What is Scleroderma?

Scleroderma is an autoimmune connective tissue disease where there is thickening of the connective tissue in the body.

Scleroderma literally means ‘hard skin’ with ‘derm’ referring to the skin, and sclero is derived from the greek ‘skleros’ meaning hard.
What does Scleroderma feel like?

Scleroderma is a condition that chiefly affects the skin as well as other organ systems.

What it feels like depends on where and which organ is affected.

If the skin is affected, the skin can feel tight; it can be difficult to open your mouth for example if the skin is tight on the face. Moving limbs can sometimes be affected if the skin tightens across joints. How uncomfortable the feeling is depends on how severely the skin is affected and how much of the skin is affected. Sometimes limbs can be permanently bent at a joint if the skin and connective tissue is extremely tightened.

It can be difficult to swallow if the oesophagus is affected, resulting in choking and sometimes aspiration of mouth content into the lungs.

If the gut is affected, there can be bloating, reflux and constipation as well as diarrhoea.

If the lungs or heart are affected, it can be hard to breath at times. If the skin gets tight around the chest wall, that can also affect the ability to breathe.

If the joints are involved they can get tight, swollen and painful. It can be difficult to move the fingers if they are involved, as they can become very thickened.

Sometimes there can be painful deposits of calcium under the skin in different parts. These are called ‘calcinosis’ and can be painful for some people, and simply unsightly for others.

How can Scleroderma affect people?

Scleroderma is a condition that can range from the very mild to the very severe so different people can be affected in different ways with this condition. In very mild cases, it can be localised to patches of thick skin, called ‘morphea’. Then it can range from the mild, affecting only patches of skin to becoming more generalised, known as ‘diffuse’, affecting multiple organs in addition to the skin.

There are 3 forms of Scleroderma:
  1. Morphea, where only patches of skin are affected
  2. CREST syndrome, (which is also known as limited scleroderma) affects only the peripheries, including the face. It can be associated with Telangiectasia and oEsophageal issues, as well as Calcinosis and Raynaud’s disease, hence the acronym CREST
  3. Diffuse scleroderma, where large amounts of skin are affected, usually with progressive internal organ involvement

Scleroderma primarily affects the skin, but it can also cause thickening of the connective tissue in different parts of the body, such as the lungs, the vascular system, the kidneys, and the gastrointestinal tract. The connective tissue is the delicate tissue that literally connects and ensheathes the entire body. When its consistency is changed, it has an effect on the function of the various organs, interfering with the natural flow in the body. Where the thickening occurs is what results in the various symptoms and organ dysfunction.

What are the most common symptoms of Scleroderma?
Scleroderma most commonly results in thickening of the skin. It can be localized and patchy as in what is known as ‘Morphea’, or it can be systemic.

Some types of systemic sclerosis can be more localised and regional affecting only the hands forearms and face, whilst others can progress to involve large extents of the body. If that happens, it can affect movement and breathing.

Other common symptoms are:
Raynaud’s disease
Reflux, heartburn and digestive issues
Bloating and diarrhoea are quite common
Some people get arthritis associated with it, commonly affecting the hands and feet.
According to the National Institute of Health, 9/10 patients with Scleroderma get Raynaud’s disease.

Other things that can be involved are the

Lungs – either pulmonary fibrosis or pulmonary hypertension
The heart

This is quite serious if this occurs as involvement of these organs can be life threatening. In particular, having what is known as a ‘renal crisis’ which is acute inflammation of the kidneys heralded by an acute rise in blood pressure, is an indicator of poor long term outcome.

Specialist attention is needed with team of lung, kidney doctors and a cardiologist if needed in addition to your rheumatologist if these organs are involved for the best care and support possible for you and your body.

What causes Scleroderma?

We don’t yet know medically why this disease occurs. Of course, there is always a reason for everything and nothing is random, we have just not yet understood why this disease occurs. Loosely we understand it to be an autoimmune connective tissue disease, which is a condition where the body’s own immune system turns on itself.

Who gets Scleroderma?

Scleroderma is not a common disease.

The annual incidence in the USA of new cases diagnosed is only 20 people in every million people per year, with an overall prevalence of 276 people in every million having the disease.

The peak age of onset of symptoms is between 30-50 although people of any age can be affected, including children.

It is 7-9 times more common in women than men.

There are some racial differences:

It is more common in African Americans
African Americans can get more severe disease
  • It is not understood why this is the case.
How do we treat Scleroderma?
There is no cure for Scleroderma and treatment depends on the organs which are affected by the condition.

The mainstay of treatment for Scleroderma are DMARDs.

Different DMARDs may be used, depending on which part of the body is affected.

  • Penicillamine is a common one that is to treat skin thickening.
  • Methotrexate may be used to treat arthritis.
  • Mycophenolate may be used for renal disease.
  • Prednisolone is frequently used, but long term therapy with this agent is not ideal due to the long term side effects.

Unfortunately there is no cure for Scleroderma and most people have long term symptoms that usually worsen with age.

If the kidneys are engaged with the disease, it is important that the blood pressure is controlled to minimise damage to the filtration units of the kidneys. Some medications that assist with this are known as the A2RB or ACE inhibitors. Speak to your doctor to get more information about this.

If the lungs are involved a respiratory physician will be involved to guide your treatment.

If the circulation is affected, sometimes specific blood pressure medicines that improve circulation are prescribed, amlodipine is a common one, and if they fail, then sometimes prostaglandin infusions are given.

Treatment is always tailored according to the symptoms and needs of each person, which is always unique. There is no one set ‘prescription’ to treat Scleroderma. It is important to have a good relationship with your treating Rheumatologist who will tailor a treatment regime for you and your unique needs.
What is the long term outcome with Scleroderma?

There is no cure for Scleroderma. The course of the disease is different for each person and cannot be definitely predicted. Having said that,

Most people with Scleroderma have mild disease and live a long life.

Some people can have skin disease that relapses. Diffuse disease can come on suddenly, but it can also go into remission in some people after a few years with the skin softening. Usually the condition is a lifelong one which progresses. The outcome and impact depends on which organ system is involved, and how extensive the skin involvement is.

The more extensive the skin involvement, the worse the outcome.

Also, the involvement of organs such as the heart, the kidneys and the lungs is not a good sign and is a sign of shorter life expectancy due to complications from the disease. On the other hand, people with limited disease, and no organ involvement can live a long life as do others without Scleroderma.

Other Resources

Scleroderma is a complex disease which can have a profound effect on the health and well-being and life of the person affected with the disease, as well as their family and friends. For more information on the disease you may wish to visit these links.

There are some great tips on the following site, and they have an associated support group, which can be supportive:

The key thing in all of this is to have a solid and supportive relationship with your treating Rheumatologist who can guide you through this.