them to produce lots of collagen. This is because it thinks your own cells are a danger and tries to defend your body against itself

2 Fibroblasts then produce too much collagen

3The extra, unneeded collagen, gathers to form thick and rigid areas like a scar

Extra scarring can make the problem worse. The scar tissue (fibrotic tissue) itself can cause damage, setting o� the inflammation, collagen, and scarring response; the cycle goes on and on

Fibrotic tissue is sti� and doesn’t work in the same way as normal tissue. Fibrosis and inflammation in the skin and other organs a�ect how they work and causes the symptoms of systemic sclerosis

Systemic sclerosis is an ‘autoimmune’ disease ‘Auto’ = self‘Immune’ = protection against

Signal

Fibroblast

1

3

2

2,6-9

7

9

Why have I got scleroderma?

There is no simple answer to this question. No one really knows why some people get scleroderma, while others don’t.6

We know that scleroderma is not an infection, like chicken pox or flu. You can’t catch scleroderma from someone else who has it.

We also know that genetics and genes may play a small part.1,2,6,10 If you have a close family member with scleroderma, you are at a very slightly higher risk of developing scleroderma than everyone else.2 But it is not a disease that you can pass directly to your children or inherit from your parents.2

It seems more likely that some people have a genetic ‘switch’ for scleroderma that is triggered by something. At the moment, most of the triggers are not known, but sometimes there is a clue.12

It’s likely that events which are very stressful on the body (like a physical injury, exposure to toxic chemicals, or mental stress) can alert your immune system and also change how your genes work. This could be the trigger for scleroderma in some people.6,7,11,12

I had two choices when I found

out I had scleroderma: to feel

miserable forever or be positive.

I chose to be positive. Life’s not a

party, but I’m happy.

Maria

Why

me?

11

What symptoms could I experience?

With so many different types of symptoms it can sometimes be hard to know which ones are important.

It is essential that you report all your symptoms to your doctor, no matter how insignificant they may seem.  

How scleroderma may affect you depends on a few things:

• The parts of your body affected

• How mild or severe the symptoms are

• How the symptoms change over time

My symptoms meant I had to

give up some things, but I’m picking

up other things I used to do, like

going back to records and listening

to more music.

Mike

Most patients start with just one or two symptoms, but they can appear in any order. They can be mild or more severe, and can change as time passes.2,13,14

It may look like there are a lot of symptoms. But you won’t necessarily get them all. People get different combinations of symptoms, and have different experiences and problems with those symptoms.6,15

It’s one of the reasons why it can be hard for doctors to recognise scleroderma early on.

Wha

t sy

mpt

oms

co

uld

I get

?

12

Skin symptoms

Nearly all people with scleroderma (more than 90%) develop some skin symptoms.3,6

These symptoms can include:

Skin thickening particularly on the joints of the fingers.3,17

Small red spots (called telangiectasia) in around 75% of people with scleroderma.6

These are little widened blood vessels, usually on the hands and face.

Tight or shiny skin on the face, arms, and legs. Tightened skin around the joints can prevent you from moving properly. These are known as contractures. You may also get itchy skin.3

Hard lumps (called calcinosis) in around 25% of people with scleroderma.6 These are a collection of calcium salts beneath the skin. They usually occur during the later stages of the disease, on pressure areas or around joints.

I saw the rheumatologist

every couple of months.

During that time he kept looking

at my hands and pinching the

skin. Eventually he said, ‘I think

you’ve got scleroderma’.

Mandy

13

Hand symptoms

Many of the hand symptoms are linked to skin involvement, except for Raynaud’s phenomenon. This is linked to the tiny blood vessels in your hand affecting how blood circulates. Around 90% of people with scleroderma get Raynaud’s phenomenon.6,20 It’s one of the most common early symptoms.18

Symptoms in the hands include:

• Raynaud’s phenomenon occurs when your fingertips change colour (usually white to blue/purple, then to red), get very cold and sometimes hurt or feel numb.20 You may also develop red, swollen areas on the fingers and toes that are painful to touch (sometimes

called chilblains).21 These changes often happen in cold weather or when you are stressed. They are caused by spasming of small blood vessels in your fingertips. This reduces blood supply to the area.21 Keep an eye on the red, swollen areas to make sure the skin doesn’t open over them because they can become infected

• Puffy hands and fingers19

• Tightening and thickening of the skin on the fingers (called sclerodactyly). Sometimes this can make it hard to keep your hand flat. You may find your fingers don’t move as well as they should or that you have trouble holding objects18

• Ulcers or open sores occur in around 40% of people with scleroderma, particularly on their fingertips or toes.6 These may occur after minor injury or spontaneously due to poor blood supply.17 You should always see your doctor if you get an ulcer or open sore

on your fingers or toes, no matter how small or mild it may seem, to make sure it doesn’t get infected

