Evaluation of Proinflammatory Prognostic Biomarkers for Fabry Cardiomyopathy With Enzyme Replacement Therapy

Chen, Kuan Hsuan; Chien, Yueh; Wang, Kang Ling; Leu, Hsin Bang; Hsiao, Chen Yuan; Lai, Ying Hsiu; Wang, Chien Ying; Chang, Yuh Lih; Lin, Shing Jong; Niu, Dau Ming; Chiou, Shih Hwa; Yu, Wen Chung

doi:10.1016/j.cjca.2015.10.033

Cited by 45 publications

(54 citation statements)

References 31 publications

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“…Statistically significant reductions in plasma lyso-GL-3 with mixed-ERT were reported in one CT publication [182], four OS publications [51,101,102,109] and one CR [133].…”

Section: Resultsmentioning

confidence: 99%

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

Germain

Elliott

Falissard

et al. 2019

Molecular Genetics and Metabolism Reports

153

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BackgroundEnzyme replacement therapy (ERT) with recombinant human α-galactosidase has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the USA. Treatment outcomes with ERT are dependent on baseline patient characteristics, and published data are derived from heterogeneous study populations.MethodsWe conducted a comprehensive systematic literature review of all original articles on ERT in the treatment of Fabry disease published up until January 2017. This article presents the findings in adult male patients.ResultsClinical evidence for the efficacy of ERT in adult male patients was available from 166 publications including 36 clinical trial publications. ERT significantly decreases globotriaosylceramide levels in plasma, urine, and in different kidney, heart, and skin cell types, slows the decline in estimated glomerular filtration rate, and reduces/stabilizes left ventricular mass and cardiac wall thickness. ERT also improves nervous system, gastrointestinal, pain, and quality of life outcomes.ConclusionsERT is a disease-specific treatment for patients with Fabry disease that may provide clinical benefits on several outcomes and organ systems. Better outcomes may be observed when treatment is started at an early age prior to the development of organ damage such as chronic kidney disease or cardiac fibrosis. Consolidated evidence suggests a dose effect. Data described in male patients, together with female and paediatric data, informs clinical practice and therapeutic goals for individualized treatment.

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“…Statistically significant reductions in plasma lyso-GL-3 with mixed-ERT were reported in one CT publication [182], four OS publications [51,101,102,109] and one CR [133].…”

Section: Resultsmentioning

confidence: 99%

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

Germain

Elliott

Falissard

et al. 2019

Molecular Genetics and Metabolism Reports

153

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“… 17 A previous study revealed that glycolipid accumulation in the myocardium constitutes only 1%–3% of the total mass in a hypertrophic heart. 18 Other pathogenic factors such as inflammatory cytokines 19 – 22 and oxidative stress may also contribute to clinical manifestations. 19 , 23 – 25 …”

Section: Discussionmentioning

confidence: 99%

Cardiac manifestations in patients with classical or cardiac subtype of Fabry disease

Wang

Sung

Liao

et al. 2020

Journal of the Chinese Medical Association

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Background: Fabry disease (FD) is an X-linked lysosomal storage disorder engendered by a deficiency of the enzyme α-galactosidase A, leading to systemic accumulation of glycolipids. Studies have reported that the cardiac subtype of FD has a later onset and minimal extracardiac involvement. However, whether the severity of cardiac involvement differs between the classic and cardiac subtypes of FD remains unclear. Methods: We enrolled consecutive patients with classic FD (n = 22; median age [25th–75th percentile], 47.0 [32.75–56.25] years; men, 72.7%) as well as age- and sex-matched patients with a later-onset cardiac subtype of FD who were selected from our cohort of patients with IVS4 919G>A mutation. FD was diagnosed on the basis of clinical symptoms/signs and pedigree screening of index case, plasma α-galactosidase activity, and molecular analysis. Data on clinical manifestations, laboratory findings, and echocardiogram findings were collected before enzyme replacement treatment. Disease severity was evaluated using the Mainz Severity Score Index score. Results: All female patients demonstrated heterozygous mutations, with five, one, and four of them showing normal α-galactosidase activity, classic FD, and cardiac subtype of FD, respectively. The distributions of left ventricular performance indices and comorbidities, including hypertension, diabetes mellitus, and dyslipidemia, were similar between the two groups. Moreover, MSSI cardiovascular scores did not differ significantly between the groups (classic vs cardiac subtype, 10.0 [2.0–12.5] vs 10.5 [9.0–15.25]; p = 0.277). Conclusion: Cardiac manifestations are similar between patients with classic and cardiac subtype of FD.

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“…However, in a mouse model of FD, inflammatory markers and especially SAA expression was normalised after ERT 15 . Furthermore, in a study involving FD patients with the specific IVS4+919G>A mutation, pro‐inflammatory cytokines levels were decreased after ERT 16 . The use of an animal model and a subpopulation of FD patients limits the generalisation of those findings.…”

Section: Discussionmentioning

confidence: 99%

AA amyloidosis associated with Fabry disease

Terré

Buob

Rabant³

et al. 2020

Int. J. Clin. Pract.

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Background Fabry disease (FD) is the second most common lysosomal storage disorder, carrying a large morbidity and mortality. It has been recently reported that lysosomal storage disorders could cause inflammation and, subsequently, AA amyloidosis (AAA). Our aim was to describe AAA cases occurring in the course of FD. Patients and Methods We described two patients displaying both AAA and FD and an additional case from the literature. Results Three female patients originating from Europe (n = 2) and Algeria (n = 1) harboured heterozygous GLA mutations. The median age at AAA diagnosis was 61 years old. The diagnosis of Fabry was made before the diagnosis of AAA (n = 1) or concomitantly (n = 2). At AAA diagnosis, two patients displayed a nephrotic syndrome; all had inflammation. Conclusion Fabry disease can be associated with AAA, suggesting that an inflammatory component could exist in this genetic disease.

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Evaluation of Proinflammatory Prognostic Biomarkers for Fabry Cardiomyopathy With Enzyme Replacement Therapy

Cited by 45 publications

References 31 publications

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

Cardiac manifestations in patients with classical or cardiac subtype of Fabry disease

AA amyloidosis associated with Fabry disease

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