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lindagray

Scleroderma Symptoms 1

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This section includes a list of possible symptoms that can occur with different forms of systemic scleroderma.  No patient will experience all of these symptoms and, even among patients who have the same specific subtype of systemic scleroderma, there is a tremendous variability in terms of which symptoms ultimately will occur and in what order.

Clinical Features – General

Scleroderma often begins with Raynaud’s phenomenon (see below) – the fingers and sometimes the toes lose circulation and turn white upon exposure to cold. Raynaud’s phenomenon usually (but not always) precedes skin changes by several months with diffuse scleroderma and often precedes skin changes by several years with limited scleroderma. Other early symptoms may be painful joints, morning stiffness, red swollen hands, fatigue, and/or weight loss. It is important to note, however, that Raynaud’s phenomenon without any underlying disease is not uncommon in the general population, especially among young women. This form of Raynaud’s is called “primary Raynaud’s.”  A key distinguishing characteristic is that with primary Raynaud’s, the anti-nuclear antibody (ANA) will normally be negative, while with Raynaud’s which accompanies scleroderma or other auto-immune disorders (secondary Raynaud’s), ANA is usually positive.  The clear majority of young women with Raynaud’s symptoms that appear in their teenage years never develop a positive ANA or any systemic damage or skin changes.  However, in a small percentage of this population, the early appearance of Raynaud’s symptoms will be followed years later by ANA becoming positive and additional scleroderma symptoms developing over time.

The first specific clinical symptom to suggest a diagnosis of scleroderma is skin thickening that begins as swelling or “puffiness” of the fingers and hands. The puffiness is usually worse in the morning and reduces later in the day, especially in early stages of the disease.  Later the skin becomes hard, shiny, and leathery. With diffuse scleroderma, these areas of hardness are widespread and typically appear on both sides of the body. In the more limited form, skin thickening is often restricted to the hands and face. Eventually, tissue loss occurs and the skin becomes more highly colored.

People with limited scleroderma usually have Raynaud’s symptoms for years (often 5 to 10 years) before other signs of scleroderma are noted. However, even the limited form can, in rare cases, present with internal organ involvement without being preceded by Raynaud’s symptoms. Patients with limited scleroderma are less likely to develop severe lung, heart, or kidney involvement than patients with diffuse disease, although these complications can occur late in the disease process. (The likelihood of developing specific complications based on antibody type is shown in Table 2.)  Many patients with limited scleroderma eventually develop a cluster of symptoms that are listed using the acronym CREST.  CREST is an acronym for calcinosis, Raynaud’s phenomenon, esophageal dysfunction, sclerodactyly and telangiectasia. Calcinosis is the abnormal accumulation of calcium salts under the skin and in many other organs. It presents as small, localized, hard masses on fingers, forearms, or other pressure points. Raynaud’s phenomenon is characterized by the intermittent loss of blood to various parts of the body – particularly the fingers, toes, nose, and/or ears after exposure to cold and causes tingling sensations, numbness, and/or pain. This can result in ulceration and necrosis of the fingertips and in some severe cases, lead to amputation of the affected digits. Dysfunction of the lower esophagus results in chronic heartburn and possible esophageal scarring. If the heartburn symptoms are not well controlled, the repeated acid exposure can eventually lead to a condition known as Barrett’s esophagus, a pre-cancerous condition. The esophagus may eventually have areas that are narrowed and swallowing may become difficult. The small intestine may also lose the ability to push food through to the large intestine leading to malabsorption and increased bacterial growth in the small intestine. Sclerodactyly, a condition in which the skin becomes thin, shiny, and bright, results in decreased function of the fingers and toes. Telangiectasia, the appearance of small blood vessels near the surface of the skin, usually on the face, hands, and in the mouth, is unsightly but not debilitating. Depending on the antibody profile for patients diagnosed with limited scleroderma, they can be at increased risk of developing kidney failure, lung fibrosis, and pulmonary artery hypertension, but these complications usually occur at a much later date than with diffuse scleroderma.

With diffuse scleroderma, there is usually a short interval (weeks or months) between the development of Raynaud’s and significant additional symptoms, and, in some cases, Raynaud’s will not be the first symptom. Relatively rapid skin changes often occur in the first few months of the disease and continue to progress over the next 2 to 3 years. This is often followed by a remission of the skin changes, and the skin either thins or sometimes returns toward normal thickness. The severe fibrosis of the skin, especially in the fingers and hands, can cause significant disability. Diffuse scleroderma can also include a wide range of potential complications, including inflammation of the muscles, swelling of the fingers and/or hands, microvascular abnormalities, gastrointestinal malfunction, lung fibrosis, pulmonary artery hypertension, progressive kidney failure, and cardiovascular problems. Internal organ involvement often occurs early in diffuse scleroderma and can be the initial presenting symptom.

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