The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers

Orphanet Journal of Rare Diseases

Violetta Christophidou-Anastasiadou¹  Ingeborg Barisic²  Rimante Cerkauskiene³  Christina Lampe⁴  Daniela Avdjieva-Tzavella⁵  Martin Magner⁶  Anna Tylki-Szymańska⁷  Zsuzsanna Almássy⁸  Goran Cuturilo⁹  Dimitrios Zafeiriou^1,10  Mira Samardzic^1,11  Maja Djiordjevic^1,12  Anna Hlavata^1,13  Ioannis Zaganas^1,14  Vasilica Plaiasu^1,15  Beata Kieć-Wilk^1,16  Zoran Gucev^1,17  Ivan Pecin^1,18 

[1] Archbishop Makarios III Hospital;Centre of Excellence for Reproductive and Regenerative Medicine, Children’s Hospital Zagreb, Medical School University of Zagreb;Clinic of Paediatrics, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University;Department of Child Neurology, Epileptology and Social Pediatrics, Centre for Rare Diseases, University of Giessen;Department of Clinical Genetics, University Pediatric Hospital;Department of Paediatrics, University Thomayer Hospital and First Faculty of Medicine, Charles University;Department of Pediatric Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute;Department of Toxicology and Metabolic Diseases, Heim Pal Children’s Hospital Budapest;Faculty of Medicine, University of Belgrade;First Department of Pediatrics, Hippokratio General Hospital, Aristotle University;Institute for Sick Children, Department of Pediatric Endocrinology and Metabolism, Medical School, University of Montenegro;Mother and Child Health Care Institute of Serbia, Medical University of Belgrade;National Institute of Children’s Diseases, Department of Paediatrics, Medical Faculty Comenius University, Centre for Inherited Metabolic Disorders;Neurogenetics Laboratory, Neurology Department, University Hospital of Heraklion, University of Crete;Regional Centre of Medical Genetics, INSMC Alessandrescu-Rusescu;Unit of Rare Metabolic Diseases, Department of Metabolic Diseases, Jagiellonian University Medical College, University Hospital;University Children’s Hospital;University Hospital Centre Zagreb, Department of Internal Medicine, Division of Metabolic Diseases, Zagreb School of Medicine;

关键词: Mucopolysaccharidoses;    Morquio A syndrome;    Southern and Eastern European countries;    Enzyme replacement therapy;    Treatment accessibility;   

DOI  :  10.1186/s13023-022-02285-x

来源: DOAJ

【 摘 要 】

Abstract Background Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by defects in genes coding for different lysosomal enzymes which degrade glycosaminoglycans. Impaired lysosomal degradation causes cell dysfunction leading to progressive multiorgan involvement, disabling consequences and poor life expectancy. Enzyme replacement therapy (ERT) is now available for most MPS types, offering beneficial effects on disease progression and improving quality of life of patients. The landscape of MPS in Europe is not completely described and studies on availability of treatment show that ERT is not adequately implemented, particularly in Southern and Eastern Europe. In this study we performed a survey analysis in main specialist centers in Southern and Eastern European countries, to outline the picture of disease management in the region and understand ERT implementation. Since the considerable number of MPS IVA patients in the region, particularly adults, the study mainly focused on MPS IVA management and treatment. Results 19 experts from 14 Southern and Eastern European countries in total responded to the survey. Results outlined a picture of MPS management in the region, with a high number of MPS patients managed in the centers and a high level of care. MPS II was the most prevalent followed by MPS IVA, with a particular high number of adult patients. The study particularly focused on management and treatment of MPS IVA patients. Adherence to current European Guidelines for follow-up of MPS IVA patients is generally adequate, although some important assessments are reported as difficult due to the lack of MPS skilled specialists. Availability of ERT in Southern and Eastern European countries is generally in line with other European regions, even though regulatory, organizational and reimbursement constrains are demanding. Conclusions The landscape of MPS in Southern and Eastern European countries is generally comparable to that of other European regions, regarding epidemiology, treatment accessibility and follow up difficulties. However, issues limiting ERT availability and reimbursement should be simplified, to start treatment as early as possible and make it available for more patients. Besides, educational programs dedicated to specialists should be implemented, particularly for pediatricians, clinical geneticists, surgeons, anesthesiologists and neurologists.

【 授权许可】

Unknown