Systemic sclerosis: clinical features and management

Systemic sclerosis (SSc) differs from other multisystem connective tissue/autoimmune diseases in that its clinical features result mainly from a combination of fibrosis and vascular abnormality (rather than from inflammation). This has major implications for management. SSc is associated with high morbidity and mortality, and is often very painful and disabling. There are two major subtypes, defined on the basis of the extent of skin involvement: limited (often previously referred to as CREST) and diffuse cutaneous. The two subtypes have very different natural histories, autoantibody associations and prognoses, and require different approaches to management, at least in their early stages. The two most characteristic features of SSc are Raynaud's phenomenon (which can be very severe) and skin thickening (ʻsclerodermaʼ). Although both cause troublesome, often disabling symptoms, it is the internal organ involvement of the disease that can be life-threatening. This article discusses recent advances in early diagnosis, clinical features and the approach to investigation and management. It is an exciting time for clinicians with an interest in SSc, because following on from the development of new treatments for several organ-based complications (e.g. pulmonary arterial hypertension, digital ulceration), several promising ʻdisease-modifyingʼ therapies (including antifibrotics) are currently being studied in clinical trials.