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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 Sep 1, 2019in Annals of the Rheumatic Diseases14.299
· 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 AuthorsMatthias Schneider46
Estimated H-index: 46
(HHU: University of Düsseldorf)
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 (7)
  • Citations (2)
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References7
Newest
#1Hiroki Maruyama (Niigata University)H-Index: 21
#2Kaori Miyata (Genzyme)H-Index: 1
Last. Satoshi IshiiH-Index: 56
view all 31 authors...
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.
8 CitationsSource
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...
5 CitationsSource
#1Malte LendersH-Index: 10
#2Julia B. Hennermann (University of Mainz)H-Index: 5
Last. E. BrandH-Index: 31
view all 17 authors...
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.
13 CitationsSource
#1Olivier Lidove (French Institute of Health and Medical Research)H-Index: 2
#2Valérie ZellerH-Index: 16
Last. Jean-Marc ZizaH-Index: 21
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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...
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#1Rebecca A. James (Royal Children's Hospital)H-Index: 1
#2Davinder Singh-Grewal (Children's Hospital at Westmead)H-Index: 19
Last. Navid Adib (Wesley Hospital)H-Index: 4
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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...
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#1Katinka AlbrechtH-Index: 13
#2Johanna CallhoffH-Index: 13
Last. Angela ZinkH-Index: 48
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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...
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#1Katinka AlbrechtH-Index: 13
#2Johanna CallhoffH-Index: 13
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Zielsetzung Analyse der Remissionsraten und Therapiestrategien bei fruher rheumatoider Arthritis unter Alltagsbedingungen
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Cited By2
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Last. Rosangela PereiraH-Index: 33
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Background Fabry disease (FD) is an X-linked lysosomal disorder due to mutations in the GLA gene resulting in defective enzyme alpha-galactosidase A. FD patients are frequently misdiagnosed, commonly for rheumatic diseases. Determining pathogenicity of a mutation depends of in silico predictions but mostly on available clinical information and interpretation may change in light of evolving knowledge. Similar signs and symptoms in carriers of GLA gene genetic variants of unknown significance or o...
Source
#1Stefan Vordenbäumen (HHU: University of Düsseldorf)H-Index: 10
#2Ralph Brinks (HHU: University of Düsseldorf)H-Index: 14
Last. Matthias Schneider (HHU: University of Düsseldorf)H-Index: 46
view all 5 authors...
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...
Source
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...
1 CitationsSource