• Pain or stiffness in the joints of your fingers15

Foot symptoms

• Raynaud’s phenomenon can affect your toes as well as your fingers 22

• Uncomfortable walking because of changes under the ball of your foot. Some people describe this as feeling as though they are walking on pebbles22

Hand and foot symptoms

14

Joint and muscle symptoms

A round 65% of people with scleroderma have problems with

their joints or muscles at some time.6

Joint symptoms can affect the big joints, like your knees, elbows or hips. Or they may affect the smaller joints, like the ones in your fingers and toes. Your muscles may also be involved, which can make it harder to move freely and stay active.

Joints may be painful because the skin becomes tight, making it more difficult to move. Pain might also be caused by inflammation occurring in or around the joint.1,3

Sometimes people with scleroderma also have other conditions, like rheumatoid arthritis, that makes their joints painful.3

Muscles can become weaker if you become less fit because you are doing less exercise.

Symptoms can include: 3,15,18

• Tight skin or swollen joints

• Joint pain or tenderness might also be caused by inflammation

• Other joint conditions can sometimes occur alongside systemic sclerosis, such as rheumatoid arthritis3

• Muscle fatigue and weakness or aching

I’ve had scleroderma since

I was about fourteen. I used to walk

to school and out of nowhere my hips,

knees and ankles would hurt.

Jessica

15

Lung problems

While most people with scleroderma get some fibrosis (thickening or scarring) in their lungs, only 13% to 16% develop severe symptoms.23,24 Up to half of people who will be affected experience symptoms within the first 3 years of the disease.13,23,25–27

It is important to find out whether your scleroderma is affecting your lungs as soon as possible so that your doctor can work out whether you need treatment and, if so, the best treatment for you.

There are two ways in which scleroderma might affect your lungs:28

1. Pulmonary arterial hypertension (or PAH) is a rare complication, affecting between 5 and 12% of people with scleroderma.29

It happens because fibrosis narrows the small blood vessels in the lungs. This causes the blood pressure to rise in the pulmonary artery (the big blood vessel that carries blood to the lungs), because it is trying to force blood through narrower blood vessels. The result is that less blood gets to the lungs, so less oxygen can get into the blood. The heart tries to fix the problem by making the right side of the heart work much harder.30

Symptoms of pulmonary arterial hypertension include:28,30

• Shortness of breath

• Feeling tired

• Dizziness

• Chest pain

• Swollen legs

Your doctor will be checking regularly to make sure you don’t have pulmonary arterial hypertension. If you do develop this, your doctor will help you manage it and will find the treatment that best suits you.

2. Lung fibrosis (also known as interstitial lung disease [or ILD]). This affects most people with scleroderma to some extent, but only between 13 and 16% of people will develop severe symptoms.23,24 This happens because the fibrosis and scarring affect the little air sacs in the lungs (the alveoli), making them stiff and less able to inflate and deflate. These little air sacs are responsible for transferring oxygen from the air we breathe into the blood and removing carbon dioxide from the blood to be breathed out. The scarring and stiffness prevent the lungs from doing this job effectively.31

16

Lung problems

It was only when I became ill

and needed oxygen that I realised

how scleroderma was affecting me.

I gave up work, but I have a dear

friend who retired shortly after me.

Having the time to do things we

want to do has been fantastic.”

Susan

Some people with lung fibrosis have mild respiratory symptoms that they may only notice when they really exert themselves. Others might experience more severe shortness of breath that affects their daily activities.15

Symptoms of lung fibrosis include:15,28,30

• Feeling very tired when going about your normal day

• Getting out of breath doing simple tasks like climbing stairs

• Difficulty taking deep breaths

• Dry cough that you can’t get rid of

• Feeling like your chest is tight

• Feeling dizzy

• Chest pain

Specialist doctors across a number of different countries recommend that lung function should be tested regularly, and at least annually, in people with scleroderma.16,32–37 This is so they can help to manage the symptoms as early as possible.

If you notice any symptoms, tell your doctor. The sooner you say something, the sooner you can do something about it.

17

Heart problems

Heart disease is more common as we get older, and it’s not surprising that people with scleroderma get the same heart conditions as everyone else. However,

there are some specific heart problems that can happen because of scleroderma.

They happen for several reasons, but usually because fibrosis (scarring) can affect the muscle of the heart, the valves, or structures in and around the heart that help it work properly.38

Your doctor or nurse will check your heart regularly to look for problems. Make sure you attend your appointments and tell your doctor if you have had any problems.

