Hot topics in Fabry disease

Cairns, Tereza; Müntze, Jonas; Gernert, Judith; Spingler, Lisa; Nordbeck, Peter; Wanner, Christoph

doi:10.1136/postgradmedj-2018-136056

Cited by 34 publications

(22 citation statements)

References 66 publications

(50 reference statements)

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“…Fabry disease is treatable 8. Enzyme replacement therapy likely changes the natural history and the new oral chaperone shows particular activity in the management of the cardiomyopathy associated with several late-onset missense mutations.…”

Section: Discussionmentioning

confidence: 99%

Fabry cardiomyopathy: missing links from genotype to phenotype

Fuller

Mehta

2020

Heart

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Section: Discussionmentioning

confidence: 99%

Fabry cardiomyopathy: missing links from genotype to phenotype

Fuller

Mehta

2020

Heart

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“…Neutralizing antibodies, which constitute an important issue around ERT, have been recently studied for their impact on clinical outcomes [8]. A Japanese study reported a correlation between antibody levels and lyso-Gb3 levels.…”

Section: Other Biomarkersmentioning

confidence: 99%

“…Lyso-Gb3 is the Gb3 degradation product; it is currently measured in the context of disease screening and diagnosis. In fact, it helps in determining the pathogenicity of a mutation [8].…”

Section: Introductionmentioning

confidence: 99%

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Biomarkers in Anderson–Fabry Disease

Simonetta

Tuttolomondo

Daidone

et al. 2020

IJMS

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Fabry disease is a rare lysosomal storage disorder caused by a deficiency of α-galactosidase A, resulting in multisystemic involvement. Lyso-Gb3 (globotriaosylsphingosine), the deacylated form of Gb3, is currently measured in plasma as a biomarker of classic Fabry disease. Intensive research of biomarkers has been conducted over the years, in order to detect novel markers that may potentially be used in clinical practice as a screening tool, in the context of the diagnostic process and as an indicator of response to treatment. An interesting field of application of such biomarkers is the management of female heterozygotes who present difficulty in predictable clinical progression. This review aims to summarise the current evidence and knowledge about general and specific markers that are actually measured in subjects with confirmed or suspected Fabry disease; moreover, we report potential novel markers such as microRNAs. Recent proteomic or metabolomic studies are in progress bringing out plasma proteome profiles in Fabry patients: this assessment may be useful to characterize molecular pathology of the disease, to improve diagnostic process, and to monitor response to treatment. The management of Fabry disease may be improved by the identification of biomarkers that reflect clinical course, severity, and the progression of the disease.

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“…The defect encoding the enzyme galactosidase A (GLA) is located in the region q21, 22 in the long arm of the X chromosome. To date, more than 900 mutations of the GLA gen have been detected (7), among them many of unclear significance (GUVS) (8).…”

Section: Introductionmentioning

confidence: 99%

Fabry disease: what the cardiologist should consider in non-cardiac screening, diagnosis, and management—narrative review

Regenbogen¹,

Braunisch²,

Schmaderer³

et al. 2021

Cardiovasc Diagn Ther

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Fabry disease (FD) is a rare X chromosomally transmitted lysosomal storage disorders with an absence or deficiency of the enzyme alpha-galactosidase. The deposition of globotriaosylceramide (Gb3) may cause damage to all organs, particularly brain, heart and kidney. While acroparaesthesia, hypo-or anhydrosis and diarrhoea are the main symptoms in childhood, cardiac involvement with left ventricular hypertrophy (LVH), renal insufficiency, diffuse pain attacks and apoplexy are the main symptoms in adulthood. Regular examinations are necessary to record organ involvement and its progression. A major challenge is therefore to make a diagnosis at an early disease stage. This is the only way that treatment can be started if there is an indication. If FD is suspected, alpha-galactosidase should be tested in male patients and genetic testing should be performed in females to confirm the diagnosis. Since 2001, enzyme replacement therapy (ERT) has been available as a causal therapy. In 2016, chaperone therapy with the drug Migalastat was approved in the European Union, which leads to stabilisation of the defective alpha-galactosidase. Studies on gene therapy to cure FD in phase I/II. This review summarizes which patient should be screened, how to confirm the diagnosis and which examinations should be performed in FD patients during the course of the disease.

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Hot topics in Fabry disease

Cited by 34 publications

References 66 publications

Fabry cardiomyopathy: missing links from genotype to phenotype

Fabry cardiomyopathy: missing links from genotype to phenotype

Biomarkers in Anderson–Fabry Disease

Fabry disease: what the cardiologist should consider in non-cardiac screening, diagnosis, and management—narrative review

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