Frequency distribution
The rate of new cases is 1-2 persons per 100. 000 per year. Usually the age at the onset of the disease is 40-60 years. The incidence of the disease in the population is less than 50 per 100,000. Women are affected by a factor of 4 more frequently than men.
Symptoms of scleroderma
Scleroderma spreads primarily mostly painlessly. Occasionally muscle and joint pain occurs. The disease is difficult to diagnose, as it can have fast, slow and even stopping (in morphea) courses, as well as a wide variety of symptom compositions.
Depending on which organs are involved, different symptoms may also occur. Also because the disease is very rare, it is often not considered when unspecific symptoms occur. The early symptom of systemic scleroderma is primarily a circulatory disorder of the hands (Raynaud’s phenomenon), which can precede the disease by up to two years.
The frenulum of tongue may also be shortened. Later, water retention (initial edema), especially in the fingers, can occur for several weeks.Arms, face and trunk can be affected. During the so-called induration phase (hardening phase), which lasts several weeks and is fully developed after one to two years, the water retention decreases and the skin becomes thicker, immobile and hard as a board.
Collagen fibers have been deposited in the skin. Facial expression is more difficult (mask face), the nose becomes pointed, the mouth gets star-shaped wrinkles and becomes small (pouch mouth). The fingers lose mobility, become thin, stiff (Madonna’s finger) and are fixed in claw position.
Infection of tendon sheaths and ligaments can lead to nerve damage or carpal tunnel syndrome. In diffuse systemic scleroderma, the above-mentioned process takes place within a few weeks. Limited systemic scleroderma is slower and occurs mainly in fingers and arms.
In the variant of CREST syndrome there is calcinosis, Raynaud’s phenomenon, esophageal motility disorder, sclerodactyly and telangiectasia (for explanation see introduction). In both forms, the gastrointestinal tract is affected early in 80% of patients. Acidic belching (reflux) and its consequences (reflux esophagitis) may occur.
In addition, digestive disorders, constipation and intestinal sacculation (diverticula) may occur. The lung is the second most frequent contributor to diseases of the internal organs. The connective tissue of the lung becomes hardened (interstitial lung fibrosis).
Cardiac and renal involvement occurs mainly in the diffuse form. Most therapies are not very effective and can only slightly halt the progression of scleroderma. High-dose immunosuppressive drugs such as glucocorticoids, methotrexate, ciclospoprine A, azathioprine and chlorambucil have not been shown to have a clear benefit.
Therefore, it is now believed that the disease cannot be caused exclusively by the patient’s own immune system, otherwise these drugs would have to be effective. Drugs such as ?-interferon, thymopentin, isoretinoid, N-acetylcysteine or D-penicillamine were also not very effective. Strong side effects often force patients to stop taking the medication.
The most common therapy tried is D-penicillamine. Glucocorticoids may also be useful under certain circumstances, for example, if there is pulmonary fibrosis, edema or arthritis. Rituximab and tocilizumab, which are also used for other autoimmune diseases, occasionally show success in treatment.
Research is currently being conducted into therapies using bone marrow transplantation and blood washing (apheresis). Caution is required when measuring the success of a therapy. Often, the transition of the disease into the so-called atrophic phase, in which the water retention recedes, the skin becomes hard and contracts, looks like a regression of the symptoms.
It is mainly supportive, general measures that are particularly helpful to the patient and have a positive influence on the symptoms. Physiotherapy helps to avoid contractures. Warm hands should be provided if Raynaud’s phenomenon is present.
If wounds (ulcerations) occur on the hands, they should be well cared for. The active ingredient bosentan can be used to prevent ulcerations. If high blood pressure begins to develop as a result of the vascular changes, treatment with an ACE inhibitor is recommended. Phototherapy (PUVA) can soften the sclerotic foci and ensure better functionality.
