Scleroderma

HomePatientsLung Disease Week at the ATS2015Scleroderma ▶ General Information
General Information

Scleroderma Week

What is scleroderma?

Scleroderma is an autoimmune connective tissue disease of unknown cause that can involve multiple organ systems.  The term scleroderma literally means “hard skin” as it is derived from the Greek words “sklerosis” and “derma” which mean hardness and skin respectively.

Who is at risk?

The incidence of scleroderma has been estimated at 0.6 to 122 per million individuals per year while the prevalence rates range from 4 to 489 cases per million individuals.  The range of these estimates is broad given the difficulty in diagnosing scleroderma due to the overlap and resemblance of other diseases.  Systemic sclerosis is more common in adults while localized scleroderma is more common in children.  In general, the age of onset is between 25 to 55 years old.  There is a female to male predominance of approximately 4:1. 

What are the types of Scleroderma?

The two major classifications of scleroderma include localized scleroderma and systemic sclerosis (SSc).  Localized scleroderma involves the skin and occasionally muscles but typically does not progress to systemic disease. 

Systemic sclerosis affects the skin as well as blood vessels and the major organ systems.  A subset of systemic sclerosis known as systemic sclerosis sine scleroderma includes organ involvement but no obvious skin thickening.  Systemic sclerosis is otherwise divided into limited cutaneous systemic sclerosis and diffuse cutaneous systemic sclerosis. 

Limited cutaneous systemic sclerosis is characterized by skin disease that does not progress proximal to the elbows while diffuse cutaneous systemic sclerosis also involves skin proximal to the elbows and knees.  CREST syndrome is a subset of limited cutaneous systemic sclerosis that stands for: Calcinosis, Raynaud’s phenomenon, Esophageal dysmotility, Sclerodactyly, and Telengectasias.

Symptoms

Symptoms of scleroderma depend on the organ system involved.  In general, manifestations include fatigue, arthralgias, myalgias, loss of strength and skin discoloration.  As the skin is almost universally involved in scleroderma, other skin involvement includes sclerodactyly, digital ulcers, telengiectasias and calcinosis.  The most common lung manifestations include exertional dyspnea, diminished exercise tolerance and nonproductive cough.

Diagnosis

The diagnosis of scleroderma involves a careful history and physical examination revealing the classic skin findings in addition to other systemic symptoms.  Laboratory test can be notable for systemic sclerosis related autoantibodies including antitopoisomerase I (anti-Scl-70) antibody, anticentromere antibody and anti-RNA polymerase III antibody.  A joint committee of the American College of Rheumatology (ACR) and European League Against Rheumatism (EULAR) established a 2013 Classification Criteria that devises a scoring system for the diagnosis of scleroderma.  This system is mainly used for identifying patients for inclusion in clinical trials, though.  

Management

There are currently no disease modifying therapies for scleroderma and management focuses on the individual organ system involved.  From a pulmonary standpoint, directed therapies for pulmonary hypertension include the following classes of medications: endothelin-1 receptor antagonists, phosphodiesterase inhibitors and prostanoids.  The treatment of interstitial lung disease associated with scleroderma is not as well established.   Cyclophosphamide is the most robustly studied medication.  Retrospective studies and small prospective case series have evaluated the use of agents such as mycophenolate, azathioprine and adjuvant glucocorticoids.  There are ongoing studies involving other treatment options such as pirfenidone and hematopoietic stem cell transplantation.


Four Facts About Scleroderma

  1. Approximately 300,000 Americans are diagnosed with scleroderma.

  2. Approximately three to four times more women develop scleroderma. It affects every age group, but the onset is most frequent between 25 and 55.

  3. There are no known causes or treatments for scleroderma.

  4. Lung disease is a major cause of scleroderma-related deaths.