What is scleroderma or systemic sclerosis?
Scleroderma is a generalised autoimmune disease that causes tightening and thickening of the connective tissue (sclerosis). Systemic sclerosis usually involves the skin, but sometimes it also affects the gastrointestinal tract, the lungs and the kidneys. At the same time a narrowing of the small blood vessels takes place. Because the hardening of the skin is the most typical symptom of the disease, it is called 'scleroderma'. Since the disease also affects internal organs, the name 'systemic sclerosis' is more precise.
Who can get scleroderma?
Scleroderma is a rare disease. According to a recent study, 2 to 16 new cases per 1.000.000 inhabitants are reported each year. The estimated overall occurrence is between 28 and 253 per 1.000.000 and women are three to six times more likely to get scleroderma than men. It mostly develops between the age of 40 and 50. In less than 10% of the patients the onset of the disease is under the age of 20. It is very rare in children.
Cause and heredity
The exact cause is unknown. Heredity studies point at the existence of a hereditary susceptibility for the disease, but results differ according to the place where the study was performed. Such studies are hard to make since scleroderma is very rare. Certain materials and products are believed to provoke scleroderma or similar diseases. PVC (polyvinyl chloride) has such a reputation.
Onset and evolution
Basically, scleroderma starts with Raynaud's phenomenon or the swelling of the fingers, sclerodactyly (hardening and dryness of the fingers) or joint pain. Raynaud's phenomenon is the turning pale of the fingers. This reaction can last a few minutes till a few hours and is mostly followed by a painful redness of the fingers. It can be triggered by cold, but appears also in response to nervousness, stress or certain products like coffee. The visible symptoms (fingers, hands, entire skin) appear in three phases. In the first phase (oedematous phase), the affected part is swollen and most clearly on the hands and fingers. Later on, the swelling decreases and the skin tightens and thickens (sclerotic phase). If these symptoms become worse, the patient is in the third phase, called the atrophic phase. At very rare occasions do swallowing difficulties, shortness of breath or a general malaise occur as the first symptom. The progress of the disease varies according to the degree of involvement of internal organs. More generalised types of scleroderma with considerable skin involvement in general have less favourable prospects compared to the more localised types. Severe lung or kidney involvement may influence the disease evolution negatively and lead to untimely death.
Diagnosis
Based on complaints and symptoms, sometimes supported by lab test results. The latter, however, may be normal in some patients. Important is the early diagnosis of Raynaud's phenomenon. If the patient already suffered from it during childhood, it is not important. It need not be mentioned that the diagnosis of localised types of scleroderma is based on the injuries. As soon as the doctor suspects the diagnosis, additional examinations like lung function tests, heart check-up, examination of the kidneys and blood pressure need to be carried out. In case of muscle pains or nerve pains an electromyography and oesophageal manometry (pressure measurement) in case of swallowing difficulties are necessary. The results from these examinations may also contribute to a diagnosis.
Different types of scleroderma
Generalised scleroderma
Can be divided into two subgroups: Diffuse scleroderma In this type of scleroderma skin involvement mostly occurs within a year after the first signs of Raynaud's phenomenon. Patients show involvement of the limbs, face and trunk. Involvement of the lungs, kidneys, gastrointestinal tract and the heart muscle occur in the early phase, and also crepitations at the level of the tendons. 15 to 50% of these patients produce Scl 70 antibodies (also called antipopo-I antibodies) CREST syndrome Involvement of the skin is mostly limited to the fingers. Raynaud's phenomenon usually appears 10 to 15 years earlier. Skin involvement is limited to the extremities, sometimes to the face and forearms. Involvement of internal organs occurs mostly later on. Occasionally the CREST syndrome affects internal organs very seriously. Approximately 30% of the patients produce antibodies against anticentromere antibodies. The acronym CREST stands for Calcinosis (deposition of calcium salts), Raynaud's phenomenon, o(E)sophageal dysfunction, Sclerodactyly (skin on hands and fingers becomes hard and dry), Telangiectasia (small reddish spots). To diagnose the CREST syndrome, all symptoms must not be present.
Localised scleroderma
Affects mainly the skin. Although occasionally immunological abnormalities are found, it usually does not cause internal involvement or evolve into generalised scleroderma. Morphea (limited to the skin of the neck, trunk and the extremities), scleroderma gutata (spotted) and linear scleroderma are the most important types. Occasionally Raynaud's phenomenon, polyarthritis, polymyositis, Sjogren's syndrome, involvement of the lungs, kidneys or gastrointestinal tract are described in localised scleroderma. Rarely does localised scleroderma develop into the systemic form of the disease.
Treatment
General guidelines: Smoking should be forbidden Regular exercise, massage and heat Protection of the skin and hands against cold Avoid drugs that interfere with the blood flow
Important medication
D-Penicillamine
This drug is supposed to slow down the evolution of scleroderma. It should be taken for a long time and it works very slowly. Therefore, it is not systematically prescribed and only used to treat the more severe forms of scleroderma.
Corticosteroids
Sometimes necessary to treat flares of inflammation (especially in the early phase), together with swelling of the joints, skin or fingers or inflammation of the muscles or lungs.
Colchicine
Is believed to slow down the production of collagen (collagen is the supportive protein of the connective tissue and cartilage) in the skin. The results of this drug have been insufficiently proved.
Interferon gamma
Also slows down the production of collagen. The first results are positive, but further research is necessary. A whole range of medications can be taken to improve the blood flow. Some can be taken daily, with varying results and are relatively well tolerated. Others are injected IV (intravenously) in critical situations. (prostaglandins)
Treatment of high blood pressure due to kidney involvement
Until a few years ago, this blood pressure remained untreatable and often had a fatal outcome. Some new hypertensives, however, have shown good results.
Scleroderma and pregnancy
This problem occurs rarely since scleroderma mostly develops between the age of 40 and 50. Basically, pregnancy should not be a problem with people with scleroderma. Only in severe early forms of scleroderma should pregnancy be avoided given the risk of pregnancy toxicosis caused by kidney involvement. Reduced flexibility of the neck of the womb or vagina, which may complicate the delivery, also needs to be taken into account. Low birth weight is to be expected.
Signs and complaints that need immediate medical attention
flares of fever sudden coughing, also dry coughing general feeling of being ill quickly increasing muscle weakness increasing shortness of breath little injuries on the fingers or toes internal abdominal pain or chest pain increase in blood pressure