-
Je něco špatně v tomto záznamu ?
Missed diagnosis of Fabry disease: should we screen patients with multiple sclerosis
P. Rekova, I. Kovarova, T. Uher, B. Srpova, G. Dostalova, A. Linhart, M. Vaneckova, D. Stastna
Jazyk angličtina Země Itálie
Typ dokumentu pozorovací studie, časopisecké články
Grantová podpora
MH CZ-DRO-VFN64165
Všeobecná Fakultní Nemocnice v Praze
NU22-04-00193
Ministerstvo Zdravotnictví Ceské Republiky
NLK
ProQuest Central
od 2000-01-01 do Před 1 rokem
Medline Complete (EBSCOhost)
od 2000-02-01 do Před 1 rokem
Health & Medicine (ProQuest)
od 2000-01-01 do Před 1 rokem
Family Health Database (ProQuest)
od 2000-01-01 do Před 1 rokem
Psychology Database (ProQuest)
od 2000-01-01 do Před 1 rokem
- MeSH
- diferenciální diagnóza MeSH
- dospělí MeSH
- Fabryho nemoc * diagnóza epidemiologie MeSH
- lidé MeSH
- nepoznaná diagnóza MeSH
- prospektivní studie MeSH
- roztroušená skleróza * diagnóza epidemiologie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- pozorovací studie MeSH
INTRODUCTION: Fabry disease (FD) can be undiagnosed in the context of multiple sclerosis (MS) due to similar clinical and paraclinical features. Our study aimed to determine the prevalence (and the necessity of screening) of FD among patients with possible or definite MS. METHODS: In this prospective monocentric observational study, we included consecutive patients enrolled between May 2017 and May 2019 after the first clinical event suggestive of MS. All patients underwent FD screening using dried blood spots in a stepwise manner combining genetic and enzyme testing. Patients were followed until May 2022. RESULTS: We included 160 patients (73.1% female, mean age 33.9 years). The 2017 revised McDonald's criteria for definite MS were fulfilled by 74 (46.3%) patients at the time of study recruitment and 89 (55.6%) patients after 3-5 years of follow-up. None of the patients had a pathogenic GLA variant, and four (2.5%) had a variant of unknown significance (p.A143T, p.S126G, 2 × p.D313Y). In two of these patients, the intrathecal synthesis of oligoclonal bands was absent, and none had hyperproteinorachia or pleocytosis in cerebrospinal fluid. Detailed examination of FD organ manifestations revealed only discrete ocular and kidney involvement in two patients. CONCLUSION: The prevalence of FD in the population of suspected or definite MS patients does not appear to be high. Our results do not support routine FD screening in all patients with a possible diagnosis of MS, but there is an urgent need to search for red flags and include FD in the differential diagnosis of MS.
Citace poskytuje Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc24007842
- 003
- CZ-PrNML
- 005
- 20240903112227.0
- 007
- ta
- 008
- 240412s2024 it f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1007/s10072-023-06962-y $2 doi
- 035 __
- $a (PubMed)37480392
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a it
- 100 1_
- $a Rekova, Petra $u Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czechia
- 245 10
- $a Missed diagnosis of Fabry disease: should we screen patients with multiple sclerosis / $c P. Rekova, I. Kovarova, T. Uher, B. Srpova, G. Dostalova, A. Linhart, M. Vaneckova, D. Stastna
- 520 9_
- $a INTRODUCTION: Fabry disease (FD) can be undiagnosed in the context of multiple sclerosis (MS) due to similar clinical and paraclinical features. Our study aimed to determine the prevalence (and the necessity of screening) of FD among patients with possible or definite MS. METHODS: In this prospective monocentric observational study, we included consecutive patients enrolled between May 2017 and May 2019 after the first clinical event suggestive of MS. All patients underwent FD screening using dried blood spots in a stepwise manner combining genetic and enzyme testing. Patients were followed until May 2022. RESULTS: We included 160 patients (73.1% female, mean age 33.9 years). The 2017 revised McDonald's criteria for definite MS were fulfilled by 74 (46.3%) patients at the time of study recruitment and 89 (55.6%) patients after 3-5 years of follow-up. None of the patients had a pathogenic GLA variant, and four (2.5%) had a variant of unknown significance (p.A143T, p.S126G, 2 × p.D313Y). In two of these patients, the intrathecal synthesis of oligoclonal bands was absent, and none had hyperproteinorachia or pleocytosis in cerebrospinal fluid. Detailed examination of FD organ manifestations revealed only discrete ocular and kidney involvement in two patients. CONCLUSION: The prevalence of FD in the population of suspected or definite MS patients does not appear to be high. Our results do not support routine FD screening in all patients with a possible diagnosis of MS, but there is an urgent need to search for red flags and include FD in the differential diagnosis of MS.
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a ženské pohlaví $7 D005260
- 650 _2
- $a dospělí $7 D000328
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 _2
- $a nepoznaná diagnóza $7 D000081006
- 650 12
- $a Fabryho nemoc $x diagnóza $x epidemiologie $7 D000795
- 650 12
- $a roztroušená skleróza $x diagnóza $x epidemiologie $7 D009103
- 650 _2
- $a prospektivní studie $7 D011446
- 650 _2
- $a diferenciální diagnóza $7 D003937
- 655 _2
- $a pozorovací studie $7 D064888
- 655 _2
- $a časopisecké články $7 D016428
- 700 1_
- $a Kovarova, Ivana $u Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czechia
- 700 1_
- $a Uher, Tomas $u Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czechia
- 700 1_
- $a Srpová, Barbora $u Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czechia $7 xx0321726
- 700 1_
- $a Dostalova, Gabriela $u Second Department of Internal Cardiovascular Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czechia
- 700 1_
- $a Linhart, Ales $u Second Department of Internal Cardiovascular Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czechia
- 700 1_
- $a Vaneckova, Manuela $u Department of Radiology, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czechia
- 700 1_
- $a Stastna, Dominika $u Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czechia. dominika.stastna@vfn.cz $1 https://orcid.org/0000000324184847
- 773 0_
- $w MED00005781 $t Neurological sciences $x 1590-3478 $g Roč. 45, č. 1 (2024), s. 231-239
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/37480392 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y - $z 0
- 990 __
- $a 20240412 $b ABA008
- 991 __
- $a 20240903112224 $b ABA008
- 999 __
- $a ok $b bmc $g 2081695 $s 1217609
- BAS __
- $a 3
- BAS __
- $a PreBMC-MEDLINE
- BMC __
- $a 2024 $b 45 $c 1 $d 231-239 $e 20230722 $i 1590-3478 $m Neurological sciences $n Neurol Sci $x MED00005781
- GRA __
- $a MH CZ-DRO-VFN64165 $p Všeobecná Fakultní Nemocnice v Praze
- GRA __
- $a NU22-04-00193 $p Ministerstvo Zdravotnictví Ceské Republiky
- LZP __
- $a Pubmed-20240412