The symptoms of heart problems are varied and can be hard to spot. There may be no symptoms at all.38

Symptoms of heart conditions can include:38

• Chest pain

• Swollen legs

• Breathlessness

• Feeling like your heart is pounding, fluttering or beating irregularly (palpitations)

• Light headedness

• Fainting

• Tiredness (fatigue)

Your doctor will check your heart regularly to look for problems and make sure nothing is missed. Make sure you attend your appointments and tell your doctor if you have had any problems. Then they can be spotted and managed as quickly as possible.

18

Digestive system symptoms

Your digestive system includes many different organs in your body, such as your mouth, stomach, and intestines (gut). It is involved in lots of activity so

it’s not surprising that most people with scleroderma (around 90%) get some symptoms related to it.6,39 There are several different symptoms related to the digestive system, and they can differ from person to person.13,39

In scleroderma, fibrosis (scarring) makes the walls of the gut a bit thicker and the muscles don’t work as effectively. This affects the way food is digested and moved through your body and causes the different symptoms that people experience.6,13,15,39

Digestive system symptoms include:

• Heartburn or indigestion

• Changes in appetite

• Constipation

• Diarrhoea

• Feeling sick (called nausea)

• Finding it hard to swallow

I was told I had scleroderma on

my intestine. But I still enjoy going

out for coffee and visiting restaurants.

I don’t eat as much as I used to, but

it’s great being out with my wife

and family.

Mike

19

Just under half of people with scleroderma get some kidney problems.40

Scarring and fibrosis in the kidneys can reduce their ability to work properly, but in most cases, this won’t cause many symptoms. It’s usually not serious, but your doctor will monitor your kidneys regularly to make sure they’re working well.

A few people with systemic sclerosis (5–10%) experience a more serious issue, called renal crisis.6 It happens quickly and needs urgent treatment in hospital.

The symptoms of a renal crisis include:

• Headache

• Chest pain

• Tiredness

• Visual problems

• Breathlessness

• Seizures

• Feeling feverish or generally unwell

If you experience these symptoms, contact your doctor straight away. You may need urgent treatment.

If you’re at risk of renal crisis, you should regularly monitor your blood pressure. Your doctor will let you know if you’re at risk.

Kidney problems

Try and get as much information

as you can from your doctor. He or she

is the expert. Take notes and don’t be

afraid to ask.

Mike

20

Tiredness and fatigue

Over 90% of people with scleroderma experience severe tiredness (sometimes called fatigue). It is one of the most common symptoms.15

There are ways to manage the way fatigue affects you. Often, it’s about allowing yourself the time to rest. Planning and pacing your activities can help, so that you can still do what you want or need to do, but maybe over a slightly longer time, in shorter bursts, or with rest times in between.

It is important to tell your doctor if you have severe tiredness so that they can make sure the fatigue is not because of some other condition.

If I’ve spent two hours in the

garden, I come in and put my feet up

for a while to recuperate. You just

have to listen to your body.

Mandy

21

Mental health and emotional wellbeing

While not an actual symptom of scleroderma, some people find that the disease has an impact on their mental and emotional health.16

Some people find scleroderma changes how they see themselves, or how others see or treat them. It can affect the way you do your job or the role you play in your family.

Adjusting to life with a new set of limits can be hard. This disease of unknowns can create uncertainty or sometimes loneliness.

Whatever your situation, whatever you’re feeling, you don’t have to go through it alone. Sometimes, one of the hardest things to do is to ask for help.

Help can come from anywhere – your friends and family, your doctor or nurse, or a local support group.

Make sure you speak to someone if you’re finding things difficult.I’ve got an illness and I’m going to

fight it. I won’t beat it every day, but I’m

going to beat it most days.

Christina

23

How will my symptoms be monitored?

Your symptoms of scleroderma may change over time, so regular monitoring with your doctor is important.37

The type of specialist you see, and how often you see them, will depend on your symptoms and how your care is managed. People recently diagnosed with scleroderma will have check-ups every 3 to 6 months. They may then become less frequent over time (for example, every 6 to 12 months) if your doctor considers your symptoms to be well managed and unlikely to change very much.

It is important to spot any changes early. Symptoms can help predict the course of scleroderma.13,16,27,41

Serious skin problems, as well as kidney, heart and lung symptoms, may need particular attention.

Keep track of your symptoms

and any changes

Mon

itori

ng

24

Medical tests for scleroderma

There isn’t a specific test for diagnosing scleroderma. Using several tests can help to build a good picture.

They can give the doctor an idea of what’s happening.17

Here are some of the more commonly used tests that your doctor might use to diagnose or monitor scleroderma. Your doctor will decide which tests they need to do and when. It may be that the tests are not all done at the same time. But your doctor will let you know.

