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Clinical characteristics of patients with alpha-galactosidase A gene variants in a German multicentre cohort of early undifferentiated arthritis

Published on Mar 22, 2019in Annals of the Rheumatic Diseases14.30
· DOI :10.1136/annrheumdis-2019-215223
Stefan Vordenbäumen10
Estimated H-index: 10
(HHU: University of Düsseldorf),
Ralph Brinks14
Estimated H-index: 14
(HHU: University of Düsseldorf)
+ 2 AuthorsM. Schneider48
Estimated H-index: 48
(HHU: University of Düsseldorf)
Cite
Abstract
Fabry disease (FD) is a rare lysosomal storage disorder caused by mutations of the alpha-galactosidase A gene ( GLA ) which causes premature morbidity due to organ dysfunction following deposition of globotriaosylceramide (Gb3).1 Presenting symptoms include musculoskeletal pain such as acroparesthesias2 which often result in rheumatological consultations.3 Concerns have been raised that patients with FD are often falsely attributed with classical rheumatological diagnoses, precluding early effective treatment.3 We therefore performed GLA sequencing (Centogene, Rostock, Germany) in a multicentre national cohort of 798 patients with early undifferentiated arthritis (500 female, mean follow-up 19.5±7.4 months) (Course And Prognosis of Early Arthritis study, CAPEA,4 ethics approval 3368). Patients aged above 18 years with clinical arthritis for ≤26 weeks in ≥2 joints, or 1 joint with morning stiffness >30 min were eligible for inclusion. As detailed …
  • References (6)
  • Citations (2)
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References6
Newest
Published on Jan 1, 2019in Genetics in Medicine8.68
Hiroki Maruyama20
Estimated H-index: 20
(Niigata University),
Kaori Miyata1
Estimated H-index: 1
(Genzyme)
+ 28 AuthorsKouichiro Sugimura20
Estimated H-index: 20
(Tohoku University)
The HTML version of this Article contained errors in Supplementary Figure S2 “Flowchart of the lyso-Gb3 screening and gene analysis in female patients”, which have been detailed in the associated Correction.
Published on Nov 23, 2018in International Journal of Molecular Sciences4.18
Giovanni Duro15
Estimated H-index: 15
,
Carmela Zizzo8
Estimated H-index: 8
+ 38 AuthorsDaniele Francofonte3
Estimated H-index: 3
Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme α-galactosidase A (α-Gal A). It is an X-linked, lysosomal enzymopathy due to mutations in the galactosidase alpha gene (GLA), encoding the α-Gal A. To date, more than 900 mutations in this gene have been described. In our laboratories, the study of genetic and enzymatic alterations related to FD was performed in about 17,000 subjects with a symptomatolog...
Published on Dec 1, 2016in Orphanet Journal of Rare Diseases3.69
Malte Lenders9
Estimated H-index: 9
,
Julia B. Hennermann5
Estimated H-index: 5
(University of Mainz)
+ 14 AuthorsAnne-Katrin Giese13
Estimated H-index: 13
(University of Rostock)
Background The aim of the present study was to assess manifestations of and applied treatment concepts for females with Fabry disease (FD) according to the current European Fabry Guidelines.
Published on Jul 1, 2016in Joint Bone Spine3.28
Olivier Lidove2
Estimated H-index: 2
(French Institute of Health and Medical Research),
Valérie Zeller15
Estimated H-index: 15
+ 4 AuthorsJean-Marc Ziza20
Estimated H-index: 20
Abstract Objectives Fabry disease is a rare X-linked metabolic disorder characterized by a deficiency in the enzyme alpha-galactosidase A. Both males and females can be affected. The main presenting symptom is pain in the extremities, whereas at a more advanced stage, the manifestations include hypertrophic cardiomyopathy, cardiac dysrhythmia, proteinuria, chronic kidney dysfunction, stroke, and hearing loss. When not diagnosed and treated, Fabry disease causes early death. No studies specifical...
Published on Mar 1, 2016in Journal of Paediatrics and Child Health1.69
Rebecca James1
Estimated H-index: 1
(Royal Children's Hospital),
Davinder Singh-Grewal18
Estimated H-index: 18
(Children's Hospital at Westmead)
+ 2 AuthorsNavid Adib4
Estimated H-index: 4
(Wesley Hospital)
Abstract The lysosomal storage disorders are a collection of progressive, multisystem disorders that frequently present in childhood. Their timely diagnosis is paramount as they are becoming increasingly treatable. Musculoskeletal manifestations often occur early in the disease course, hence are useful as diagnostics clues. Non-inflammatory joint stiffness or pain, carpal tunnel syndrome, trigger fingers, unexplained pain crises and short stature should all prompt consideration of a lysosomal st...
Published on Feb 1, 2016in Zeitschrift Fur Rheumatologie0.90
K. Albrecht13
Estimated H-index: 13
,
J. Callhoff11
Estimated H-index: 11
+ 3 AuthorsA. Zink48
Estimated H-index: 48
To evaluate remission rates and therapeutic strategies in the routine care of early rheumatoid arthritis.Between 2010 and 2013, a total of 1,301 patients with early arthritis were followed by 89 rheumatologists for up to 2 years in an early arthritis cohort (CAPEA). Complete 2-year data are available for 669 patients with rheumatoid arthritis.Ninety-three percent of patients were diagnosed with a moderate or high disease activity score (DAS28 > 3.2). Within 6 months, 40 % were in clinical remiss...
Published on Dec 17, 2015in Zeitschrift Fur Rheumatologie0.90
K. Albrecht13
Estimated H-index: 13
,
J. Callhoff11
Estimated H-index: 11
+ 3 AuthorsA. Zink48
Estimated H-index: 48
Zielsetzung Analyse der Remissionsraten und Therapiestrategien bei fruher rheumatoider Arthritis unter Alltagsbedingungen
Cited By2
Newest
Published on Apr 30, 2019in Annals of the Rheumatic Diseases14.30
Stefan Vordenbäumen10
Estimated H-index: 10
(HHU: University of Düsseldorf),
Ralph Brinks14
Estimated H-index: 14
(HHU: University of Düsseldorf)
+ 2 AuthorsM. Schneider48
Estimated H-index: 48
(HHU: University of Düsseldorf)
In their correspondence1 to our study on the prevalence of Fabry disease (FD) within a national cohort of early undifferentiated arthritis patients in Germany,2 Moiseev et al raise additional issues of importance for clinical rheumatologists pertaining to the change of symptoms in FD over time. Retrospective studies analysing the medical history of patients with confirmed FD raised concerns that FD may be overlooked in rheumatological practice. In particular, Lidove et al reported that 9 of 40 p...
Published on Apr 30, 2019in Annals of the Rheumatic Diseases14.30
Sergey G. Moiseev8
Estimated H-index: 8
,
Ekaterina Karovaikina1
Estimated H-index: 1
+ 3 AuthorsNikolai Bulanov2
Estimated H-index: 2
Fabry disease (FD) is a rare X-linked lysosomal storage disease resulting from the deficient activity of the α-galactosidase A enzyme and leading to a progressive accumulation of glycosphingolipids in a wide range of cells throughout the body. Early symptoms of FD, that is, neuropathic pain (pain in hands and/or feet characterised by exacerbations that are provoked by fever, exercise or heat), angiokeratoma (clustered angiomas in characteristic areas including bathing trunk area, lips and umbili...
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