Ask the Experts: Scleroderma
June 26, 2014
Scleroderma (also known as systemic sclerosis) is a chronic autoimmune rheumatic disease. It is estimated that about 240 per million Americans have this disease; most are women between the ages of 30 and 50. The word “scleroderma” comes from two Greek words: “sclera” meaning hard, and “derma” meaning skin. Hardening of the skin is one of the most visible signs of this disease.
The symptoms of scleroderma vary greatly from person to person, and the effects of scleroderma can range from very mild to life-threatening. The seriousness of scleroderma depends on the parts of the body that are affected and the extent of the disease. A mild case can become more serious over time. Prompt and proper diagnosis and treatment may minimize the symptoms of scleroderma and lessen the chance of irreversible damage.
Currently, there is no cure for scleroderma, but there are many treatments available to help with symptoms. Getting an accurate diagnosis is critical, and routine follow-up with your physicians is important.
About the Speakers
Soumya Chatterjee, MD, MS, FRCP (UK), FACP, FACR, is a staff physician and associate fellowship program director in the Orthopedic and Rheumatologic Institute at Cleveland Clinic. He is also an assistant professor at Cleveland Clinic Lerner College of Medicine. Dr. Chatterjee is board certified in rheumatology and is a fellow of the American College of Physicians, the American College of Rheumatology and the Royal College of Physicians of the United Kingdom. He completed an internal medicine residency and a rheumatology fellowship at Wayne State University School of Medicine in Detroit. He also has a Master of Science degree in Clinical Research Design and Statistical Analysis from the University of Michigan School of Public Health in Ann Arbor. Dr. Chatterjee is a general rheumatologist who sees patients with complex, multisystem rheumatologic conditions. He specializes in scleroderma, Raynaud phenomenon, rheumatoid arthritis, lupus and myositis.
Kristin Highland, MD, is a staff physician in Cleveland Clinic’s Department of Pulmonary, Allergy and Critical Care Medicine. Dr. Highland is board certified in rheumatology, pulmonology and critical care medicine. She completed her fellowships in rheumatology and pulmonary disease at the Medical Center of Medical University of South Carolina in Charleston. She received further training in medicine with the United States Air Force, in Altus, Ok. Dr. Highland completed her residency in internal medicine at the Medical Center of Medical University of South Carolina in Charleston. She is a medical school graduate of the Indiana University School of Medicine in Indianapolis. Dr. Highland’s research interests are in scleroderma interstitial lung disease and pulmonary hypertension. She is recognized as a national and international clinical expert in pulmonary manifestations of connective tissue diseases. Dr. Highland has served on the Interstitial and Diffuse Lung Disease Steering Committee for the American College of Chest Physicians. Her clinical practice is composed of complex patients with interstitial lung disease, pulmonary hypertension, sarcoidosis and the pulmonary complications of the rheumatic diseases, including scleroderma, polymyositis/dermatomyositis, mixed connective tissue disease, systemic lupus erythematosus, rheumatoid arthritis and vasculitis.
Let’s Chat About Ask the Experts: Scleroderma
Moderator: Let's get started with our questions.
Good to Know
butterflybus: My mom has MS and my grandmother has scleroderma. Does that put me at a higher risk?
Soumya_Chatterjee,_MD,_MS,_FRCP: The risk of a family member being affected by scleroderma is about two percent. It is higher than the background prevalence in the general population (which is 250 per million Americans or 0.025 percent). However, the absolute risk is still very small, so the risk of a family member being affected is still generally small.
Kristin_Highland,_MD: Regarding your mom having MS, it is not uncommon for autoimmunity to run in families. For example, one patient could have MS, another scleroderma or lupus and yet another with thyroid disease. It is always important that you share your family history with the physicians who care for you.
Moderator: I saw that you offer a comprehensive evaluation. What does this entail?