There are many other tests that you might be asked to have. Each test is important because it builds a picture of what’s happening in your body.

Your doctor will tell you when to expect your results. When you get them, it’s a good idea to ask for them to be explained to you. This can give you a better understanding of your own symptoms and disease.

Tests that are often used in scleroderma

Testing scleroderma

Imaging and scans

Nail blood vessel test

(Nailfold capillaroscopy)

Heart health tests

Skin examination

Lung health tests

Skin thickness

test

Blood and urine

tests

Blood pressure

test

25

Blood and urine tests

Looking at:

• Many things that your body uses or produces are carried around in your blood, or are passed out in your urine. These tests look at the levels of different chemicals, proteins, cells and so on

• Signs that your body’s immune system is active (inflammation, antibodies or auto-antibodies)

• Signs that some organs in your body aren’t working as well as they should

What to expect:

To get clear results, you may be asked to skip breakfast or avoid certain foods just before the test. You might be asked not to take your usual medication before your blood is collected. Your doctor or nurse will let you know.

You will usually have to collect urine in a small pot.

Understanding the results:

Blood tests are commonly used to assess what’s happening in the body and to see if your organs are working properly. There are many types of tests and some could be used by your doctor to exclude other causes of your symptoms.

Often, people with scleroderma have auto-antibodies in their blood. This can be a cause of inflammation.

• ‘Antibodies’: little proteins that form a key part of your body’s defence against bacteria and viruses. They search for and attach themselves to these invaders, helping your immune system find them and get rid of them

• ‘Auto-antibodies’: antibodies that target your body’s own cells, instead of invaders

There are many forms of auto-antibodies. The most common in people with scleroderma are called:17,19

• Anti-topoisomerase I (or Scl-70)

• Anti-centromere (or ACA)

• Anti-RNA polymerase III

These are known as anti-nuclear antibodies, or ANAs. ANAs are markers that help with diagnosis. They may also be useful to predict the risk of certain scleroderma complications.6,13,17,26,27

26

Nail blood vessel test (nailfold capillaroscopy)

Looking at:

The health of the little blood vessels.

What to expect:

Your doctor or nurse will use a microscope or a small camera (sometimes a dermatoscope) to look at the skin at the bottom of your fingernails (your nailfold). This process of viewing these blood vessels (capillaries) is called nailfold capillaroscopy.

It usually takes place in a doctor’s office. It won’t be painful.

This test is sometimes used at diagnosis.18

Understanding the results:

The results will tell your doctor what the blood vessels in the rest of your body might be like. In scleroderma, they can be abnormally shaped and this can affect how your blood reaches areas of your body. It might be one of the reasons you experience blood flow problems, like Raynaud’s phenomenon.

27

Blood pressure test

Looking at:

The pressure of the blood in the main blood vessels that supply your body.

What to expect:

A band will be put around your upper arm. The doctor or nurse will then fill it full of air. This might feel a bit uncomfortable but it’s only temporary. The air will slowly be released and this will tell them your blood pressure. You may have had one of these tests before. It usually takes place in a doctor’s office.

You can also buy blood pressure monitors to use at home. These can help you monitor your own blood pressure in between medical appointments.

Understanding the results:

Blood pressure can be used to monitor your general health or determine if other diseases are causing your symptoms. Blood pressure comes in waves (with every heartbeat), so two numbers are recorded; one is the maximum pressure and the other is the minimum.42 They are written like this: 120/80 mmHg.

Normal blood pressure varies from person to person. Your doctor will be able to tell you what is normal for you.

If you’re monitoring your own blood pressure, check with your doctor if your numbers change by more than 10.

28

Skin examination

Looking at:

The health of your skin.

What to expect:

This test is sometimes used to assess your skin.18 Your doctor will ask questions about how you’re feeling and when you have the worst symptoms.

They will ask to touch your skin. They may also use a small microscope, called a dermatoscope, to look more closely.

Understanding the results:

This test is used to see if there could be other explanations for your skin symptoms. The doctor may perform additional tests if they have further concerns.

29

Upperarm

Upperarm

Anteriorchest

Abdomen

Forearm

Hand

Fingers

Thigh

Leg

Foot Foot

Leg

Thigh

Fingers

Hand

Face

UninvolvedMild thickeningModerate thickeningSevere thickening

Forearm

Skin thickness test

This is often called the modified Rodnan skin thickness score or mRSS.43

Looking at:

The thickness of your skin.

What to expect:

The doctor will feel the thickness of your skin at several areas of your body. Each area is then given a number that shows how thick it is. The higher the number, the thicker the skin is compared with average skin thickness.

Understanding the results:

The total score gives a measure of the extent and severity of your skin symptoms.

