ArticleJournal of inherited metabolic disease2007
High incidence of autoantibodies in Fabry disease patients.
Article in Journal of inherited metabolic disease, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Cardiac Complications Attributed to Chloroquine and Hydroxychloroquine: A Systematic Review of the Literature.Drug safety · 2018Pooled it
- Rapid Progression of Coronary Disease in Fabry Disease: Vulnerable Plaque by Intravascular Ultrasound.JACC. Case reports · 2026Article
- Endothelial dysfunction in Fabry disease: retinal biomarkers link cardiac GLA gene variants with chronic inflammation.NPJ genomic medicine · 2026Article
- Case Report: Concurrent Fabry disease, IgA nephropathy and undifferentiated connective tissue disease in a female with normal enzyme activity.Frontiers in immunology · 2026Article
- Review
- Case Report: Fabry disease overlapping with systemic lupus erythematosus in a pediatric patient.Frontiers in immunology · 2025Article
- Inflammation in Fabry disease: stages, molecular pathways, and therapeutic implications.Frontiers in cardiovascular medicine · 2024Review
- ANCA-negative pauci-immune crescentic glomerulonephritis associated with Fabry disease: lesson for the clinical nephrologist.Journal of nephrology · 2023Article
- Case Report: Be Aware of "New" Features of Niemann-Pick Disease: Insights From Two Pediatric Cases.Frontiers in genetics · 2022Article
- Multidisciplinary Management of Fabry Disease: Current Perspectives.Journal of multidisciplinary healthcare · 2022Review
- Frequency of Fabry disease in a juvenile idiopathic arthritis cohort.Pediatric rheumatology online journal · 2021Article
- Fabry disease patients have an increased risk of stroke in the COVID-19 ERA. A hypothesis.Medical hypotheses · 2020Article
- Glycosphingolipids and neuroinflammation in Parkinson's disease.Molecular neurodegeneration · 2020Review
- Screening for Fabry Disease in Patients With Juvenile Systemic Lupus Erythematosus.Archives of rheumatology · 2020Article
- Restrictive cardiomyopathy in a patient with systemic sclerosis and Fabry disease: a case-based review.Rheumatology international · 2020Review
- Systemic lupus erythematosus, antiphospholipid syndrome and Hashimoto thyroiditis occurring in a patient with Niemann-Pick disease: a second case.The Pan African medical journal · 2020Article
- Article
- Fabry disease and immunoglobulin A nephropathy presenting with Alport syndrome-like findings: A case report.Medicine · 2019Article
- Corneal confocal microscopy detects corneal nerve damage and increased dendritic cells in Fabry disease.Scientific reports · 2018Article
- When arthralgia is not arthritis.European journal of rheumatology · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism that results from a deficiency of the lysosomal enzyme alpha-galactosidase A. This defect leads to the accumulation of its substrates, mainly globotriaosylceramide, in lysosomes of cells of different tissues. Different studies have shown the involvement of immunopathologies in different sphingolipidoses. The coexistence of FD and immune disorders such as systemic lupus erythematosus, rheumatoid arthritis and IgA nephropathy, has been described in the literature. The aim of this study was to evaluate the prevalence of a group of autoantibodies in a series of Argentine FD patients. Autoantibodies against extractable nuclear antigens (ENAs), double-stranded DNA, anticardiolipin and phosphatidylserine were assayed by ELISA. Lupus anticoagulants were also tested. Fifty-seven per cent of the samples showed reactivity with at least one autoantigen. Such reactivities were more frequent among males than among females. Antiphospholipid autoantibodies were detected in 45% of our patients. The high rate of thrombosis associated with FD could be related, at least in part, to the presence of antiphospholipid autoantibodies in Fabry patients. We found the presence of ENAs, which are a characteristic finding of rheumatological diseases, previous a frequent misdiagnosis of FD, in around 39% of the cases. The detection of a high level of autoantibodies must be correlated clinically to determine the existence of an underlying autoimmune disease. With the recent development of therapy, the life expectancy in FD will increase and autoimmune diseases might play an important role in the morbidity of FD.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.