Kristin_Highland,_MD: We have a multidisciplinary group interested in scleroderma. The members of our team include:
- Soumya Chatterjee, MD, MS, FRCP (UK), FACP, FACR, who is a rheumatologist and is head of our scleroderma program Kristin Highland, MD, who is a pulmonologist also trained in rheumatology and specializes in scleroderma-related pulmonary fibrosis and pulmonary hypertension
- Joseph Parambil, MD
- Anthony Fernandez, MD, PhD, who is a dermatologist with an interest in autoimmune skin disease with a special interest in scleroderma
- Donald Kirby, MD, Scott Gabbard, MD, Abdullah Shatnawei, MD, all gastroenterologists with special interests in the gastrointestinal complications of scleroderma
- Mark Hendrickson, MD, who is a plastic surgeon who specializes in the hand. He does sympathectomies and is a resource for refractory digital ulcers and other hand issues.
- James Simon, MD, is a nephrologist who has an interest in scleroderma renal disease
Georgia girl: I was diagnosed in 2010. I had difficulty breathing and had my lungs washed. They found lots of scarring and a glass-like substance (I have never smoked). I still have problems breathing off and on (the only relief I get sometimes is by leaning forward), but pass my breathing tests (I have asthma inhalers that help take the edge off but I have not been diagnosed with asthma). Now my doctor has stopped being aggressive in this area. What else is available to help, or what tests can I request to get the help I need with my lungs?
Kristin_Highland,_MD: It sounds like you have interstitial lung disease (pulmonary fibrosis). This can be a common problem in scleroderma. The first step is to make sure that any esophageal (reflux) disease is optimally controlled. Immunosuppressive therapy can help stabilize and/or improve lung function. The most commonly used agents are mycophenolate (CellCept) or cycylophosphamide (Cytoxan). There are often clinical trials studying other agents for scleroderma-associated interstitial lung disease. It is also important to screen for potential pulmonary hypertension, another common pulmonary complication in scleroderma that can cause shortness of breath. This can be done with an echocardiogram and confirmed with a right heart catheterization.
pdipanfilo: What causes shortness of breath in scleroderma?
Kristin_Highland,_MD: There are multiple potential causes of shortness of breath in patients with scleroderma. These include:
- Interstitial lung disease (pulmonary fibrosis, scarring of the lungs) -- This can be caused by inflammation in the lungs or by recurrent aspiration if there is severe gastrointestinal involvement. Both cyclophosphamide (Cytoxan, oral or IV) and mycophenolate (CellCept, oral) have been used to improve/stabilize lung function. Interstitial lung disease is also frequently the subject of clinical trials in scleroderma. It is equally important to aggressively treat gastroesophageal reflux disease (GERD) in order to prevent aspiration.
- Pulmonary hypertension (high blood pressure in the lungs) -- There are a number of mechanisms in scleroderma that can cause pulmonary hypertension. If it is determined that the cause is pulmonary ARTERIAL hypertension (PAH), then prostanoids (oral, inhaled, subcutaneous or IV) can be helpful, as well as other PAH therapies. The echocardiogram is a screening test for pulmonary hypertension, but a right heart catheterization is required to make this diagnosis.
- Left heart disease, such as diastolic dysfunction (stiff heart), systolic dysfunction (weak heart), valvular heart disease or even coronary artery disease
- Muscle weakness and deconditioning
bas: Is a lung transplant possible for a patient with scleroderma? Her heart is still healthy. Also, can I, her daughter, be a possible living donor candidate?
Kristin_Highland,_MD: Lung transplantation is an option for some patients with scleroderma. Many transplant programs shy away from scleroderma because of the concern of esophageal dysfunction and aspiration, causing potential damage to the new lungs. However, there are a number of centers (including Cleveland Clinic) that are willing to do carefully selected scleroderma patients.
The way organs are allocated is much better than it used to be. No longer does someone have to wait years on a list. Instead, patients are given points based on how sick they are, so very sick patients can move to the top of this list and often get lungs fairly quickly. Therefore, there is less interest in the living donor option, which is only done in extremely rare scenarios and I think only at one or two centers. It generally is considered too high risk for both patients.
WN: My mother had scleroderma of her lungs. Is this hereditary?
Kristin_Highland,_MD: Autoimmunity can run in families. For example, one person might have scleroderma but another might have lupus and another might have thyroid disease. However, the risk is only slight. There is one exception in that the prevalence of scleroderma in the Choctaw Native Americans who originally settled in Oklahoma is quite increased. It is important that you share your family history with your physicians.
butterflybus: I am a 43-year-old female with a positive Scl-70, Renaud’s, aching joints and severe peeling on my right foot, and I am now getting small white bumps on my hands. Fatigue is also a big problem. Each day, my skin gets harder and harder, and I can see blood vessels where I have never seen them before. I went to my doctor, and he doesn't know what it is. What can you tell me?