30

Heart health tests

Looking at:

• How well your heart is beating – its rhythm (electrocardiogram [or ECG])18,44

• The shape of your heart and how well it can pump your blood (echocardiogram [or echo])45

What to expect:

In most cases, you will be lying down for these tests.

For an electrocardiogram, the doctor/nurse will stick sensors to your chest and these will record the electrical signals from your heart.18,44

For an echocardiogram, the doctor/nurse will hold a device against your chest.45 It uses sound waves to create images of your heart as it moves. From these, the doctor can see the shape of your heart. They can also get an idea of how well the blood is moving through your heart.

Sometimes, longer term heart monitoring is also needed. Measurements are taken by a small portable device that you carry around with you. This can help to give your doctor a clear picture of your heart’s health and activity throughout the day and night.

The doctor/nurse might ask you to do a more specialised type of heart test, but they will tell you about this before the day. The test might take place at a specialist heart clinic.44,45

Understanding the results:

Heart health is not used to diagnose scleroderma, but the results can indicate if the heart is affected. It can also be used to exclude other diseases that might be causing your symptoms.

31

Lung health tests

These are also called lung function tests (LFTs) or pulmonary function tests (PFTs).

Looking at:

How well your lungs are working (how much air you can breathe in and out, how well, and how much oxygen gets from your lungs into your body).

What to expect:

There are a few different types of lung function tests. These will usually involve breathing into tubes in certain ways. The doctor may also listen to the sounds inside your lungs. You could be asked to sit in a special room for extra measures and tests.

Common tests you might be asked to take include:18

• Measuring the capacity and flow of air into the lungs (spirometry, lung volume tests)

• Measuring how effectively the air is reaching the blood (pulse oximetry, carbon monoxide diffusion test, capillary blood sample)

Most tests will be conducted at a specialist lung clinic, but some can be done by your doctor.

Understanding the results:

This varies depending on the test. Your doctor will monitor any changes over time.

32

Imaging and scans

Looking at:

How healthy the organs inside your body look.46–49

What to expect:

There are lots of different scans and machines. Some include:

• Ultrasound: A sensor is placed on your skin and can see inside your body using sound waves. It can see how things inside your body look and move

• X-ray: Creates a picture of your lungs to check their general health. The doctor will show you what position you need to be in. It can help to wear loose, comfortable clothing. You may need to wear a hospital gown

• CT (Computed Tomography) and HRCT (High Resolution CT) scan: A type of X-ray that provides sharper and more detailed pictures than a standard chest X-ray. CT scans are now used more frequently, but it varies from hospital to hospital. During the test, you will be asked to lie in a doughnut-shaped machine. A ring will then move up and down your body

• MRI (Magnetic Resonance Imaging) scan: Uses a large magnet and radio waves to look at organs and structures inside your body. Healthcare professionals use MRI scans to diagnose a variety of conditions. During the scan, you lie on a table that slides inside a tunnel-shaped machine. Doing the scan can take a long time, and you must stay still. The scan is painless. The MRI machine makes a lot of noise and the technician may offer you earplugs.

None of the scans or images will hurt. They will all be done by specialist doctors or nurses, but some of them can take a few hours. Be prepared for some waiting around.

Understanding the results:

The results vary depending on the test used. Your doctor will normally be looking for specific things in the images and may monitor the difference against any images taken previously.

The CT scan is very commonly used to monitor the health of the lungs in people with scleroderma.

33

How are my symptoms managed?

Treatment options

Currently, there is no cure for scleroderma, but there are several therapies under investigation that aim to alter how the disease progresses.3,6

There are a range of different treatments designed to manage the many symptoms and organ problems of scleroderma.3,6,50

Your doctor will help you find the treatments that work for you. It is important to tell them exactly what you want from treatment to help them find the best one. It is also important to monitor for yourself how well you think the treatment is working.

Man

agem

ent

35

What could happen if I have scleroderma?

Don’t worry, there’s lots of

support around. I actually feel

more positive now than when

I was first diagnosed.

Mandy

People are affected by scleroderma in different ways, so it can be difficult to predict how it will progress.2

Because you have connective tissue all through your body, scleroderma can affect any area.

Organs that are often affected by scleroderma include:6,14,23,25,51

• The skin (9 out of 10 people)

• The digestive system (9 out of 10 people)

• The lungs (may be affected in 4 to 8 people out of 10)

• Less commonly, the kidneys or heart are affected (1 in 10 people)

We know that around 1 in 4 people develop noticeable lung disease within 3 years of their scleroderma diagnosis, which is why your doctor will monitor you so that any lung symptoms can be identified early.13,27

A scientific study recently found that nearly half of all organs that were affected by scleroderma showed signs within 2 years of the start of the disease.13 This might give your doctor some idea of how your scleroderma might progress and which organs will be affected.

