Patricia Yarberry Allen, M.D. is a Gynecologist, Director of the New York Menopause Center, Clinical Assistant Professor of Obstetrics and Gynecology at Weill Cornell Medical College, and Assistant Attending Obstetrician and Gynecologist at New York-Presbyterian Hospital. She is a board certified fellow of the American College of Obstetrics and Gynecology. Dr. Allen is also a member of the Faculty Advisory Board and the Women’s Health Director of The Weill Cornell Community Clinic (WCCC). Dr. Allen was the recipient of the 2014 American Medical Women’s Association Presidential Award.

Dear Dr. Pat,

I am 48 years old and had my last period one year ago.  I had been really tired and had joint discomfort in the year before this, along with worsening heartburn and a feeling every once in a while that food was getting stuck in my esophagus.  I saw my general doctor, who said that women in menopause had some of these symptoms, and told me not to worry—that it would pass. After a few months I saw a GI doctor who did a scope of my esophagus and stomach and found nothing wrong.  He reassured me as well.  Told me to have smaller bites of food, chew longer, and drink water after swallowing.  Then, literally overnight, my skin became tight on my face and my fingers. I have always had poor tolerance to cold. Cold weather would cause the tips of my fingers to turn blue and burn.  I saw a dermatologist, who sent me to a rheumatologist, who diagnosed me with scleroderma.  No one in my family has had this disease.  Would hormone therapy have helped prevent this?  Why did it take so long to diagnose?

Ruth

Dear Ruth,

Scleroderma is a disorder that is often quite difficult to diagnose in its early stages.  There is no known association with scleroderma and menopause or hormone therapy.  Women are more likely than men to get this disorder, and it often occurs between the ages of 30 and 50, although there are pediatric cases of this disease as well.

I have asked Dr. Steve Magid, a rheumatologist on staff at the Hospital for Special Surgery in New York City and a member of the WVFC Medical Advisory Board, to discuss this disorder with you and our readers and to answer your questions in more detail.

Dr. Pat

 

Dear Ruth,

Scleroderma is one of the many “autoimmune” diseases. The immune system is designed to protect oneself from things like infections and cancer. But in these diseases, the immune system is directed against you instead.  There are a number of illnesses that have an autoimmune basis; these include most types of hypothyroidism (underactive thyroid), as well as rheumatoid arthritis and systemic lupus erythematosis.

Estimates of the prevalence of scleroderma range from 75,000 up to 300,000 patients in the United States, so it is a relatively rare disease. It is most common in women between the ages of 30 and 50, although men and children may also be affected.

The hallmark of scleroderma is thickening, hardening, and tightening of the skin due to a buildup of fibrous (or scar) tissue. However, early in the course of this illness there may also be swelling due to inflammation. The disease is also known as “systemic sclerosis,” because other organs may be involved, such as the muscles and joints, lung, kidneys, heart, and gastrointestinal tract.  Symptoms of the disease will vary, depending on which organ system is involved.  For example, when the lungs are affected there may be cough, shortness of breath, and difficulty exercising.  When the GI tract is involved, there is often difficulty swallowing, heartburn, and irregular bowel movements. Joint and muscle pain are quite common.

There are also more localized forms of the disease that are generally limited mostly to the skin.  In this form, scleroderma creates more of a cosmetic problem.  In addition, for reasons that are not fully understood, patients with scleroderma frequently have “hyperactive” blood vessels, which leads to marked cold sensitivity that causes the fingers and toes to turn blue or white and be quite painful. This is known as Raynaud’s syndrome.

Nobody knows what causes scleroderma. As with many autoimmune diseases, there is probably no single specific cause, but rather a complex series of issues that lead to the disease.  There is likely both a genetic component as well as an environmental component.  It is also known that certain toxins can cause diseases similar to scleroderma.

Scleroderma may be very difficult to diagnose early in its course. Most patients are diagnosed “clinically”—that is, is based on their symptoms and findings on a physical exam.  There are many helpful laboratory tests that detect particular auto antibodies, but there is no specific test that clearly provides information that this illness is present or not.

Unfortunately there is no cure for scleroderma; however, many of the most troubling manifestations of the illness can be treated.  For example, hypersensitivity to the cold can be treated with medications that dilate blood vessels (most often, those used to treat blood pressure).  Many drugs are available to treat the heartburn associated with involvement of the esophagus. And scleroderma kidney disease can frequently be controlled by using a class of drugs called ACE inhibitors.

Remember that the disease varies a great deal from one person to another. Some forms are very serious; however, many patients have limited and mild disease. Rheumatologists are the doctors with special expertise in scleroderma; they have the most experience in this complex illness, with its many symptoms. Support groups for patients with this illness are available on line. Do ask your doctor for a suggestion for a group that is reputable.  It often helps to communicate with other patients who share your symptoms and concerns.

Much research is being done to understand the causes of scleroderma and to find ways to limit the symptoms.   We look forward to the day when this column could end with “.  . . and the cure for scleroderma was recently discovered . . .”

Dr. Steve Magid

For  more information visit The New York TimesPatient Voices: Scleroderma, where six men and women speak about how scleroderma has affected them.

Steven K. Magid, M.D., is a graduate of Brandeis University and Cornell University Medical College.  After completing his Internship and Residency at the New York Hospital, he completed his Fellowship at the Hospital for Special Surgery. He is an Attending Physician at the Hospital for Special Surgery, New York-Presbyterian Hospital, and Professor of Clinical Medicine, Weill Cornell University Medical College. He has a very large clinical practice specializing in General Rheumatology, with particular emphasis on rheumatoid arthritis, lupus, Lyme disease, as well as osteoarthritis. Through the years, Dr. Magid has published on a variety of subjects, and he is active in the Weill-Cornell Medical College teaching program.

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