The focus here: early signs and symptoms that can point to the diagnosis.
Scleroderma is a heterogeneous disease. Multi-organ manifestations in systemic sclerosis (SSc) include vasculopathy and fibrosis of the skin and internal organs. Mortality results mainly from pulmonary, cardiac, renal, and gastrointestinal involvement.1 Early referral to a rheumatologist may prolong survival and potentially slow or prevent irreversible end-organ damage.
Scroll through the slides for an overview of this frequently undiagnosed or misdiagnosed disease.
In the US, about 276 cases occur per million population.2 Peak incidence is generally during middle age (ages 45 to 65); however, African Americans and women tend to have a younger age of onset. In addition, blacks are more susceptible to scleroderma, usually have more severe disease, and have higher rates of death. Scleroderma is more common in women than in men, with a 4:1 to 6:1 female to male ratio.
A family history of systemic sclerosis (SSc) is the strongest risk factor. The role of environmental triggers is unclear, although organic solvents and silica dust have been implicated.
Localized scleroderma is not life-threatening and is confined to the skin, underlying tissue, and occasionally underlying bone. Plaque morphea is the most common type; it consists of patchy single or multiple lesions of well-circumscribed, thickened skin.
ECG, electrocardiogram; ECHO, echocardiogram; HTN, hypertension; ILD, interstitial lung disease; PAH, pulmonary arterial hypertension; PFT, pulmonary function test; SSc, systemic sclerosis.
PAH, pulmonary arterial hypertension; SSc, systemic sclerosis.
Data from Mayes MD, Assassi S. Rheumatology. 6th ed. 2015.2
ACR, American College of Rheumatology; EULAR, European League Against Rheumatism; SSc, systemic sclerosis.
1. Saketkoo LA, Magnus JH, Doyle MK, et al. The primary care physician in the early diagnosis of systemic sclerosis: the cornerstone of recognition and hope. Am J Med Sci. 2014;347:54-63. doi: 10.1097/MAJ.0b013e3182a55d24.
2. Mayes MD, Assassi S. Classification and epidemiology of scleroderma. Rheumatology. 6th ed. 2015;2:1153-1158. Chapter 140.
3. van den Hoogen F, Khanna D, Fransen J, et al. 2013 classification criteria for systemic sclerosis: an American College of Rheumatology/European League Against Rheumatism collaborative initiative. Ann Rheum Dis. 2013;72:1747-1755. doi: 10.1136/annrheumdis-2013-204424