-
Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease? [Elektronski vir]Hughes, Derralynn A. ...Background Variable disease progression confounds accurate prognosis in Fabry disease. Evidence supports the long-term benefit of early intervention with disease-specific therapy, but current ... guidelines recommend treatment initiation based on signs that may present too late to avoid irreversible organ damage. Findings from the ‘PRoposing Early Disease Indicators for Clinical Tracking in Fabry Disease’ (PREDICT-FD) initiative included expert consensus on 27 early indicators of disease progression in Fabry disease and on drivers of and barriers to treatment initiation in Fabry disease. Here, we compared the PREDICT-FD indicators with guidance from the European Fabry Working Group and various national guidelines to identify differences in signs supporting treatment initiation and how guidelines themselves might affect initiation. Finally, anonymized patient histories were reviewed by PREDICT-FD experts to determine whether PREDICT-FD indicators supported earlier treatment than existing guidance. Results Current guidelines generally aligned with PREDICT-FD on indicators of renal involvement, but most lacked specificity regarding cardiac indicators. The prognostic significance of neurological indicators such as white matter lesions (excluded by PREDICT-FD) was questioned in some guidelines and excluded from most. Some PREDICT-FD patient-reported signs (e.g., febrile crises) did not feature elsewhere. Key drivers of treatment initiation in PREDICT-FD were: (A) male sex, young age, and clinical findings (e.g., severe pain, organ involvement), (B) improving clinical outcomes and preventing disease progression, and (C) a family history of Fabry disease (especially if outcomes were severe). All guidelines aligned with (A) and several advocated therapy for asymptomatic male patients. There was scant evidence of (B) in current guidance: for example, no countries mandated ancillary symptomatic therapy, and no guidance advocated familial screening with (C) when diagnosis was confirmed. Barriers were misdiagnosis and a lack of biomarkers to inform timing of treatment. Review of patient histories generally found equal or greater support for treatment initiation with PREDICT-FD indicators than with other guidelines and revealed that the same case and guideline criteria often yielded different treatment recommendations. Conclusions Wider adoption of PREDICT-FD indicators at a national level could promote earlier treatment in Fabry disease. Clearer, more concise guidance is needed to harmonize treatment initiation in Fabry disease internationally.Vir: Orphanet journal of rare diseases [Elektronski vir]. - ISSN 1750-1172 (17, no. 42, 2022, p. 1-15)Vrsta gradiva - e-članekLeto - 2022Jezik - angleškiCOBISS.SI-ID - 107205379
Avtor
Hughes, Derralynn A. |
Aguiar, Patrício |
Lidove, Olivier |
Nicholls, Kathleen |
Nowak, Albina |
Thomas, Mark, nefrolog |
Torra, Roser |
Vujkovac, Bojan |
West, Michael L. |
Feriozzi, Sandro
Teme
Genetske bolezni |
Genetic diseases |
Fabry disease |
guideline consensus |
renal cardiac |
neurological Patient-reported outcome treatment |
treatment initiation enzyme replacement therapy |
chaperone therap |
Fabryjeva bolezen |
smernice |
konsenz |
ledvična funkcija |
srčna funkcija |
nevrološki izvidi |
zdravljenje |
encimsko nadomestno zdravljenje |
Spremljevalna terapija
![loading ... loading ...](themes/default/img/ajax-loading.gif)
Vnos na polico
Trajna povezava
- URL:
Faktor vpliva
Dostop do baze podatkov JCR je dovoljen samo uporabnikom iz Slovenije. Vaš trenutni IP-naslov ni na seznamu dovoljenih za dostop, zato je potrebna avtentikacija z ustreznim računom AAI.
Leto | Faktor vpliva | Izdaja | Kategorija | Razvrstitev | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Baze podatkov, v katerih je revija indeksirana
Ime baze podatkov | Področje | Leto |
---|
Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
---|---|
Hughes, Derralynn A. | ![]() |
Aguiar, Patrício | ![]() |
Lidove, Olivier | ![]() |
Nicholls, Kathleen | ![]() |
Nowak, Albina | ![]() |
Thomas, Mark, nefrolog | ![]() |
Torra, Roser | ![]() |
Vujkovac, Bojan | 34761 |
West, Michael L. | ![]() |
Feriozzi, Sandro | ![]() |
Izberite prevzemno mesto:
Prevzem gradiva po pošti
Obvestilo
Gesla v Splošnem geslovniku COBISS
Izbira mesta prevzema
Mesto prevzema | Status gradiva | Rezervacija |
---|
Prosimo, počakajte trenutek.