Kristin_Highland,_MD: Regarding the positive Scl-70, that puts you at an increased risk of lung disease (pulmonary fibrosis) and diffuse skin disease, as well as scleroderma renal crisis. Lung disease can be treated with immunosuppressive therapy. Renal disease can be treated with ACE inhibitors (a type of blood pressure pill). The white bumps sound like calcinosis. In general, I would avoid surgery (with some exceptions), as wound healing can be a problem. The blood vessels that you see are called telangiectasias. There is no real treatment for them. Joint pain/arthritis is a common symptom, which can sometimes be helped with immunosuppressive therapy, as can severe skin disease. With time, skin often softens as part of the course of the disease. Fatigue is often a symptom of scleroderma. It might be worthwhile having a sleep study to evaluate the quality of your sleep and to exclude sleep-disordered breathing.
jewle: I am a 43-year-old woman. I have peeling skin on the bottom of my feet. Today, I woke up with a big, purple-pink bruise on my wrist. I ache and am so tired even with taking iron and B12. I was told I do have the Scl-70 antibodies. No one seems to know what this is and I get a run-around? I am so confused.
Kristin_Highland,_MD: Unfortunately, fatigue and pain are often part of the scleroderma disease. Depending upon the cause, there may be treatments that can help. Regarding the Scl-70 antibodies, this places you at some increased risk for lung disease (interstitial lung disease, pulmonary fibrosis), diffuse skin disease and even renal crisis. We would be more than happy to see you here at Cleveland Clinic.
Soumya_Chatterjee,_MD,_MS,_FRCP: There are various treatments available that are custom-designed based on the diagnosis and severity of the problem. You should not guess before a formal evaluation.
Prevention & Treatment
egarza: I have a two-fold question: How successful are redo sympathectomies? I have already had two on each hand. I am told I would need another, but first underwent three rounds of Botox, which helped very little. Prior to doing a third sympathectomy, my hand surgeon is considering fat grafting for which I will be his first patient. Have you heard of the success rate with grafting, and does it last longer than Botox?
Soumya_Chatterjee,_MD,_MS,_FRCP: I am not aware of fat grafting of fingers. Sympathectomies can only provide temporary benefit, and it is not a very common procedure performed at Cleveland Clinic.
hkeyes: My sister-in-law has CREST syndrome and the doctors have given up on her. I want to know if there is anything we can do to help her get better? I don't want to see her give up.
Kristin_Highland,_MD: Your sister-in-law should be seen at a scleroderma center. We would be happy to see her at Cleveland Clinic. There are often things that can be done to help with quality of life.
butterflybus: Is there anything to help with fatigue and pain in the joints?
Soumya_Chatterjee,_MD,_MS,_FRCP: Fatigue in scleroderma can be a result of multiple complications, and the management will depend on which of these complications is contributing most, such as anemia, thyroid disease, sleep apnea, Sjogren’s syndrome. It is important to discuss this with your rheumatologist, who can figure out the cause of your fatigue and help address it.
Joint pain can be a result of inflammatory arthritis. If this is the case, we have medications that are available to control it, and again this should be assessed by the physician before a decision can be made. Joint pain can also be a result of mechanical damage to the joints along with central pain from concomitant fibromyalgia. Hence, the management of joint pain will depend on the cause of it in any patient.
Turtletree: Are there exercise modes or particular nutritional or other preventive practices that have been shown to keep people with CREST from developing lung and renal involvement?
Kristin_Highland,_MD: It is always important to keep up with your age-related health maintenance, such as mammograms, Pap smears, colonoscopies, etc. A healthy diet is important, as is maintaining your ideal body weight. If you suffer from pulmonary hypertension, adhering to a low-salt diet is also important. There are no specific supplements that have been shown to help in scleroderma. If you are able, maintaining an exercise routine is also important. (This could just be a walking regimen and light weights.) Referral to a physical therapist or pulmonary rehab program can also be very helpful.
