Diffuse systemic sclerosis (diffuse scleroderma): symptoms and care

Scleroderma is a range of autoimmune conditions that can cause hard, thickened areas of skin and sometimes problems with muscles, bones, internal organs and blood vessels, according to the NHS. Scleroderma and Raynaud's UK (SRUK) explains that the systemic form, now more often called systemic sclerosis, comes in two main types, limited and diffuse, and more often affects blood vessels, tissues such as muscle and internal organs such as the lungs, heart or kidneys as well as the skin.

Arthritis UK describes systemic sclerosis as a rare autoimmune condition in which the immune system attacks the body's own cells, and skin and connective tissue inside the body harden and thicken like scar tissue. Diffuse disease can affect skin all over the body and is more likely to affect the internal organs. The NHS explains that it is thought part of the immune system has become overactive, so that cells in the connective tissue produce too much collagen, causing scarring and thickening (fibrosis).

It usually starts between the ages of 25 and 55 according to Arthritis UK, and mostly affects women, according to the NHS. It is a long-term condition. The course differs enormously: Arthritis UK says most people find it affects just a few parts of the body and comes on gradually, but sometimes it progresses more quickly.

Symptoms vary widely between people. Arthritis UK lists the main groups.

Arthritis UK says systemic sclerosis can sometimes cause serious problems, including scarring of the lungs causing shortness of breath and a dry cough, narrowing of the blood vessels of the lungs leading to high blood pressure in the lungs which may strain the heart, and kidney problems resulting in high blood pressure. A severe rise in blood pressure that can lead to kidney damage and strain on the heart is called a systemic sclerosis renal crisis, which Arthritis UK says can be treated or prevented with drugs that control blood pressure, especially ACE inhibitors.

Because these complications can develop silently, regular monitoring is part of care. Arthritis UK says to have regular check-ups, preferably once a year, and the NHS says that you will need regular blood pressure checks and other tests to check for problems with your organs. Arthritis UK also notes that about one in five people with systemic sclerosis have symptoms of another condition, such as lupus, Sjogren disease or inflammatory arthritis, which also need treatment.

The NHS advises seeing a GP if you have Raynaud's symptoms alongside joint pain, skin rashes or muscle weakness, or if you are over 30 and get Raynaud's for the first time, as these can point to an underlying condition. If you already have a diagnosis, contact your specialist team about new breathlessness, new swallowing difficulty or a change in your skin, since your team monitors these.

For severe breathing difficulty, chest pain spreading to the arms, back, neck or jaw, blue or grey lips or skin, or sudden confusion, the NHS says to call 999 or go to A&E. Because high blood pressure is the key warning sign for the kidney complication described above, ask your specialist team which blood pressure readings should prompt you to call them.

Arthritis UK says there is no single test, and that often it is the thickening of the skin that leads a doctor to make the diagnosis. Tests are then used to find out whether other parts of the body are affected.

The tests Arthritis UK lists include blood tests, X-rays and CT scans, breathing tests, a heart scan such as an echocardiogram, stomach tests such as an endoscopy, a skin biopsy and capillaroscopy, which looks at the small blood vessels around the fingernails. It notes that some tests are often performed only at specialist centres.

The NHS describes the aims as relieving symptoms, preventing the condition getting worse, detecting and treating complications such as pulmonary hypertension, and helping you keep the use of affected parts of the body. The treatments depend on what is affected.

Arthritis UK lists drugs such as nifedipine and sildenafil to improve circulation in Raynaud's, with iloprost infusions for painful ulcers; antacids and proton pump inhibitors for heartburn and swallowing problems; painkillers and NSAIDs for joint pain; and ACE inhibitors to control blood pressure and prevent renal crisis. Inflammation in the lungs can be treated with steroids or DMARDs, and pulmonary hypertension with specific drugs that improve breathlessness.

In more severe disease, particularly where skin or lung involvement is extensive, Arthritis UK says immunosuppressive drugs may be used, including methotrexate, ciclosporin, cyclophosphamide, mycophenolate and azathioprine, and the biological therapy rituximab is sometimes used. Steroid tablets are usually given in low doses because high doses can raise blood pressure and increase the risk of kidney problems. Which treatments apply to you depends on how the condition affects you.

Arthritis UK recommends regular exercise to keep skin flexible and joints mobile, a healthy diet, a good skin care routine and keeping warm from top to toe, with advice from a physiotherapist or hand therapist on stretching exercises. It suggests eating several small meals, eating slowly and raising the head of the bed if you have heartburn. It also says smoking reduces blood flow to the skin and is very likely to make Raynaud's symptoms worse.

The NHS adds that an occupational therapist can suggest changes to your home and equipment, and that talking to other people who are affected can help. SRUK is a UK charity for people with scleroderma and Raynaud's. The NHS says women with systemic sclerosis may find it harder to get pregnant and may have a slightly higher risk of miscarriage and premature birth, but that a pregnancy planned with a doctor during a stable period can be successful.

Outlook is individual. Arthritis UK says the body can break down or repair extra scar tissue, so there may be some improvement in scarring once the disease becomes less active, and that for some people the symptoms can almost disappear after several years. The NHS says some types may improve on their own while others can lead to severe and life-threatening problems, and that diffuse disease is generally more severe than the limited form. Ask your specialist team about what is expected in your situation, and about the monitoring schedule that applies to you.