Scleroderma is a chronic disease that leads to skin fibrosis (“thickening”) and blood vessel changes. The exact cause is unknown. It affects the skin, joints, lungs, kidneys, heart, and gastrointestinal tract. It most commonly affects middle-aged women.

How do you diagnose scleroderma?

The diagnosis is based mainly on symptoms and physical exam. Laboratory testing helps characterize the disease further and predict which organs are likely to be affected.

What are the signs and symptoms of scleroderma?

Scleroderma symptoms include:

“Puffy hands” in early stages of disease

Followed by skin tightening

Scleroderma patient demonstrating tightened facial skin. From Sterling West. Rheumatology Secrets. Elsevier. 2015

Raynaud’s phenomenon (white and purple fingers in the cold)

Raynaud’s as pictured in an NEJM article. Wigley FM, Flavahan NA. Raynaud’s Phenomenon. N Engl J Med. 2016 Aug 11;375(6):556-65

Severe acid reflux and/or diarrhea

Joint pain with or without swelling

Lung scarring with or without high pulmonary pressures.

What are the different types of scleroderma?

Limited systemic sclerosis (CREST Syndrome)

This subset of patients experience skin tightening (below elbows and knees as well as face), acid reflux, Raynaud’s, calcium deposits under the skin, and “red dots” over the skin called “telangiectasia”.

Their disease progresses slowly. The most severe complication tends to be pulmonary hypertension (high pulmonary lung pressures), that can manifest as shortness of breath or cardiovascular symptoms such as chest pain or leg swelling in more advanced stages. 

Diffuse systemic sclerosis

This subset develops skin tightening diffusely. The disease tends to progress rapidly. Patients experience Raynaud’s and acid reflux. They can develop lung inflammation and scarring more commonly than the limited systemic sclerosis group. They also can develop a life-threatening complication called “scleroderma renal crisis,” in which they present with kidney failure (decreased renal function), low hemoglobin and with or without high blood pressure. Thankfully, a group of drugs called ACE inhibitors, such as captopril, are lifesaving in most cases and this is no longer the main cause of mortality as it used to be prior to the use of ACE inhibitors.

Systemic sclerosis without scleroderma (systemic sclerosis sine scleroderma)

This group of patients don’t have the skin tightening, but do have internal organ involvement similar to the other two groups.

How do we treat scleroderma?

The treatment of scleroderma is based on complications.

We help patients manage heartburn with antacid medications. We also recommend not going to bed within 3 hours from the last meal and elevating the bed about 8 inches or more if possible.

For Raynaud’s, keeping the hands and feet as warm as possible is recommended, but there are several medications that can be used to treat this as well, such as nifedipine, sildenafil, among others.

For more severe complications such as lung inflammation or scarring, we use medications that suppress the immune system, such as mycophenolate. There are other medications that can be used to improve oxygenation and shortness of breath related to low oxygen levels due to high blood pressure in the lungs, such as sildenafil, bosentan and IV prostaglandins. For lung involvement or high pulmonary lung pressures, we work with our pulmonary medicine colleagues who help us in managing and following up on these complications. 

If untreated, it usually follows its course over many years, except in the case of the diffuse form that can progress rapidly. “Scleroderma renal crisis” is a true emergency and can be lethal if not treated promptly. Other causes of death are lung and heart complications.

What is the life expectancy for someone with scleroderma?

It is difficult to predict this as the disease have different presentations and clinical course.  It varies according to the subtype and organ involvement. For example, patients with high pulmonary lung pressures (so-called pulmonary hypertension) have a >3 fold increased risk of death compared with patients without pulmonary hypertension. In such patients the 1-, 2- and 3-year cumulative survival rates were 93%, 88%, and 75% respectively in a study of 131 patients with scleroderma and pulmonary hypertension in 22 US scleroderma centers. Once again, patients should not look into these numbers to judge what their survival is, as scleroderma manifests differently in every patient. Most important part of the care is to follow up periodically with their rheumatologist and undergo screening for complications every 1 to 2 years or at the time of new symptoms. 

Scleroderma is a chronic illness. Patients afflicted with diffuse scleroderma, tend to have a more aggressive disease, with worse prognosis as far as internal organ complications and mortality. On the other hand, patients with the limited form of the disease, so-called CREST syndrome, have a very slow clinical course with better prognosis in general.

Living with scleroderma

Living with scleroderma can impact patient’s lives dramatically given that depending on the severity, the ability of using their hands is progressively impaired due to tightness and contractures. Diarrhea can be severe and malnutrition can develop if not addressed properly. In more severe cases, shortness of breath can limit activities of daily living.

Non-pharmacologic therapies that can improve quality of life include: moisturizing the skin to avoid skin breakdown, physical therapy or physical activity in general in an attempt to ameliorate stiffness and consultation with a nutritionist or gastroenterologist to address diarrhea if severe.

As far as new therapeutic options. Most recently the role of autologous hematopoietic stem-cell transplantation has been studied in America through the SCOT trial for patients with scleroderma, with promising results as far as overall improved survival. Further studies are needed to better understand the risks and benefits of such procedure. The main challenge remains how to decrease the post-transplant complications, which are a cause of mortality itself.

Alana M. Nevares, MD, is a rheumatologist at the University of Vermont Medical Center. She is also assistant professor at the Robert Larner, MD, College of Medicine at the University of Vermont.

Sources

Sullivan K.M., et al. (2018). Myeloablative Autologous Stem-Cell Transplantation for Severe Scleroderma. The New England Journal of Medicine. 378;1. 35-48.

Chung L, et al. (2014).Survival and Predictors of Mortality in Systemic Sclerosis–Associated Pulmonary Arterial Hypertension: Outcomes From the Pulmonary Hypertension Assessment and Recognition of Outcomes in Scleroderma Registry. Arthritis Care & Research, Vol. 66. 489-495.

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