Dataset Information

Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment.

ABSTRACT: Fabry disease (FD, OMIM#301500) is a rare inborn error of the lysosomal enzyme α-galactosidase (α-Gal A, EC 3.2.1.22) and results in progressive substrate accumulation in tissues with a wide range of clinical presentations. Despite the X-linked inheritance, heterozygous females may also be affected. Hemizygous males are usually affected more severely, with an earlier manifestation of the symptoms. Rising awareness among health care professionals and more accessible diagnostics have positioned FD among the most-common inherited metabolic diseases in adults. An early and correct diagnosis of FD is crucial with a focus on personalised therapy. Preventing irreversible destruction of vital organs is the main goal of modern medicine. The aim of this study was to offer a complex report mapping the situation surrounding FD patients in Slovakia. A total of 48 patients (21 males, 27 females) with FD are registered in the Centre for Inborn Errors of Metabolism in Bratislava, Slovakia. In our cohort, we have identified three novel pathogenic variants in five patients. Three patients presented with the frameshift mutation c.736delA, and two others presented with the missense mutations c.203T>C, c.157A>C. Moreover, we present a new clinical picture of the pathogenic variant c.801+1G>A, which was previously described and associated with the renal phenotype.

SUBMITTER: Jurickova K

PROVIDER: S-EPMC9224707 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature

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Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment.

Jurickova Katarina K Jungova Petra P Petrovic Robert R Mattosova Slavomira S Hlavata Tereza T Kostalova Ludmila L Hlavata Anna A

Journal of personalized medicine 20220601 6

Fabry disease (FD, OMIM#301500) is a rare inborn error of the lysosomal enzyme α-galactosidase (α-Gal A, EC 3.2.1.22) and results in progressive substrate accumulation in tissues with a wide range of clinical presentations. Despite the X-linked inheritance, heterozygous females may also be affected. Hemizygous males are usually affected more severely, with an earlier manifestation of the symptoms. Rising awareness among health care professionals and more accessible diagnostics have positioned FD ...[more]

PMID: 35743707

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Project description:IntroductionAlthough stroke patients in Slovakia had been treated according to European recommendations, no network of primary and comprehensive stroke centers had been officially established; the ESO recommended quality parameters had not been fulfilled. Therefore, the Slovak Stroke Society decided to change the stroke management concept and introduced mandatory evaluation of quality parameters. This article focuses on key success factors of the change in stroke management in Slovakia and presents the 5-year results and perspectives for the future.Material and methodsWe processed data from the stroke register at the National Health Information Center, which is mandatory in Slovakia for all hospitals designated as primary and secondary stroke care centers.ResultsSince 2016, we have started to change stroke management. New National Guideline for Stroke Care was prepared in 2017 and published in 2018 as a Recommendation of the Ministry of Health of the Slovak Republic. The recommendation included pre-hospital as well as in-hospital stroke care, a network of primary stroke centers (hospitals administering intravenous thrombolysis - 37), and secondary stroke centers (hospitals treating with intravenous thrombolysis + endovascular treatment (ET) - 6). A stroke priority was instituted, having equally high priority as myocardial infarction. More efficient in-hospital workflow and pre-hospital patient triage shortened the time to treatment. Prenotification became mandatory in all hospitals. Non-contrast CT, and CT angiography is mandatory in all hospitals. In patients with suspected proximal large-vessel occlusion the EMS stays at the CT facility in primary stroke centers until the CT angiography is finished. If LVO is confirmed, the patient is transported to an EVT secondary stroke center by the same EMS. From 2019 all secondary stroke centers offer endovascular thrombectomy in a 24/7/365 system. We consider the introduction of quality control one of the most critical steps in stroke management. The result of these activities is 25.2% of patients treated with IVT and 10.2% by endovascular treatment, and median DNT 30 min. Number of patients screened for dysphagia increased from 26.4% in 2019 to 85.9% in 2020. In the most of the hospitals the proportion of ischemic stroke patients discharged with antiplatelets and in case of AF with anticoagulants was >85%.DiscussionOur results indicate that it is possible to change stroke management at a single hospital and national level. For continuous and further improvement, regular quality monitoring is necessary; therefore, the results of stroke hospital management are presented regularly once a year at national and international level. Collaboration with the "Second for Life" patient organization is very important for the "time is brain" campaign in Slovakia.ConclusionDue to the change in stroke management over the last 5 years, we have reduced the time for acute stroke treatment and improved the proportion of patients with acute treatment, and in this area, we have achieved and exceeded the goals of the Stroke Action Plan for Europe for 2018-2030. Nevertheless, we still have many insufficiencies in stroke rehabilitation and post-stroke nursing that need to be addressed.

Dataset Information

Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment.

Publications

Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment.

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