Scleroderma is a now better known, yet very rare disease of the connective tissue, which may be due to a genetic cause as well as an autoimmune event. It belongs to the rheumatic diseases and to the group of collagenoses. It affects women four times more often than men and occurs more frequently when they reach midlife. The following article provides an overview of diagnostics, therapy and research in this field.
There are two manifestations of sclerosis. The systemic form with progressive course and organ involvement (heart, lungs, kidney, digestive tract) is distinguished from a localized (morphea) form affecting the skin and subcutaneous tissue, occasionally also muscles and bones. The linear form as a subform (circumskripte) already occurs in children as well. The local form is more common in females and has a milder course. In a few patients, the disease is also self-limiting. The local form is also known because of Raynoud’s syndrome (white finger disease), which causes paling of the fingers and toes due to vasospasm.
Diagnostically, in addition to a skin appearance recognizable even to the layman with acute edema of the fingers and subsequent atrophy of the skin tissue (described on the face as a so-called tobacco pouch mouth), a shortening of the lower lingual frenulum is noted.
The appearance of the skin is waxy following the edema phase, with the skin becoming increasingly thinner with narrow fingers (Madonna fingers) to severely deformed limbs. This is caused by microcirculatory disorders. Facial expressions are increasingly restricted by the changing connective tissue and appear mask-like.
Scleroderma spreads very variably, making early diagnosis difficult. In addition to a slow course in the local form, there is a progressive course in the systemic form, which can lead to death in a short time.
Very often, scleroderma is initially asymptomatic and without pain, but it may be accompanied by severe myalgias. The silent onset of the disease delays timely diagnosis and reduces the success of subsequent therapeutic measures.
However, the diagnosis of scleroderma is now supported by reliable laboratory parameters (autoantibodies).
Combination therapy for life extension
Since the causes are not yet clear, no cure exists. Treatment is therefore symptomatic with physiotherapy, phototherapy (UVA light), massage, lymphatic drainage and heat therapy. Avoiding exposure to cold is especially important for patients.
Bosentan has been approved to date for the prevention of digital ulceration in the systemic form and is often used in combination with other therapeutics depending on the course and organ involvement. For a long time, steroidal anti-inflammatory drugs (glucocorticoids) were considered adequate therapy, but they are used very restrictively in the systematic form because of the negative effect on renal function. Cyclophosphamide may slow progression in pulmonary involvement.
Research and competence
The few studies to date show that combination therapies with individual adaptation (personalized medicine) have the best success. Bone marrow transplantation is currently under clinical trial as a potential alternative to symptomatic therapies. Studies with interferon show a positive effect, as it suppresses the formation of new connective tissue. Switzerland does not yet have a designated competence center.
Patients can become active
The patient should be closely involved in the therapy design and can contribute a lot to the improvement. Very careful skin care with moisturizing ointments is important. Smoking should be discontinued to improve microcirculation. Exercise and moderate sports improve skin circulation and active occupations with the hands alleviate discomfort. In winter, warm baths, sauna or staying in warm regions help.
Info for doctors and patients
www.orpha.net
www.scleroderma.ch
www.sklerodermie-selbsthilfe.de
HAUSARZT PRAXIS 2015; 10(5): 8
