Systemic sclerosis (scleroderma)

Those with limited cutaneous systemic sclerosis (SSc) have a better prognosis than those with the diffuse form of the disease. However, some patients with limited disease will go on to have significant visceral involvement, hence the need for vigilant monitoring. Treatment options often result in undesirable adverse effects. It can be challenging to find a balance between treatment effects and disease suppression. For this reason, treatment with immunosuppression is used under defined conditions.

Considering diffuse SSc, most patients will have an initial progressive course of skin fibrosis, followed by stabilisation and then regression. Tendon friction rubs, which may be present in early stages of diffuse disease, are a poor prognostic indicator. Patients with tendon friction rubs should be evaluated for immunosuppressive therapy, such as methotrexate, if persistent and interfering with function (e.g., ankle friction rubs interfering with ambulation).

Severe and life-threatening renal disease develops in 10% to 15% of scleroderma patients, usually, but not exclusively, in those with diffuse SSc. The risk for scleroderma renal crisis is greatest in the first 5 years of disease. ACE inhibitors should be initiated early in patients with suspicion of renal crisis and/or for the treatment of essential hypertension, to avoid irreversible kidney damage.

Symptoms of heartburn should be treated early to avoid long-term complications, including strictures and Barrett's metaplasia.

Interstitial lung disease (ILD) occurs in the first few years of disease onset and can be slowly progressive. Again, the risk is greater in diffuse rather than limited disease, but some individuals with limited skin disease can develop significant ILD. However, those with the anti-centromere antibody seldom develop progressive ILD, so it is worthwhile to keep the auto-antibody profile in mind when considering monitoring and treatment.

Pulmonary artery hypertension can occur as a late manifestation and does include those with anti-centromere antibodies as well as other SSc-specific antibodies. Patients may present with subtle complaints, including fatigue and decreased exercise tolerance. Yearly pulmonary function tests (spirometry, lung volumes, and diffusion capacity measurement) and echocardiograms should be done for surveillance. Referral for lung transplantation should be made for lung involvement (ILD or pulmonary arterial hypertension) not amenable to treatment. Survival rates in SSc following lung transplantation are similar to those with idiopathic pulmonary fibrosis and pulmonary hypertension (5-year survival 50% to 60%).[52]Schachna L, Medsger TA Jr, Dauber JH, et al. Lung transplantation in scleroderma compared with idiopathic pulmonary fibrosis and idiopathic pulmonary arterial hypertension. Arthritis Rheum. 2006 Dec;54(12):3954-61. https://www3.interscience.wiley.com/cgi-bin/fulltext/113490257/PDFSTART http://www.ncbi.nlm.nih.gov/pubmed/17133609?tool=bestpractice.com

Survival

Mean survival is about 12 years after diagnosis, but there is a wide variation in survival reflecting the heterogeneity in disease severity.[70]Mayes MD, Lacey JV Jr, Beebe-Dimmer J, et al. Prevalence, incidence, survival, and disease characteristics of systemic sclerosis in a large US population. Arthritis Rheum. 2003 Aug;48(8):2246-55. http://www.ncbi.nlm.nih.gov/pubmed/12905479?tool=bestpractice.com ​ At the milder end of the disease spectrum, survival may approach that of the general population. Data from studies using contemporary treatment approaches are not available.