The most important thing is to report any changes in symptoms to your doctor or nurse. They will be able to help you discuss your options and address your concerns. They will also be able to make a plan with you for the appointments and tests you will need over the next few months so that you know what to expect.

My

futu

re

37

Frequently asked questions

Can I have children?52-54

If you are thinking about having a baby, it’s important to talk to your doctor/nurse. There are some medications you shouldn’t take if you are trying to get pregnant, and they can perform some physical tests to see where any risks may be.52

If you get pregnant you may be classed as ‘high risk’. While this sounds scary, it also means that you will get lots of extra support and care from your hospital and community. Most doctors agree that with careful planning and monitoring, women who have systemic sclerosis can have a safe and healthy pregnancy.52-54

Am I going to be on medication for life?

It depends on your symptoms. Different treatments are used to manage the many symptoms of scleroderma. They should lessen the impact the disease has on you.

If you’re unhappy with the medications you’re taking, or if they make you feel unwell, tell your doctor/nurse. They will work with you to make sure you’re comfortable with the medication you’re taking.

Can I pass it on to my children?

Genetics and genes may play only a small part in the risk of getting scleroderma.

Those who have a close family member with scleroderma, for example a child, parent or sibling, have a slightly higher risk of developing scleroderma than everyone else (around 13 times). Scleroderma is a rare disease, so there is still less than a 1% chance that your child will develop it.55 It is not a disease that you can pass directly to your children or inherit from your parents.

Am I contagious?

Scleroderma is not an infection and cannot be passed directly from one person to another like chicken pox or flu. You can’t catch it from someone.

Can I continue to work?

It’s up to you. It depends on how you feel and how your symptoms affect your ability to perform your duties at work. Speak to your employer about any concerns you have. Do some research into your workers’ rights as well, just so that you’re well prepared. Make sure you know what you’re entitled to, as well as any benefits that may help you along the way.

Can I carry on with life as normal?

While the symptoms can affect how you live your life, they don’t have to rule it.

Your doctor or nurse will be able to help you manage your symptoms and make the changes you need without compromising on the things you enjoy. They have the knowledge and experience to address any questions you have (or at least to point you in the right direction), so don’t be afraid to ask.

Will my lifespan be affected?

Your type of scleroderma, your symptoms and how they progress can give an idea of what might happen in the future. Don’t be afraid to ask your doctor/nurse this question. It’s an important thing to ask. Also, if you notice any symptoms that could be related to your heart or lungs, tell your doctor as soon as you can, because it is important to address all issues without delay.

People are affected by scleroderma in different ways. It can be difficult to predict how it will progress. Although some people do have a shortened lifespan because of very serious disease complications, these are rare. We also know that the survival of people with scleroderma has been increasing over the last few decades.56,57

FAQ

s

39

Positive actions you can take

I stay positive; I think about what

I want to do and keep doing that.

Jessica

Get help from your friends and family. The more they understand about what you’re going through, the more they can help.

Set some goals for the good days and back-up plans for the less good days.

Get involved in your own monitoring.

It’s important to know what’s normal for you, and to let your doctors know when things change. This can help you keep on top of your scleroderma.

Make the most of appointments with your doctor/nurse. With a little preparation, you can:

• Cover everything that’s important to you

• Explain what’s happened so far

• Understand some of the medical terms used in scleroderma

Focus on the things you can do.

With scleroderma, the future can feel very uncertain.16 Try to focus on the things you can control, and do the things you can do. It might take a while to adjust and learn how to handle your symptoms. But in time, you’ll find ways to get on with your life in spite of them.

A range of materials to help support people living with scleroderma are currently in development. These will be available at www.morethanscleroderma.com

40

References

1. Derrett-Smith E and Denton C. Systemic sclerosis: clinical features and management. Medicine 2010;38(2):109–15.

2. Varga J and Abraham D. Systemic sclerosis: a prototypic multisystem fibrotic disorder. J Clin Invest 2007;117:557–67.

3. Denton CP and Khanna D. Systemic sclerosis. 2017. The Lancet. In Press. Available at: http://thelancet.com/journals/lancet/article/PIIS0140-6736 (17)30933-9/fulltext [Accessed November 2017].

4. European Commission. Rare Diseases: Europe’s challenges. Updated Nov 2008. Available at: http://ec.europa.eu/health/ph_threats/non_com/docs/rare_com_en.pdf.

5. U.S. Food & Drug Administration. Orphan Drugs Act – Relevant Excerpts. Updated Aug 2013. Available at: https://www.fda.gov/forindustry/developingproductsforrarediseasesconditionshowtoapplyfororphan productdesignation/ucm364750.htm [Accessed May 2017].

