Ask the Expert: Scleroderma
Dr. Robert Spiera, Rheumatologist and Director of the Vasculitis and Scleroderma Program at the Hospital for Special Surgery, answers readers’ questions on scleroderma.
Q1. Has there been any advancement in the treatment of scleroderma?
There have been a tremendous number of advances in the treatment of scleroderma and its complications. Much of this relates to advances in other areas of medicine relating to organ systems involved by scleroderma.
For example, the use of proton pump inhibitors has made a tremendous difference for the severe GI issues and reflux which plagues many patients with scleroderma. A problem called “scleroderma renal crisis,” which many years ago would invariably result in loss of renal function or even death, now can be treated with a class of blood pressure medications called ACE inhibitors, often with tremendous success. Pulmonary hypertension, which is a life-threatening complication seen in some patients with scleroderma, has benefited from a tremendous number of advances in the treatment of that underlying condition, and this has led to improvement in quality and sometimes even duration of life in many patients with scleroderma. Even advances in areas such as lung and/or heart transplantation have benefited patients with scleroderma. Similarly, there have been a number of blood vessel dilating medications that have been developed and have been recognized as being helpful in patients with scleroderma and Raynaud’s phenomena complicated by digital ulcers. There have also been trials demonstrating that immunosuppressive therapies can be helpful in terms of progression of lung disease in patients with scleroderma and progressive interstitial lung disease.
The question of whether there is a true “disease modifying” drug for scleroderma, however, remains a difficult one, and there are no drugs that have been unequivocally proven in controlled trials to do so. Encouragingly, there are a number of agents of interest looking at a variety of strategies including immunosuppressive strategies with drugs such as Mycophenolate or Cyclophosphamide, antifibrotic therapies with drugs such as tyrosine kinase inhibitors, and even the development of newer biologics which may hold promise in terms of treating the underlying disease. The scleroderma clinical research community has become much more sophisticated and integrative in our ability to perform the clinical trials necessary to assess these newer medications. Moreover, advances in understanding the basic underlying immune and vascular system abnormalities in scleroderma holds promise for developing newer therapies in the not too distant future.
Q2. What puts you at greater risk of developing scleroderma?
In most patients with scleroderma, there is not necessarily an underlying predisposing risk factor. There are some genetic issues which may be associated with a slightly higher risk for scleroderma, but in general scleroderma does not seem to be a strongly genetically determined disease. A host of environmental exposures have been concerning for the development of scleroderma-like illnesses, but this is relevant in only a minority of patients who ultimately develop scleroderma. Finally, smoking seems to be a risk factor for vasculopathy and worse disease expression in scleroderma, although it is not clear that it increases the risk of scleroderma per se.
Q3. How is scleroderma diagnosed?
The diagnosis of scleroderma is based on clinical features and supported by certain laboratory findings. The overwhelming majority of patients with scleroderma had Raynaud’s phenomena, a condition where upon cold exposure extremities can become whitish, bluish, or ultimately even reddish and uncomfortable. Raynaud’s phenomena, however, is common in the general population. In patients with Raynaud’s phenomena in the context of scleroderma, other findings are usually present, including changes that can be observed by an experienced clinician looking closely at the nail beds, skin changes which generally define scleroderma (the typical “hardened skin” that one would see in scleroderma), and the presence of internal organ issues. There are also blood tests that can help confirm the diagnosis of scleroderma including a positive ANA (antinuclear antibody) which is not necessarily specific for scleroderma but often present in patients with scleroderma, as well as more specific blood tests such as anti-Scl-70, anti-RNA polymerase III, or anti-centromere antibody. Ultimatelythe diagnosis is a combination of clinical and laboratory features and generally is made by an experienced clinician with some familiarity with scleroderma. A skin biopsy is usually NOT necessary to make the diagnosis.
Q4. What are the causes of scleroderma?
In most patients with scleroderma, the cause is unknown. It has been associated with a syndrome where adulterated L tryptophan resulted in a scleroderma-like illness as well as certain scleroderma-like lung diseases after exposures to certain toxins or chemotherapeutic agents such as bleomycin. Some scleroderma-like illnesses have also been associated with environmental exposures, such as an outbreak of scleroderma-like illness in Spain in people who had ingested a toxic rapeseed oil.
Q5. How can you treat scleroderma?
The treatment of scleroderma is individualized. Patients can present many different types of scleroderma, ranging from scleroderma that only minimally affects the skin to scleroderma that affects a large portion of the skin. In some patients, the skin issue is the major issue and we have used a number of medications to help prevent progression of skin thickening, although none of these medications are unequivocally proven to do so. Often, musculoskeletal restriction and contractures of the hands are a major problem in patients with scleroderma and occupational therapy and exercise goes a long way to helping those patients maintain optimal function. Most importantly, patients with scleroderma need to be educated about what organ systems should be explored for the development of involvement, and therapy ultimately would be directed at the organ systems involved. There is not a “one size fits all” approach to the treatment of scleroderma.
Dr. Robert Spiera is a rheumatologist and Director of the Vasculitis and Scleroderma Program at Hospital for Special Surgery. He is the principal investigator in several clinical trials and observational studies focusing on scleroderma and vasculitis.