Timely diagnosis improves the quality of life of those affected
Vienna (OTS) – An estimated 6,000 to 8,000 different clinical pictures are hidden behind the collective term rare diseases. Most of these diseases only affect very few people, but in total there are many. Overall, around 6 to 8 percent of the population in Europe suffer from a rare disease.[1] These are often metabolic and muscle diseases. It often takes years for those affected to receive a correct diagnosis. Before that, there is often a long ordeal. The Vienna Health Association plays an important role in the diagnosis and therapy of rare diseases. Depending on the type of illness, these are treated in the appropriate departments and specialized outpatient clinics.
New therapy for Gaucher’s disease
Thomas Stulnig, metabolism expert and head of the 3rd medical department for metabolic diseases and nephrology at the Hietzing Clinic, treats patients with Gaucher disease, a rare metabolic disease that is caused by an inherited genetic defect. Those affected lack an enzyme for fat processing. The fat molecule is mainly deposited in the liver, spleen and bone marrow of the patient and leads to organ enlargement and organ damage. Effective therapies are now available that enable patients to lead a largely normal life. On the one hand, this includes enzyme replacement therapy, which has been in use since the late 1990s. Patients are given the missing enzyme by infusion. Since 2015 there is now another treatment option with an effective substrate reduction therapy. This reduces the production of the triggering fat molecule. The body’s own enzyme production is then sufficient to break down the significantly lower amount itself. Advantage of this method: The active ingredient can be taken in tablets. “Both therapies are highly effective. The problem is that an estimated three quarters of patients in Austria are not diagnosed and as a result are not treated at all or are treated incorrectly. The disease is typically associated with an enlarged spleen and changes in the blood picture. Simple dried blood tests are now available to detect them. Doctors and patients must pay more attention to this. At the Hietzing Clinic, patients are offered both therapies,“ betont Stulnig.
Treatment success through early diagnosis of muscle diseases
In Austria, around 20,000 people live with a muscle disease, more than half of them are children and adolescents. A diagnosis of muscle disease often means a progressive loss of mobility, being dependent on a wheelchair and a reduced life expectancy.
The first causal therapies for the two most common muscle diseases – Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) – have been available for a few years. More will follow in the foreseeable future. Early diagnosis in childhood is necessary for optimal treatment success. Those affected then have access to highly specialized outpatient clinics, such as the muscle outpatient clinic in the Department of Pediatrics and Adolescent Medicine at the Favoriten Clinic. “The sooner parents suspect a muscle disease and take their child to an outpatient clinic specializing in muscle diseases, the faster individual therapy and care can be started. Ideally, this leads to a stabilization of the course of the disease with an improvement in the symptoms, but usually contributes to slowing down the course of the disease and improving the quality of life of those affected. so Prim. Univ. Prof. Dr. Günther Bernert, Medical Director of the Department of Pediatrics and Adolescent Medicine at the Favoriten Clinic.
In addition, the Vienna Center for Rare and Undiagnosed Diseases (CeRUD Vienna Center for Rare and Undiagnosed Diseases) of the Medical University of Vienna on the campus of the Vienna General Hospital is available to patients in the Vienna Health Association for the diagnosis and treatment of rare diseases. You can find more information at https://cerud.meduniwien.ac.at/
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Questions & contact:
Vienna Health Association
corporate communications
Spokesman Markus Pederiva
Tel.: +43 1 404 09-60 543
Mobil: +43 664 609 50-60 543
Markus. Faderiva@gesundheitsverbund.at