MarMar: I am beginning to find calcinoses on my face and my fingertips. Does this always lead to ulcers, and is there anything I should be doing to prevent them from getting worse?
Kristin_Highland,_MD: Calcinosis does not always lead to ulcers, but it can. Unfortunately, there is no current therapy that helps with calcinosis. The most important precaution is to avoid any trauma to the affected areas.
email@example.com: Why does your gut feel funny sometimes?
Soumya_Chatterjee,_MD,_MS,_FRCP: Gastrointestinal involvement can be very varied in scleroderma. It can be anything from poorly controlled acid reflux disease to dysmotility of the esophagus – causing swallowing problems – to slow motility in the stomach (gastroparesis) – causing bloating and feeling full after a small meal – to constipation or episodic diarrhea from bacterial overgrowth.
egarza: I have a very severe problem with acid reflux and take Prilosec and Carafate, but I was informed by two physicians that Prilosec could contribute to osteoporosis. Due to my concern, my GI physician ordered a DEXA scan, and the results confirmed osteoporosis in my pelvic bones that was not there a year ago. He is now suggesting Botox. Do you know what the side effects are of Botox in the GI tract? Botox to my hands makes my fingers so weak that I drop things. I cannot do fine motor skills or turn the key to the car ignition. This side effect lasts about four weeks and eventually tapers off. I'm wondering what to expect with Botox to my gastrointestinal system.
Soumya_Chatterjee,_MD,_MS,_FRCP: Botox is used for achalasia of the esophagus, but has not been a proven therapy in scleroderma in the esophagus. Osteoporosis can occur in scleroderma patients with and without Prilosec. The benefit of a proton pump inhibitor far outweighs the risk. If Prilosec is not used, ulcerative esophagitis can develop, which could lead to stricture formation or Barrett's esophagus. So, the benefits are much higher than the controversial and unlikely possibility of severe osteoporosis.
egarza: I am starting to feel what I believe are vasospasms at the tip of my tongue where, out of nowhere, the very tip turns white and it hurts. (It feels like I bit my tongue.) I also feel the same thing on my two big toes. Is this related to my scleroderma? I am already on Revatio, Norvasc and Lipitor for circulation.
Kristin_Highland,_MD: Raynaud phenomenon (vasospasms) is not just limited to the fingers. It frequently involves the toes and can include the ears, nose, tongue, nipples. It sounds like you are on a good regimen. I would see if you can maximize the doses of the Revatio and Norvasc. Also, I would make sure that you are on a baby aspirin. Other drugs that sometimes can be helpful are pentoxyfylline (Trental), ACE inhibitors (another type of blood pressure medication) and SSRIs (antidepressants such as Prozac). It is important to keep your entire body as warm as possible and to avoid stress. Exposure to excessive vibration can also be a trigger.
egarza: I am a 54-year-old female. It has been 10 years since being diagnosed with scleroderma. I know this disease is not curable, but I have to wonder what's next in terms of my very bad circulation in my fingertips, toes and now the tip of my tongue. I have had five sympathectomies (different hands), along with three rounds of Botox. I am currently taking Viagra and an antihypertensive. Are there other options available? The Botox only seemed to work one time, and I feel like my next stop is amputation if the peeling and ulcers do not get better.
Soumya_Chatterjee,_MD,_MS,_FRCP: You can consider medical treatment with continuous IV alprostadil or IV epoprostenol for five days.
egarza: I have also started feeling painful vasospasms on the very tip of my tongue as well as my toes. When this occurs, both turn white. Could this also be related to scleroderma and circulatory issues? If so, what can be done for this?
Soumya_Chatterjee,_MD,_MS,_FRCP: This can be tongue Raynaud's. The medications sildenafil or tadalafil can be tried for this.
Sol: What research is currently being pursued? Are there any new medications or treatments? Clinical trials?
Kristin_Highland,_MD: The best resource for clinical trials in scleroderma is clinicaltrials.gov.
