Clinical Manifestations

Many patients go from physician to physician looking for a definitive diagnosis because it is difficult to diagnose early. Following is a description of manifestations of systemic scleroderma (SSc) by body system in rough order of frequency.

Skin: Non-edematous, thickening and tightening of the skin over the fingers can progress through the body over weeks to months. The skin is shiny, swollen, sometimes severely itchy and dysesthetic to the touch. This is usually followed by a tight hidebound phase in which the skin is hard and may even feel like plastic. Later, the skin becomes atrophic and feels less tight, although it is still bound down to the subcutaneous tissue. Not all patients have all phases or progress through all stages.^1,5

Vascular: Raynaud's phenomenon of the hand(s), earlobes, nose and/or toes occurs early in 95 percent of patients, with coldness, numbness, and cyanotic and hyperemic color changes.^5,7

Constitutional symptoms: Severe fatigue, malaise and some weight loss are very common early in the disease. Depression and non-specific anxiety can occur pre- or post-diagnosis.⁵

GI: Estimates of GI involvement in SSc patients is 75-90 percent of all patients. There may be symptoms of GERD with and progression down the GI tract, with diarrhea and/or constipation and even pseudo-obstruction. Extraesophageal symptoms can include cough, hoarseness and aspiration. Dry mouth is a frequent symptom. It often results in severe dental problems, xerostomia and oral candidiasis with painful mouth and decreased taste.¹

Musculoskeletal: Joint pain, often without heat, swelling or redness, occurs often and may reflect the tightening of the skin over the joints or actual arthritis. These symptoms occur in up to 97 percent of patients and can include tendon friction rubs (TFR). TFRs often indicate active generalized disease.^1,5

Pulmonary: Alveolitis (in 25-90 percent of patients) leading to pulmonary fibrosis (PF) is a common complication of scleroderma that can lead to restrictive lung disease and death.¹ The onset of PF is usually within the first 3 years of disease in most patients.⁴ The 9-year survival rate of these patients is approximately 30 percent. Symptoms range from cough and shortness of breath (SOB) on exertion to SOB at rest with need for continuous oxygen. Baseline pulmonary function tests and echocardiograms should be done on the first workup and then yearly.⁵

In pulmonary arterial hypertension (PAH), pulmonary arteries that carry blood from the heart to the lungs constrict abnormally, forcing the heart to work faster and causing blood pressure within the lungs to rise to abnormally high levels, putting unusual strain on the heart. Symptoms include SOB, ankle swelling, chest pain and cyanosis of the lips. Patients should be tested with an ECG, electrocardiogram, right heart catheterization and a 6-minute walk test. Scleroderma patients can have both PAH and PF.

Cardiac: Cardiac disease can be manifested as myocardial or pericardial disease, conduction system disease or arrhythmias. Dyspnea on exertion and palpitations are among the most common symptoms.¹

Renal: Until the advent of the angiotensin-converting enzyme (ACE) inhibitors, scleroderma renal crisis (SRC) was the most severe complication of scleroderma and the most frequent cause of death. SRC is defined as a new onset of extremely high arterial blood pressure and "rapidly progressive oliguric renal failure during the course of SSc."¹ It tends to occur early and in patients with diffuse disease. It can be characterized by onset of seizures, severe headache, blurred vision or a blood pressure greater than 150/90.

Neurological: Obvious neurological problems are rare in SSc. Entrapment neuropathies, (e.g., carpal tunnel syndrome) are most common, although they occur in a small percentage of patients and are usually seen early in the disease. Occasionally, Bell's palsy or trigeminal neuralgia ("tic douloureux") are seen.^1,5

Serological changes: The following tests are useful in describing the prognosis of the two main forms of SSc, diffuse and localized, based on their cutaneous and/or internal involvement:

• Serum anti-topoisomerase, also known as SCL-70 (positive in 30 percent of diffuse SSc patients), is specific to SSc.¹

• Anticentromere antibody, also known as ACA (positive in 30 percent of SSc patients), is present in patients with localized SSc; up to 30 percent of this subgroup may have the serious complication of pulmonary arterial hypertension.¹

Psychosocial: Patients with scleroderma experience not only pain, disfigurement and fatigue, but also fear and depression. Their family members or significant others also are fearful. The unpredictability of SSc and the lack of control this engenders is one of the most difficult aspects of this disease.^1,5

Patients often experience financial troubles because they can't work, especially while they are being diagnosed. This puts added strain on the family and the couple, and can lead to familial dysfunction.¹ Studies of other chronic diseases, such as rheumatoid arthritis, demonstrate interventions aimed at the spouse or significant other benefit the patient as well.

Finally, unlike the newly diagnosed breast cancer patient, the newly diagnosed SSc patient often has never heard of the disease and feels isolated and alone. She or her friends and family surf the Internet and discover information that can be difficult to evaluate for accuracy and helpfulness. The patient often tries alternative medicine routes that at best don't bring relief and at worst have negative side effects.