STORY BYIt was only a handshake, but it surely saved a life.
Gregory Ferrata went to a pulmonary specialist because he was having trouble breathing and felt tired and weak. After a few tests the doctor told 37-year-old Ferrata he had a lung condition.
As Ferrata was leaving the doctor’s office, the men shook hands, and the doctor immediately felt the thickness and rigidity of the skin and joints. He asked Ferrata to make a fist, which he could not do. “The doctor said I had scleroderma and did a few more tests that supported the diagnosis,” says Ferrata.
After being diagnosed six years ago with this rare disease, Ferrata was referred to internist Dr. Frank C. Arnett, Jr., a clinician and chairman of the Department of Internal Medicine at The University of Texas Medical School at Houston.
“Mr. Ferrata had advanced scleroderma with tightening of the skin on his face, hands, arms and trunk as well as evidence that his lungs were affected,” says Arnett, also holder of the Elizabeth Bidgood Chair in Rheumatology.
At first, the patient needed oxygen to do anything physical, then he needed it all the time. He was given a drug to slow the disease progression, and a lung transplant was discussed. “There are many factors in determining if a patient is a transplant candidate,” explains Arnett.
In July of 2000, Ferrata had the transplant. Today at 43, he appears to be in remission, and his skin is loose except for his fingers. He likes talking to other scleroderma patients.
Ferrata considers himself lucky to have had an astute specialist, a physician-researcher who has helped him attain a better quality of life, and to be a patient at the university that boasts the country’s leading research program on scleroderma.
Scleroderma, also known as systemic sclerosis, is a chronic, autoimmune disease of the connective tissue which may attack the skin, lungs, esophagus, gastrointestinal tract, kidneys and/or heart.
Affecting mostly women, the involvement may range from mild symptoms to life-threatening organ failure. The body’s overproduction of collagen not only causes the skin to become thickened and tight, but results in the scarring of internal organs. It often leads to fatal lung disease.
In 1997, the Specialized Center of Research (SCOR) in Scleroderma, with Arnett directing the team of experts, was established at the UT Health Science Center at Houston by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), part of the National Institutes of Health (NIH). The objective was to merge basic science research with clinical investigation and begin unraveling the genetics of scleroderma.
The SCOR team is focusing on three areas: fibroblasts, the cells that produce excess collagen when stimulated by the immune system; blood vessels damaged by factors in the blood; and autoimmunity and the variety of antibodies produced by scleroderma patients.
A major part of the program is the special core laboratory that processes and preserves DNA and skin cells from patients, including African-Americans, Mexican-Americans, Asians and Caucasians.
Arnett is collaborating with Dr. Maureen D. Mayes, rheumatology professor and director of the NIAMS Scleroderma Registry and DNA repository, which is located at UT Medical School, and Dr. John D. Reveille, professor and director of the UT Medical School’s Division of Rheumatology.
Using a genome-wide scan that looks for the genes that cause this disease, they are analyzing blood samples from hundreds of patients and their families and are identifying the genes that more commonly occur in scleroderma patients than in unaffected family members.
They are also identifying genes that more frequently appear in family members with autoimmune diseases than in normal families.
The UT at Houston team was the first to discover that nearly every scleroderma patient has antibodies circulating in their blood directed toward fibrillin-1, a major component of connective tissue. While working with DNA chips, Dr. Xiaodong Zhou, assistant professor in rheumatology, discovered that one gene, SPARC, was being overproduced in the skin.
Further experiments revealed that SPARC is an abnormal gene in people with scleroderma and that it contributes to excessive collagen deposition. Now Zhou is exploring methods of turning SPARC up and down in order to regulate the connective tissue growth.
“SCOR combined with the Scleroderma Family Registry & DNA Repository create an outstanding basic research and clinical application,” Arnett says. Its overall objective is to identify genes that influence susceptibility to scleroderma.
As a seasoned researcher, Mayes, a physician with a master’s degree in Public Health, admits she and others are still looking for that magic bullet that will slow down or halt the progression of systemic scleroderma in all patients. But as a physician, she is pleased that she can make patients feel more comfortable today and help most attain a better quality of life than she could 20 years ago.
“The average onset for scleroderma is 45, says Mayes.” There are exceptions, like the six-year-old she saw with the disease and the woman who was 77 when she was diagnosed.
The Scleroderma Foundation estimates that 300,000 persons in the U.S. have this disease and that four times more women than men develop it. In the U.S., 3 to 5 percent of the population has one or more autoimmune diseases.
“There is a genetic component, but just because a person has the gene does not mean he or she will develop the disease,” Mayes stresses. Finding the trigger or triggers is also part of the research.
“A patient’s first symptom is usually Raynaud’s phenomenon, which is abnormal sensitivity to cold in the hands, but having Raynaud’s does not mean the patient will develop scleroderma. Next, puffiness or swelling of the hands.”
Other signs are pain and stiffness of the joints, thickening of the skin, joint contractures, digestive system and gastrointestinal tract problems, and oral, facial and dental problems.
Mayes is the UT Medical School principal investigator coordinating two major, multi-center clinical trials funded by the NIH. Both studies are placebo-controlled or double-blind, and both are still recruiting patients.
Because patients become allergic to collagen, the Oral Collagen Study’s objective is to induce tolerance or to desensitize the patients by giving them low doses of collagen orally.
The Scleroderma Lung Study is testing cyclophosphamide, a 30-year-old chemo therapy medication given in doses much lower to scleroderma patients than to cancer patients which avoids the side effects. “It is important that the patients are early in the disease and have active inflammation. The goal in this trial is to prevent scarring of the lungs,” explains Mayes.
UPDATED: 06-03-2003
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Dr. Frank Arnett is professor of internal medicine and the Elizabeth Bidgood Chair in Rheumatology at the UT Medical School.
See Dr. Arnett also at:
Dr. Maureen D. Mayes, MD MPH, is a Professor of Internal Medicine in the Department of Rheumatology and Clinical Immunogenetics at the UT Medical School.
See Dr. Mayes also at:
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