Scleroderma is a chronic disease characterized by excessive deposits of collagen in the skin or other organs. The localized type of the disease, while disabling, tends not to be fatal. Diffuse scleroderma or systemic sclerosis, the generalized type of the disease, can be fatal as a result of heart, kidney, lung or intestinal damage.[1]
Signs and symptoms
[edit] Skin symptoms
Scleroderma affects the skin, and in more serious cases it can affect the blood vessels and internal organs. The most evident symptom is the hardening of the skin and associated scarring. Typically, the skin appears reddish or scaly. Blood vessels may also be more visible. Where large areas are affected, fat and muscle wastage will weaken limbs and affect appearance.
The seriousness of the disease varies hugely between cases. The two most important factors to consider are the level of internal involvement (beneath the skin) and the total area covered by the disease. For example, there have been cases where the patient has no more than one or two lesions, perhaps covering a few inches. Less serious cases tend not to involve the internal bodily functions.
There is discoloration of the hands and feet in response to cold. Most patients (over 80%) have Raynaud's phenomenon, a vascular symptom that can affect the fingers and toes.
Systemic scleroderma and Raynaud's can cause painful ulcers on the fingers or toes which are known as digital ulcers.
Calcinosis is also common in systemic scleroderma, and is often seen near the elbows, knees or other joints.
[edit] Other organs
Diffuse scleroderma can cause musculoskeletal, pulmonary, gastrointestinal, renal and other complications.[1]Patients with larger amounts of cutaneous involvement are more likely to have involvement of the internal tissues and organs.
- Musculoskeletal
The first joint symptoms that patients with scleroderma have are typically non specific joint pains, which can lead to arthritis, or cause discomfort in tendons or muscles.[1] Joint mobility, especially of the small joints of the hand, may be restricted by calcinosis or skin thickening.[2] Patients who have progressed later in their disease may develop muscle weakness, or myopathy, either from the disease, or its treatments.[3]
- Lungs
Some impairment in lung function is almost universally seen in patients with diffuse scleroderma on pulmonary function testing;[4] however, it does not necessarily cause symptoms, such as shortness of breath. Some patients can develop pulmonary hypertension, or elevation in the pressures of the pulmonary arteries. This can be progressive, and lead to right sided heart failure. The earliest manifestation of this may be a decreased diffusion capacity on pulmonary function testing.
Other pulmonary complications in more advanced disease include aspiration pneumonia, pulmonary hemorrhage and pneumothorax.[1]
- Digestive tract
Diffuse scleroderma can affect any part of the gastrointestinal tract.[5] The most common manifestation in the esophagus is reflux esophagitis, which may be complicated by peptic stricturing, or benign narrowing of the esophagus.[6] This is best initially treated with proton pump inhibitors for acid suppression,[7] but may require bougie dilatation in the case of stricture.[5]
Scleroderma can decrease motility anywhere in the gastrointestinal tract.[5] The most common source of decreased motility involvement is the esophagus and the lower esophageal sphincter, leading to dysphagia and chest pain. As Scleroderma progresses, esophageal involvement from abnormalities in decreased motility may worsen due to progressive fibrosis (scarring). If this is left untreated, acid from the stomach can back up into the esophagus causing esophagitis, and GERD. Further scarring from acid damage to the lower esophagus many times leads to the development of fibrotic narrowing, also known as strictures which can be treated by dilitation, and Barrett's esophagus. The small intestine can also become involved, leading to bacterial overgrowth and malabsorption, of bile salts, fats, carbohydrates, proteins, and vitamins. The colon can be involved, and can cause pseudo-obstruction or ischemic colitis.[1]
Rarer complications include pneumatosis cystoides intestinalis, or gas pockets in the bowel wall, wide mouthed diverticula in the colon and esophagus, and liver fibrosis. Patients with severe gastrointestinal involvement can become profoundly malnourished.[6]
Scleroderma may also be associated with gastric antral vascular ectasia (GAVE), also known as watermelon stomach. This is a condition where atypical blood vessels proliferate usually in a radially symmetric pattern around the pylorus of the stomach. GAVE can be a cause of upper gastrointestinal bleeding or iron deficiency anemia in patients with scleroderma.[6]
- Kidneys
Renal involvement, in scleroderma, is considered a poor prognostic factor and not infrequently a cause of death in patients with scleroderma.[8]
The most important clinical complication of scleroderma involving the kidney is scleroderma renal crisis. Symptoms of scleroderma renal crisis are malignant hypertension (high blood pressure with evidence of acute organ damage), hyperreninemia (high renin levels), azotemia (kidney failure with accumulation of waste products in the blood) and microangiopathic hemolytic anemia (destruction of red blood cells).[9] Apart from the high blood pressure, hematuria (blood in the urine) and proteinuria (protein loss in the urine) may be indicative.[10]
In the past scleroderma renal crisis was almost uniformily fatal.[11] While outcomes have improved significantly with the use of ACE inhibitors[12][13] the prognosis is often guarded, as a significant number of patients are refractory to treatment and develop renal failure. Approximately 10% of all scleroderma patients develop renal crisis at some point in the course of their disease.[14] Patients that have rapid skin involvement have the highest risk of renal complications.[14]
Treatments for scleroderma renal crisis include ACE inhibitors, which are also used for prophylaxis,[14][13] and renal transplantation. Transplanted kidneys are known to be affected by scleroderma and patients with early onset renal disease (within one year of the scleroderma diagnosis) are thought to have the highest risk for recurrence.[15]
[edit] Diagnosis
Diagnosis is by clinical suspicion, presence of autoantibodies (specifically anti-centromere and anti-scl70/anti-topoisomerase antibodies) and occasionally by biopsy. Of the antibodies, 90% have a detectable anti-nuclear antibody. Anti-centromere antibody is more common in the limited form (80-90%) than in the systemic form (10%), and anti-scl70 is more common in the diffuse form (30-40%) and in African-American patients (who are more susceptible to the systemic form).[16]
In 1980 the American College of Rheumatology agreed upon diagnostic criteria for scleroderma.[17]
There are three major forms of scleroderma: diffuse, limited (CREST syndrome) and morphea/linear. Diffuse and limited scleroderma are both a systemic disease, whereas the linear/morphea form is localized to the skin. (Some physicians consider CREST and limited scleroderma one and the same, others treat them as two separate forms of scleroderma.) There is also a subset of the systemic form known as "systemic scleroderma sine scleroderma", meaning the usual skin involvement is not present.
[edit] Diffuse scleroderma
Diffuse scleroderma (progressive systemic sclerosis) is the most severe form - it has a rapid onset, involves more widespread skin hardening, will generally cause much internal organ damage (specifically the lungs and gastrointestinal tract), and is generally more life threatening.
[edit] Limited scleroderma/CREST syndrome
The limited form is much milder: it has a slow onset and progression, skin hardening is usually confined to the hands and face, internal organ involvement is less severe, and a much better prognosis is expected.
In typical cases of limited scleroderma, Raynaud's phenomenon may precede scleroderma by several years. Raynaud's phenomenon is due to vasoconstriction of the small arteries of exposed peripheries - particularly the hands and feet - in the cold. It is classically characterised by a triphasic colour change - first white, then blue and finally red on rewarming. The scleroderma may be limited to the fingers - known as sclerodactyly.
The limited form is often referred to as CREST syndrome.[18] "CREST" is an acronym for the five main features:
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