6. Allanore Y, et al. Systemic sclerosis. Nat Rev Dis Primers 2015; 1:1–21.

7. Pattanaik D, et al. Pathogenesis of systemic sclerosis. Front Immunol 2015;6 (article 272):1–40.

8. MacLeod AS and Mansbridge JN. The innate immune system in acute and chronic wounds. Advances in Wound Care 2016;5(2):65–78.

9. Strbo N, et al. Innate and adaptable Immune responses in wound epithelization. Advances in Wound Care 2014;3(7):492–501.

10. Ramos P, et al. Genetics of systemic sclerosis: recent advances. Curr Opin Rheumatol 2015;27:521–9.

11. Rubio-Rivas M, et al. Occupational and environmental scleroderma. Systemic review and meta-analysis. Clin Rheumatol 2017;36(3):569–82.

12. Abraham D and Varga J. Scleroderma: from cell and molecular mechanisms to disease models. Trends Immunol 2005;26(11):587–95.

13. Jaeger V, et al. Incidences and risk factors of organ manifestations in the early course of systemic sclerosis: a longitudinal EUSTAR study. PLoS One 2016;11(10):e0163894.

14. Muangchan C, et al. The 15% rule in sceroderma: the frequency of severe organ complications in systemic sclerosis. A systematic review. J Rheumatol 2013;40:1545–56.

15. Willems L, et al. Frequency and impact of disease symptoms experienced by patients with systemic sclerosis in five European countries. Clin Exp Rheumatol 2014;32(S86):S88–93.

16. Nakayama A, et al. Patients’ perspectives and experiences living with systemic sclerosis: a systematic review and thematic synthesis of qualitative studies. J Rheumatol 2016;43:1363–75.

17. van den Hoogen F, et al. 2013 Classification Criteria for Systemic Sclerosis. Rheumatism 2013;65(11):2737–47.

18. BMJ Best Practice. Systemic sclerosis (scleroderma): diagnosis. Available at: http://bestpractice.bmj.com/best-practice/monograph/295/diagnosis/tests.html.[Accessed May 2017].

19. Minier T, et al. Preliminary analysis of the Very Early Diagnosis of Systemic Sclerosis (VEDOSS) EUSTAR multicentre study: evidence for puffy fingers as a pivotal sign for suspicion of systemic sclerosis. Ann Rheum Dis 2014;73:2087–93.

20. Silver R. Clinical aspects of systemic sclerosis. Ann Rheum Dis 1991;50:854–61.

21. Scleroderma & Raynaud’s UK. Chillblains. Updated March 2016. Available at: https://www. sruk.co.uk/media/filer_public/e0/bd/e0bd8a1e-b4c 8-4536- 9adf-94474d2e21ab/chilblains_factsheet_v2_rgb.pdf [Accessed August 2017].

22. Scleroderma & Raynaud’s UK. Foot conditions. Available at: www.sruk.co.uk/raynauds/managing-raynauds/foot-conditions/ [Accessed November 2017].

23. Steen V, et al. Severe restrictive lung disease in systemic sclerosis. Arthritis Rheum 1994;66(6):1625–35.

24. Steen V and Medsger T. Severe organ involvement in systemic sclerosis with diffuse scleroderma. Arthritis Rheum 2000;43(11):2437–44.

25. Solomon J, et al. Scleroderma lung disease. Eur Respir Rev 2013;127:6–19.

26. Nihtyanova S, et al. Prediction of pulmonary complications and long-term survival in systemic sclerosis. Arthritis Rheum 2014;66(6):1625–35.

27. McNearney T, et al. Pulmonary involvement in systemic sclerosis: Associations with genetic, serologic, sociodemographic, and behavioural factors. Arthritis Rheum 2007;57(2):318–26.

28. University of Michigan Scleroderma Program. Lung Involvement. Available at: https://www.med.umich.edu/scleroderma/patients/lung.htm [Accessed May 2017].

29. Denton C and Hachulla E. Risk factors associated with pulmonary arterial hypertension in patients with systemic sclerosis and implications for screening. Eur Respir Rev 2011;20(122): 270–6.

30. Mayo Clinic. Pulmonary hypertension. Updated March 2016. Available at: http://www.mayoclinic.org/diseases-conditions/pulmonary- hypertension/symptomscauses/dxc-20197481 [last accessed June 2017].

31. Scleroderma & Raynauds UK. Lung Fact Sheet. Updated March 2016.Available at: https://www.sruk.co.uk/media/filer_public/ac/74/ac749333-b083-4046-b688-366fd01ef19b/lungs_factsheet_v2_rgb.pdf [Accessed June 2017].

