Dr. Carlo Cuerzo stimulated a great deal of discussion among 18th century physicians when he published a monograph in French about a young woman who had developed areas of hardness on her skin with tightness around the mouth and cold hands and feet but no other problems.
That was the first medical description of scleroderma, and 260 years later, medical professionals are still often baffled when they are confronted by the symptoms of this relatively rare autoimmune disorder. Many doctors and nurses know about the disease mainly from their reading of medical texts and literature.
Of the 300,000 Americans with scleroderma, 75 to 80 percent are women, most of them between ages 30 and 50. The effect on them ranges from annoying skin problems to extreme pain and disability.
The basic feature of the disease is excessive deposits of collagen around body tissues. Collagen is a major part of connective tissue in the skin, tendons, ligaments and joints. It also surrounds organs of the body such as the stomach, kidneys, lungs and heart.
Whenever an injury occurs, collagen is the substance responsible for forming scar tissue as part of the healing process. With the overproduction of collagen that occurs with scleroderma, however, normal cells become replaced with scars that interfere with normal bodily functions. In some cases, such as in the lungs, this can be life threatening.
Disease Takes Many Forms
The disease takes many forms; severity and symptoms vary widely from person to person. Symptoms may come on slowly or rapidly, and they are hard to distinguish from those of other diseases.
Fortunately, the most common type (localized scleroderma) affects mainly the skin on the hands, arms and face; develops slowly; and rarely spreads throughout the body. Even so, the effects can be disfiguring and disabling.
One of the earliest signs of scleroderma is often Raynaud’s phenomenon, an exaggerated response to cold temperatures or emotional distress. The small blood vessels in the hands and feet constrict, causing toes and fingers to become numb and discolored. Aside from the discomfort, persons with Raynaud’s syndrome have an increased risk of skin sores or ulcers.
The increased collagen can crowd out sweat and oil glands, causing the skin to become dry and stiff. Tightening skin on the face can make the mouth opening smaller, changing the person’s appearance and making it harder to care for teeth.
As patches of skin become thickened, the hands and feet may appear swollen, but not with accumulated fluid, as is the case with edema. The skin becomes so tight that it appears shiny. Even if these skin changes fade away in a few years, as they often do, darkened skin patches remain.
Diffuse scleroderma, as the name suggests, spreads to many parts of the body including the stomach, lungs, heart, blood vessels and kidneys. It’s capable of causing serious, life threatening complications.
Too much collagen in the gastrointestinal system can cause digestive problems. Scar tissue in the esophagus makes it hard to swallow; in the colon, it leads to diarrhea or constipation.
Nearly all patients with diffuse scleroderma suffer lung damage, often within the first three years. In some cases, this is severe. Signs of lung damage include fatigue, shortness of breath, difficulty breathing and swollen feet.
Hardening or scarring of lung tissue is known as pulmonary fibrosis; it disrupts the normal exchange of oxygen and carbon dioxide.
Scarring can also affect blood vessels, resulting in pulmonary hypertension–elevated blood pressure in the artery that carries blood from the heart to the lungs.
The heart is frequently affected, resulting in weakening of the heart muscle, arrhythmias and heart failure. With increased calcification in coronary arteries, scleroderma patiuents have an 11-fold increased risk of coronary heart disease, even if they have no other risk factors. Although serious, all of these heart complications can be treated.
In the kidneys, effects include high blood pressure, chronic kidney impairment and leakage of protein into the urine. The most serious complication is scleroderma renal crisis (SRC) or kidney failure associated with the systemic scleroderma.
Scleroderma renal crisis is a medical emergency, and, until recently, most patients died within three months. The introduction of ACE inhibitor drugs in the late 1970s brought about a major reversal of this dire prognosis. Even so, more than half of patients require dialysis, and a good number die within the next few years.
Who To Turn To?
With the wide range of possible symptoms and complications, scleroderma is difficult to diagnose. And the patient may be confused as to what kind of medical specialist can best help her.
For localized scleroderma, the patches of thickened skin can be puzzling to both the patient and the doctor. But even if the disease progresses slowly or eventually resolves, the patient can feel considerable anxiety regarding disfigurement and benefit from psychosocial as well as medical help.
When skin hardness advances rapidly, there is a good chance that internal organs will soon be affected. The patient needs to keep a close eye on blood pressure and be quick to report signs of digestive, breathing or kidney problems. Rapid diagnosis and treatment are crucial to avoid serious illness.
In most cases, a rheumatologist with experience treating autoimmune disorders is best qualified to supervise care, but other specialists such as cardiologists, pulmonologists and gastroenterologists may need to be consulted frequently. Physical and occupational therapists usually play a prominent role in meeting the varied needs of a scleroderma patient.
The patient must be prepared for the ordeal of living with a complex chronic disease. Effects can include impairments in hand function, joint pain and stiffness, heartburn, trouble swallowing, constipation and sexual dysfunction as well as severe lung, heart and kidney problems.
Understanding scleroderma is important. But there is much to understand.
REFERENCES:
Kevin Deane, M.D., “Hope for juvenile localized scleroderma,” Arthritis Rheum 2011;63:1998-2006.
Robert Fox, M.D., “Scleroderma, intolerable finger pain, and progressive digital gangrene,” Medscape Medical News, April 27, 2005 (American College of Rheumatology 2008 Annual Scientific Meeting Abstract 639, presented October 26, 2008).
Elaine R. Furst, R.N., M.A., “Scleroderma: a fascinating, troubling disease,” Advanced Practice Nursing Journal, 2004;4(2).
Janis C. Kelly, “Scleroderma patients at 11-fold increased risk for CAD,” Medscape Medical News, May 16, 2011 (Arthritis Rheu, 2011;63:1387-1395.
Mayo Clinic Staff, “Scleroderma,” MayoClinic.com, Octob er 16, 2010.
MEDLINE Abstracts: Scleroderma–Pathogenesis and Treatment,” Topics in Advanced Practice Nursing eJournal 2004;4(2).
NIH, “What is scleroderma?” updated August, 2010.
NIH, “Handout on health: scleroderma,” August, 2012.
Henry Penn and Christopher P. Denton, “Diagnosis, management and prevention of scleroderma renal disease,” Current Opinions in Rheumatology, 2008;20(6):692-696.
Janet L. Poole, “Musculoskeletal rehabilitation in the person with scleroderma,” Current Opinions in Rheumatology, 2010;22(2):206.
“Scleroderma,” PubMed Health, last reviewed February 2, 2012.
05/10/2013
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