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BACKGROUND AND AIMS: Management of familial hypercholesterolaemia (FH) may vary across different settings due to factors related to population characteristics, practice, resources and/or policies. We conducted a survey among the worldwide network of EAS FHSC Lead Investigators to provide an overview of FH status in different countries. METHODS: Lead Investigators from countries formally involved in the EAS FHSC by mid-May 2018 were invited to provide a brief report on FH status in their countries, including available information, programmes, initiatives, and management. RESULTS: 63 countries provided reports. Data on FH prevalence are lacking in most countries. Where available, data tend to align with recent estimates, suggesting a higher frequency than that traditionally considered. Low rates of FH detection are reported across all regions. National registries and education programmes to improve FH awareness/knowledge are a recognised priority, but funding is often lacking. In most countries, diagnosis primarily relies on the Dutch Lipid Clinics Network criteria. Although available in many countries, genetic testing is not widely implemented (frequent cost issues). There are only a few national official government programmes for FH. Under-treatment is an issue. FH therapy is not universally reimbursed. PCSK9-inhibitors are available in ∼2/3 countries. Lipoprotein-apheresis is offered in ∼60% countries, although access is limited. CONCLUSIONS: FH is a recognised public health concern. Management varies widely across countries, with overall suboptimal identification and under-treatment. Efforts and initiatives to improve FH knowledge and management are underway, including development of national registries, but support, particularly from health authorities, and better funding are greatly needed.

Článek

State of the art management practices for liver glycogen storage disorders: Results from an international survey among metabolic centres
Rossi, GSD Collaboration group

Molecular genetics and metabolism. 2025 ; 145 (3) : 109129. [pub] 20250506

Mol Genet Metab
ISSN 1096-7206
Medvik
Zdroj

BACKGROUND: Liver glycogen storage disorders (GSDs) are rare inherited disorders of carbohydrate metabolism that are clinically characterized by hepatomegaly and fasting intolerance. This group of disorders comprises GSD Ia and Ib as well as the so-called ketotic GSDs including GSD III, VI, IX, XI and 0a. Although clinical practice guidelines exist for most GSD subtypes, diagnostics, treatment and monitoring differ significantly among metabolic centres. The aim of this study was to gain insight into current clinical practice for liver GSDs. METHODS: An international web-based survey was performed among health care professionals involved in the care of individuals with liver GSDs. RESULTS: Sixty-seven respondents from 28 different countries caring for approximately 2650 liver GSD patients completed the survey. While the diagnostic approach was generally consistent, significant differences among metabolic centres are still observed with respect to monitoring parameters and treatment approaches. Reasons for these differences are local availability of management tools and treatment options, the rarity of the different GSD subtypes, the experiences of health care professionals, and the existence of extreme phenotypes. CONCLUSION: The development of a standard set of outcomes for patients with liver GSDs is warranted as a reference for both daily care and the evaluation of safety and efficacy of future therapies. For various parameters that serve as valuable outcome measures, tools and target values should be better defined.

Článek online

Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration
EAS Familial Hypercholesterolaemia Studies Collaboration; AJ. Vallejo-Vaz, A. Akram, SR.

... BACKGROUND: The potential for global collaborations to better inform public health policy regarding major ...

Atherosclerosis supplements. 2016 ; 22 (-) : 1-32. [pub] 20161207

Atheroscler Suppl
ISSN 1878-5050
Medvik
Zdroj

BACKGROUND: The potential for global collaborations to better inform public health policy regarding major non-communicable diseases has been successfully demonstrated by several large-scale international consortia. However, the true public health impact of familial hypercholesterolaemia (FH), a common genetic disorder associated with premature cardiovascular disease, is yet to be reliably ascertained using similar approaches. The European Atherosclerosis Society FH Studies Collaboration (EAS FHSC) is a new initiative of international stakeholders which will help establish a global FH registry to generate large-scale, robust data on the burden of FH worldwide. METHODS: The EAS FHSC will maximise the potential exploitation of currently available and future FH data (retrospective and prospective) by bringing together regional/national/international data sources with access to individuals with a clinical and/or genetic diagnosis of heterozygous or homozygous FH. A novel bespoke electronic platform and FH Data Warehouse will be developed to allow secure data sharing, validation, cleaning, pooling, harmonisation and analysis irrespective of the source or format. Standard statistical procedures will allow us to investigate cross-sectional associations, patterns of real-world practice, trends over time, and analyse risk and outcomes (e.g. cardiovascular outcomes, all-cause death), accounting for potential confounders and subgroup effects. CONCLUSIONS: The EAS FHSC represents an excellent opportunity to integrate individual efforts across the world to tackle the global burden of FH. The information garnered from the registry will help reduce gaps in knowledge, inform best practices, assist in clinical trials design, support clinical guidelines and policies development, and ultimately improve the care of FH patients.

MeSH
cíle organizace MeSH
data mining MeSH
hyperlipoproteinemie typ II diagnóza genetika mortalita terapie MeSH
integrované poskytování zdravotní péče * organizace a řízení MeSH
kooperační chování MeSH
lidé MeSH
mezinárodní spolupráce * MeSH
přístup k informacím MeSH
registrace * MeSH
ukládání a vyhledávání informací MeSH
výsledek terapie MeSH
výzkumný projekt * MeSH
znalostní mezera * MeSH
Check Tag
lidé MeSH
Publikační typ
časopisecké články MeSH
multicentrická studie MeSH

Článek online

Současný stav a perspektivy mezinárodní spolupráce "Cochrane Collaboration"

... Cochrane Collaboration je mezinárodní vědecko-lékařská síť, jejímž úkolem je pomoc při rozhodování lékařů ...

Medsoft .... 1998 ; () : 62-64.

ISSN 1803-8115
Medvik
Zdroj

Cochrane Collaboration je mezinárodní vědecko-lékařská síť, jejímž úkolem je pomoc při rozhodování lékařů na základě tvorby databází informací o efektivitě zdravotnických výkonů. V rámci konkrétního řešení problémů klinické praxe poskytuje nejaktuálnější objektivní informace o léčebných a diagnostických postupech, pro racionalizaci klinického testování pak představuje velmi kvalitní standardní rámec. V jednotlivých lékařských oborech tvoří účastníci spolupráce odborné skupiny, které hledají relevantní studie, analyzují jejich kvalitu a posuzují, v jakém stupni je možno výsledky publikací použít při poskytování lékařské péče.