32. Proudman S, et al. Pulmonary arterial hypertension in systemic sclerosis: the need for early detection and treatment. Int Med Journal 2007;37:485–94.

33. McLaughlin V, et al. Expert consensus document on pulmonary hypertension. J Am Coll Cardiol 2009;53(17):1573–1619.

34. Coghlan J, et al. Evidence-based detection of pulmonary arterial hypertension in systemic sclerosis: the DETECT study. Ann Rheum Dis 2014;73:1340–9.

35. Humbert M, et al. Screening for pulmonary arterial hypertension in patients with systemic sclerosis: clinical characteristics at diagnosis and long-term survival. Arthritis Rheum. 2011;63(11):3522–30.

36. Chatterjee S. The Cleveland Clinic Foundation. Published 2010. Available at: http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/rheumatology/ systemic-sclerosis/ [Accessed June 2017].

37. BMJ Best Practice. Systemic sclerosis (scleroderma): monitoring. Available at: http://bestpractice.bmj.com/best-practice/monograph/295/follow-up/recommendations.html [Accessed May 2017].

38. Lambova S. Cardiac manifestations in systemic sclerosis. World J Cardiol 2014;6(9):993–1005.

39. Forbes A and Marie I. Gastrointestinal complications: the most frequent internal complications of systemic sclerosis. Rheumatology 2008;48:iii36–9.

40. Cannon P, et al. The relationship of hypertension and renal failure in scleroderma (progressive systemic sclerosis) to structural and functional abnormalities of the renal cortical circulation. Medicine. 1974;53(1):1–46.

41. Lefèvre G, et al. Survival and prognostic factors in systemic sclerosis-associated pulmonary hypertension. Arthritis Rheum 2013;65(9):2412–23.

42. NHS Choices. Blood Pressure. Available at: http://www.nhs.uk/Tools/Pages/blood-pressure.aspx [Accessed May 2017].

43. Clements P, et al. Skin thickness score in systemic sclerosis: an assessment of interobserver variability in 3 independent studies. J Rheum 1993;20(11):1892–6.

44. Blood Pressure Association. Electrocardiogram (ECG) and high blood pressure. Available at: http://www.bloodpressureuk.org/BloodPressure andyou/Medicaltests/ECG. [Accessed May 2017].

45. NHS Choices. Echocardiogram. Available at: http://www.nhs.uk/Conditions/echocardiogram/Pages/Introduction.aspx [Accessed July 2017].

46. Radiological Society of North America Inc. Computed Tomography. Available at: https://www.radiologyinfo.org/en/submenu.cfm?pg=ctScan [Accessed August 2017].

47. Radiological Society of North America Inc. Magnetic Resonance Imaging (MRI). Available at: https://www.radiologyinfo.org/en/submenu.cfm?pg=mri [Accessed August 2017].

48. Radiological Society of North America Inc. Ultrasound. Available at: https://www.radiologyinfo.org/en/submenu.cfm?pg=ultrasound [Accessed August 2017].

49. Radiological Society of North America Inc. X-ray (Radiography). Available at: https://www.radiologyinfo.org/en/submenu.cfm?pg=xray [Accessed August 2017].

50. Denton C, et al. BSR and BHPR guideline for the treatment of systemic sclerosis. Rheumatology 2016;55:1906–10.

51. Steen V, et al. Pulmonary involvement in systemic sclerosis (scleroderma).Arthritis Rheum 1985;28(7):759–67.

52. Scleroderma & Raynaud’s UK. Scleroderma and Pregnancy. Updated Mar 2016. Available at: https://www.sruk.co.uk/media/filer_public/58/4c/584 ceab8-5f9a-4b3b-9d42-3c44d52ad8ab/pregnancy_factsheet_v4_rgb.pdf [Accessed Jun 2017].

53. Lidar M and Langevitz P. Pregnancy issues in scleroderma. Autoimmun Rev 2012;11(6-7):A515–9.

54. Steen V. Pregnancy in women with systemic sclerosis. Obstet Gynecol 1999;94(1):15–20.

55. Arnett F. Familial occurrence frequencies and relative risks of for systemic sclerosis (scleroderma) in three United States Cohorts. Arthritis Rheum 2001;44(6):1359–62.

56. Sampaio-Barros P, et al. Survival, causes of death, and prognostic factors in systemic sclerosis: analysis of 947 Brazilian patients. J Rheumatol 2012;39: 1971–8.

57. Steen V, et al. Changes in causes of death in systemic sclerosis. Ann Rheum Dis 2007;66:940–4.

PC-CDE-100325 Date of preparation: April 2018

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