Abstract
IntroductionMucopolysaccharidosis VI (MPS VI) is an inherited lysosomal storage disease caused by a mutation of the gene for arylsulfatase B (ASB). Of the thirty-one patients registered in Germany, almost fifty percent have a Turkish migration background. MPS VI is treated by enzyme replacement therapy (ERT), which is time-consuming and expensive.MethodsThis interdisciplinary study explored the illness perceptions and clinical treatment experiences among ten MPS VI patients with a Turkish migration background in two centers for metabolic diseases (Berlin and Mainz, Germany). The clinical treatment situation was observed and semi-structured interviews were conducted with patients and health care personnel, in addition to participatory observation in four patients' everyday environments in Berlin. The data from the interviews, patient records, and personal field notes were encoded, cross-related, and analyzed.ResultsPatients' acknowledgement of the disease and coping strategies are influenced predominantly by the perception of their individual health status and the handling of the disease within their family. Patients' willingness to cooperate with treatment strategies is further modified by their knowledge of the disease and the relationships with their health care providers. In this analysis, cultural factors turned out to be marginally relevant.ConclusionAs with other chronic and debilitating diseases, effective treatment strategies have to reach beyond delivering medication. Health care providers need to strengthen the support for patients with a migration background. In this regard, they should respect the patients' cultural and social background and their personal perception of the disease and the therapy. Yet structural and social aspects (clinical setting, family and educational background) may be more crucial here than “cultural barriers.”
Highlights
Mucopolysaccharidosis VI (MPS VI) is an inherited lysosomal storage disease caused by a mutation of the gene for arylsulfatase B (ASB)
Mucopolysaccharidosis VI (MPS VI) is an inherited lysosomal storage disease (LSD) caused by a mutation of the arylsulfatase B (ASB) gene that results in reduced activity of the enzyme ASB
We focused on the following issues: i) What are patients’ understandings of and knowledge about MPS VI and how do they experience enzyme replacement therapy (ERT)?
Summary
Mucopolysaccharidosis VI (MPS VI) is an inherited lysosomal storage disease caused by a mutation of the gene for arylsulfatase B (ASB). Of the thirty-one patients registered in Germany, almost fifty percent have a Turkish migration background. Mucopolysaccharidosis VI (MPS VI) is an inherited lysosomal storage disease (LSD) caused by a mutation of the arylsulfatase B (ASB) gene that results in reduced activity of the enzyme ASB. The prevalence is estimated to be 1100 patients worldwide [6] [7]. Between 1980 and 1995 thirty-one cases were registered in Germany. About fifty percent were patients with a Turkish migration background [8]. The high prevalence in the Turkish population is due to consanguinity, i.e
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