Systemic sclerosis: symptoms, types, treatment and outlook

The NHS lists the typical symptoms of the limited type as thickening of the skin over the hands, feet and face, red spots on the skin, hard lumps under the skin, heartburn and problems swallowing (dysphagia). The diffuse type can also cause weight loss, fatigue, and joint pain and stiffness.

Raynaud's is often the earliest sign. The NHS says that when you are cold, anxious or stressed, your fingers and toes may change colour, turning white or a lighter colour, then blue, then red as blood flow returns, sometimes with pain, numbness or pins and needles. Symptoms may last from a few minutes to a few hours.

If the heart, lungs or kidneys are involved, there may be shortness of breath, high blood pressure and pulmonary hypertension. The NHS says pulmonary hypertension is high blood pressure in the vessels supplying the lungs, with symptoms such as breathlessness, tiredness, feeling faint or dizzy and swelling in the legs.

• Thickened, tight skin on the hands, feet and face.

• Fingers and toes that turn white, blue or red in the cold (Raynaud's).

• Red spots on the skin and hard lumps under the skin.

• Heartburn and difficulty swallowing.

• Fatigue, weight loss, and joint pain and stiffness (more often in the diffuse type).

• Breathlessness, which may signal that the lungs or the lung blood vessels are involved.

The NHS says scleroderma occurs because part of the immune system has become overactive and out of control. Cells in the connective tissue then produce too much collagen, causing scarring and thickening, known as fibrosis. It is not clear why this happens, though certain genes are thought to be involved.

Localised scleroderma, also called morphoea, mostly affects the skin and can occur in children and adults. Systemic sclerosis is different because it can involve blood circulation and internal organs. Some forms of scleroderma may eventually improve on their own, while others can lead to severe and life-threatening problems.

The NHS describes limited cutaneous systemic sclerosis as usually affecting the skin on the hands, lower arms, feet, lower legs and face, although it can eventually affect the lungs and digestive system. It often starts as Raynaud's. It tends to get gradually worse but is generally less severe than the diffuse type and can often be controlled.

Diffuse systemic sclerosis causes skin changes that can affect the whole body and is more likely to affect internal organs. Weight loss, fatigue and joint pain and stiffness can occur.

The NHS says there is no cure for scleroderma, but symptoms can usually be managed by a range of treatments. The aim is to relieve symptoms, prevent the condition getting worse, detect and treat complications such as pulmonary hypertension, and help you keep using the affected parts of the body.

Common treatments include medication to improve circulation, medicines that reduce the activity of the immune system and slow the progression of the condition, steroids to relieve joint and muscle problems, moisturising affected skin to keep it supple and relieve itchiness, and various medicines to control other symptoms such as pain, heartburn and high blood pressure.

If symptoms are severe, surgery may be needed, for example to remove hard lumps under the skin or loosen tightened muscles. The NHS says newer treatments such as laser therapy and photodynamic therapy may also be available.

For Raynaud's, the NHS says a GP may prescribe a medicine to improve circulation if symptoms are very bad or getting worse, for example nifedipine, which some people take every day and others use only in cold weather.

The NHS says many therapies and lifestyle changes can reduce the impact of scleroderma. Regular physiotherapy and stretching exercises may help keep muscles supple and loosen tight skin, and an occupational therapist can suggest changes to your home and equipment to make daily life easier.

To protect your circulation, the NHS advises keeping hands and feet warm with thick gloves and socks, eating healthily, exercising regularly and stopping smoking if you smoke. For Raynaud's, it also advises avoiding sudden changes in temperature and not having too much caffeine, which can trigger symptoms.

Many people find it helps to read about the condition and talk to others who are affected. The NHS names Scleroderma and Raynaud's UK (SRUK), which provides information and ways to find support groups.

The NHS says it is thought that scleroderma occurs because part of the immune system has become overactive and out of control. This leads to cells in the connective tissue producing too much collagen, causing scarring and thickening, known as fibrosis. It is not clear why this happens.

Certain genes are thought to be involved, and having a close family member with the condition may increase your risk.

The NHS says a GP may arrange tests if Raynaud's could be a sign of a more serious condition, such as rheumatoid arthritis or lupus. Systemic sclerosis itself is managed by rheumatology teams, and the Leeds service described below sits within a rheumatology department.

Monitoring is a central part of care. The NHS says you will need regular blood pressure checks and other tests to check for problems with your organs. For suspected pulmonary hypertension the NHS says tests include an echocardiogram and, where needed, right heart catheterisation.

The Leeds Teaching Hospitals service page shows how a specialist centre works: routine monitoring appointments, access to wound care, podiatry, physiotherapy, occupational therapy, pharmacy and psychology, with an advice line for problems such as painful blue fingers. It advises urgent A&E attendance for blue, painful hands or feet with black areas or new wounds.

The NHS says you should see a GP if you have Raynaud's symptoms that are very bad or getting worse, if symptoms are only on one side of the body, if you also have joint pain, skin rashes or muscle weakness, if you are over 30 and get Raynaud's for the first time, or if a child under 12 has symptoms.

The Leeds Raynaud's and Systemic Sclerosis Service advises that if your hands or feet are blue and painful and there are black (gangrenous) areas or new ulcers, you should go to Accident and Emergency immediately. If they are blue and painful without wounds, contact your specialist team for advice. The service also says that if a problem needs urgent attention you can contact the GP out-of-hours service or attend A&E.

The NHS says women with systemic sclerosis may find it harder to get pregnant and could have a slightly higher risk of miscarriage and giving birth prematurely. However, if the pregnancy is planned in consultation with a doctor during a period when the condition is stable, there is no reason why a woman with systemic sclerosis cannot have a successful pregnancy.

The NHS says some types of scleroderma may eventually improve on their own, while others can lead to severe and life-threatening problems. The limited type tends to get gradually worse over time, although it is generally less severe than the diffuse type and can often be controlled with treatment.

Because the outlook depends on the type and on which organs are involved, it is worth asking your specialist what applies to you. Regular monitoring is a central part of care, so complications can be found early.

Systemic sclerosis is managed through NHS rheumatology, often at centres with a dedicated scleroderma service, alongside lung, heart, gut and skin teams. The Leeds service shows how this works in practice: routine monitoring appointments, access to wound care, podiatry, physiotherapy, occupational therapy, pharmacy and psychology, and an advice line between appointments.

A private rheumatologist can give an earlier opinion and arrange tests, but lifelong monitoring for organ complications works best when coordinated with an NHS specialist service so that results are not scattered.