Anon32: Cleveland Clinic conducted studies with CREST patients who have calcinosis in their fingers. They involved using DMSO to lessen crystallization and dissolve existing crystals, as well as to dissolve collagen and return skin to a more normal state. Dr. Jacobs in Oregon later used a protocol with MSM (DMSO2) topically, orally and by IV. He believed this was even more effective than DMSO. In the past decade, Dr. Grases has conducted rat studies in which IP6 cream had some efficacy in impeding crystallization and slowly clearing the burden of prior existing calcium deposits. Are you aware of protocols that combine DMSO or MSM with IP6 (or IP6 combined with inositol, which Dr. Shamsuddin believes is more effective)? What other supplements are you aware of that help clear and prevent formation of calcium deposits in fingers?
Soumya_Chatterjee,_MD,_MS,_FRCP: I am not aware of protocols that combine DMSO or MSM with IP6 (or IP6 combined with inositol). Regarding your question about other supplements that help clear and prevent formation of calcium deposits in fingers, you can consider sodium thiosulfate topically or intravenously (IV).
Winter70: Do you feel optimistic about the Pittsburgh University Hospital's research into the E4 peptide or the Michigan State University Hospital's “Flipping the Switch” research?
Soumya_Chatterjee,_MD,_MS,_FRCP: I do. However, it is too early at this point to know what the results of human studies are likely to show.
jleenora: I am a 62-year-old female with scleroderma. I would like to know if the study at Michigan State is using a pill or an infusion. If it is in the process of trials, how does someone enter a trial?
Soumya_Chatterjee,_MD,_MS,_FRCP: At this time, this is only an animal study (in mice). It has to go through Phase I, Phase II and Phase III clinical trials. At that time, volunteers will be recruited nationally, and you will then hear about it.
glow: Do you know of any reliable research on using essential oils to help with symptoms of scleroderma/CREST/Sjogren’s?
Kristin_Highland,_MD: I am not aware of any. Regarding research, clinicaltrials.gov is always a useful site to search. Be careful with supplements, as there is the risk of drug-drug interactions. Review anything you think about taking with your physician.
swamimami: Could you explain what left heart diastolic dysfunction is and how it is treated?
Kristin_Highland,_MD: Diastolic dysfunction means that the heart has become stiff so it does not open as easily to allow blood in. This occurs as part of the normal aging process. This is also common in patients with high blood pressure (hypertension), and it is also commonly seen in scleroderma patients. If someone has diastolic dysfunction, their blood pressure needs to be well-controlled. A low-salt diet is imperative. Weight loss for those overweight to achieve ideal body weight is also very helpful.
ssreichard: I am a nurse caring for a patient with scleroderma. She is currently advanced to a stage where she requires TPN for her nutrition. She has been having many complications related to venous access that are unusual/atypical. In your experience, have you seen the veins become unable to handle typical flow rates, have increased venospasm or any other changes that would set the scleroderma patient mechanically outside the norms for venous access? For example, she has had excellent blood return, but flushing of the line is stiff or difficult at the same time. At the end of her infusions by IV pump, there is often more volume left in the IV bag than the expected overfill.
Soumya_Chatterjee,_MD,_MS,_FRCP: With diffuse scleroderma, IV access can be difficult and flow can be impaired. This is not unusual.
masm: I have read Dr. Mayes’ book several times. However, it is now eight years old. Is she or anyone else working on an updated version?
Kristin_Highland,_MD: Dr. Mayes is certainly a well-known expert in scleroderma. I do not know if she is updating her book. You can get updated patient information from the National Scleroderma Foundation. They update their educational materials yearly.
Moderator: I am sorry to say that our time with Dr. Chatterjee and Dr. Highland is now over. Thank you for sharing your expertise and time to answer questions today.
Kristin_Highland,_MD: Thank you for your questions today.
Soumya_Chatterjee,_MD,_MS,_FRCP: It was nice to have chatted with you all this afternoon!
We at Cleveland Clinic will be happy to see you here, complete a comprehensive evaluation, involve appropriate specialists relevant in your particular case and provide you the most current, evidence-based care that will be suitable for you. You should be your own health advocate.
To make an appointment with Soumya Chatterjee, MD, or any other specialist in the Department of Rheumatic and Immunologic Diseases at Cleveland Clinic, please call 216.444.5632 or 800.223.2273 ext 45632. You can also visit us online at clevelandclinic.org/rheum.
To make an appointment with Kristin Highland, MD, or any other specialist in the Respiratory Institute, call 216.444.6503,or visit clevelandclinic.org/respiratory.
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