Illness Perception and Clinical Treatment Experiences in Patients with M. Maroteaux-Lamy (Mucopolysaccharidosis Type VI) and a Turkish Migration Background in Germany

Plo ckinger U (2013) Illness Perception and Clinical Treatment Experiences in Patients with M. Maroteaux-Lamy (Mucopolysaccharidosis Type VI) and a Turkish Migration Background in Germany. PLoS ONE 8(6): e66804. doi:10.1371/journal.pone.0066804 Illness Perception and Clinical Treatment Experiences in Patients with M. Maroteaux-Lamy (Mucopolysaccharidosis Type VI) and a Turkish Migration Background in Germany Hansjo rg Dilger 0 Linn Leissner 0 Lenka Bosanska 0 Christina Lampe 0 Ursula Plockinger 0 Francesc Palau, Instituto de Ciencia de Materiales de Madrid - Instituto de Biomedicina de Valencia, Spain 0 1 Institute of Social and Cultural Antropology, Freie Universita t Berlin , Berlin, Germany , 2 Centre of Excellence for Rare Metabolic Diseases, Interdisciplinary Centre of Metabolism , Campus Virchow-Klinikum , Charite -Universita tsmedizin Berlin , Berlin, Germany , 3 Department of Pediatric and Adolecscent Medicine, Villa Metabolica, University Medical Center Mainz , Mainz , Germany Introduction: 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. MPS VI is treated by enzyme replacement therapy (ERT), which is time-consuming and expensive. Methods: This 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. Results: Patients' 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. Conclusion: As 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.'' PLOS ONE | www.plosone.org - 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 incidence of MPS VI varies among different populations and geographic regions, from 1 in 238,000 (Northern Portugal) to 1 in 1,298,000 (British Columbia, Canada) [1] [2] [3] [4] [5]. The prevalence is estimated to be 1100 patients worldwide [6] [7]. Between 1980 and 1995 thirty-one cases were registered in Germany. Of these, about fifty percent were patients with a Turkish migration background [8]. MPS VI is inherited in an autosomal recessive pattern. The high prevalence in the Turkish population is due to consanguinity, i.e. intermarriage between cousins, which increases the incidence of MPS VI in families with a history of the disease [9]. The reduction of enzyme activity is variable, as is the clinical course of the disease, currently classified as rapidly or slowly progressing on the basis of their clinical phenotype and urinary glycosaminoglycan concentration. While the clinical presentation of patients with MPS VI demonstrates a continuum of signs and symptoms, a somewhat stronger genotype/phenotype correlation may be evident especially in cardiovascular manifestations [10] [11] [12]. The MPS VI phenotype comprises a severe skeletal dysplasia resulting in short stature and various bone deformations. Infiltrative cardiomyopathy and respiratory dysfunction are both due to the storage of glycosaminoglycan (GAG). Corneal opacity and atrophy of the optic nerve may result in amaurosis, and conductive and sensorineuronal hearing loss may lead to deafness. Coarse facial features, the deformation of hands and feet, as well as short stature are the visible manifestations of the disease and thus contribute to the mental distress of patients. MPS VI is not associated with cognitive impairment and is clinically heterogeneous (Table 1). There are large variations with regard to the age of onset, organ systems affected, and the severity of the disease. In addition, the rate of disease progression varies widely. Since 2006, enzyme replacement therapy (ERT, Naglazyme H) has been available for the treatment of patients with MPS VI. ERT has to be given intravenously, is generally well tolerated, and has shown to improve some aspects of MPS VI and may attenuate disease progression [13] [14]. ERT infusions take up to five hours per week. This is felt as an inappropriate burden by some patients and they fail to adhere to the treatment schedule. However, therapeutic efficacy may well depend on regular and continuous therapy. An irregular treatment schedule resulting in sub-optimal dosage may significantly reduce the drugs therapeutic efficacy, though as no biomarkers are available to estimate therapeutic efficacy, the effect of suboptimal dosage over time on the progression of the disease is difficult to estimate. In short, repeatedly missed ERT may jeopardize therapeutic efficacy and put patients at risk. The subsequent lack of positive effects from irregular ERT may also potentiate patients feeling of the treatment being cumbersome yet inefficient. In addition, within the clinical setting, patients reduced cooperation with the therapeutic schedule may become a source of potential tension between health care providers and patients. Medical professionals might perceive non-adherence to ERT as a waste of considerable health care resources for a non-cooperating patient, as well as displaying a disregard for their efforts to provide adequate care. Patients, on the other hand, may not always understand the medical importance of the treatment and the implications of missed ERT, and may thus perceive any discussion about their cooperation as unjustified. In spite of these obstacles to care, there has been no research into the illness perception and treatment experiences of patients with MPS VI and the ways in which their therapeutic experiences affect the course and acceptance of therapy. This issue may be even more importan (...truncated)