Correlation between interleukin‐6 promoter and C‐reactive protein (CRP) polymorphisms and CRP levels with the Mainz Severity Score Index for Fabry disease

Altarescu, Gheona; Chicco, Gaya; Whybra, Catharina; Delgado-Sanchez, S.; Sharon, Nir; Beck, Michael; Elstein, Deborah

doi:10.1007/s10545-007-0716-6

Cited by 23 publications

(18 citation statements)

References 22 publications

(28 reference statements)

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“…The lack of correlation with CRP echoes previous studies where CRP was not associated with the MSSI and clinical severity in Fabry disease (Altarescu et al 2008;Vedder et al 2009). The significant difference in ESR between CVD-positive and CVDnegative patients (23.8 vs. 7.64) and the correlation between ESR and positive CVD history is a novel finding.…”

Section: Discussionsupporting

confidence: 82%

“…These changes are proposed to cause the cerebral tissues to become more metabolically vulnerable leading to demyelination, gliosis, increased interstitial water content and finally to WML formation (Moore et al 2003). Thus, while the exact cellular mechanisms that result in vascular pathology are unknown, a vascular dysfunction is present (Mehta and Ginsberg 2005;Altarescu et al 2008).…”

Section: Introductionmentioning

confidence: 99%

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Homocysteine and Erythrocyte Sedimentation Rate Correlate with Cerebrovascular Disease in Fabry Disease

2012

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Background Cerebrovascular disease (CVD) is a common clinical problem in Fabry disease; however, expression of this disease manifestation is not uniform and risk factors for its development are not well studied. A number of common CVD risk factors are known in the general population, and these may also play a role in the development of CVD in Fabry disease. Aim To evaluate the potential associations between various risk factors and CVD in patients with Fabry disease. Methods and Results Thirty-two Fabry disease patients were studied, with 15 having evidence of CVD. T-tests were used to compare the positive and negative CVD groups and logistic regression was used to look for correlations with CVD history.CVD-positive patients were older (49.73 vs. 37.59 years, p < 0.001) and had worse renal function (GFR 61.53 vs. 96.61 mL/min/1.73 m 2 , p < 0.005), higher homocysteine (17.79 vs. 10.53 mmol/L, p < 0.05) and erythrocyte sedimentation rate (ESR) levels (23.8 vs. 7

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Section: Discussionsupporting

confidence: 82%

Section: Introductionmentioning

confidence: 99%

Homocysteine and Erythrocyte Sedimentation Rate Correlate with Cerebrovascular Disease in Fabry Disease

2012

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“…Some authors conducted a study [58] that showed that the MSSI score may be a useful, specific measure for objectively assessing the severity of AFD and for monitoring ERT. Fabry disease is a multisystem disorder with phenotypic heterogeneity only partially explained by genotype.…”

Section: Afd As a Multiorgan Disease Potential Ge-netic And Circulatmentioning

confidence: 99%

Anderson-Fabry Disease: A Multiorgan Disease

Tuttolomondo¹,

Pecoraro²,

Simonetta³

et al. 2013

CPD

108

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Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme -galactosidase A. FD causes glycolipids, such as globotriaosylceramide (Gb3), to accumulate in the vascular endothelium of several organs (Fig. 2), including the skin, kidneys, nervous system, and heart, thereby triggering inflammation and fibrosis. These processes generally result in organ dysfunction, which is usually the first clinical evidence of FD. Patients with classic FD have various symptoms, eg, acroparesthesias, hypohidrosis, angiokeratomas, corneal opacities, cerebrovascular lesions, cardiac disorders, andrenal dysfunction.However, evolving knowledge about the natural course of disease suggests that it is more appropriate to describe FD as a disease with a wide spectrum of heterogeneously progressive clinical phenotypes. Indeed, most female heterozygotes develop symptoms due to yet undetermined mechanisms and a high percentage of females develops vital organ involvement including the kidneys, heart and/or brain about a decade later than males. Renal failure is a serious complication of this disease. Fabry nephropathy lesions are present and progress in childhood while the disease commonly remains silent by routine clinical measures. Early and timely diagnosis of Fabry nephropathy is crucial since late initiation of enzyme replacement therapy may not halt progressive renal dysfunction. This may be challenging due to difficulties in diagnosis of Fabry disease in children and absence of a sensitive non-invasive biomarker of early Fabry nephropathy. Accurate measurement of glomerular filtration rate and regular assessment for proteinuria and microalbuminuria are useful, though not sensitive enough to detect early lesions in the kidney. The principal clinical manifestations in Fabry disease consist of artery associated complications (such as cerebral disease and nephropathy), but the pathophysiology of this specific vasculopathy is unclear. Several studies indicate that the specific vascular lesions that are present in Fabry disease occur as a result of vascular dysfunction with major components being endothelial dysfunction, alterations in cerebral perfusion and a pro-thrombotic phenotype. Fabry cardiac involvement has several clinical manifestations (Table 10): concentric left ventricular hypertrophy without left ventricular dilation and severe loss of left ventricular systolic function, mitral and aortic valvulopathy, disorders of the atrioventricular conduction or repolarization, and compromised diastolic function. The neurological manifestations of Fabry disease include both peripheral nervous system and CNS involvement, with globotriaosylceramide accumulation found in Schwann cells and dorsal root ganglia together with deposits in CNS neurones. The main involvement of the CNS is attributable to cerebrovasculopathy, with an increased incidence of stroke. The abnormal neuronal accumulation of glycosphingolipid appears to have little clinical effect on the natural history of Fabry disease, wi...

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“…As for other inflammatory cytokines, Altarescu et al investigated the association between IL-6 polymorphism and/ or CRP levels or polymorphism and severity of cardiovascular involvement in Fabry disease; however, the results did not support their hypothesis (20). In 36 Fabry disease patients with renal impairment, markers for coagulation activation, fibrinolysis, platelet activation, endothelial activation and acute phase response (including CRP) were studied.…”

Section: F I G U R E 3 Cl I N I C a L C O U R S E O F Ca S Ementioning

confidence: 99%

Fabry Disease Exhibiting Recurrent Stroke and Persistent Inflammation

Kobayashi

Morinaga

et al. 2010

Intern. Med.

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We describe two cases of Fabry disease in non-blood-related Japanese men, manifesting recurrent stroke even after the start of enzyme replacement therapy. Both exhibited chronic inflammation and ocular involvement with elevated levels of serum C reactive protein prior to the onset of stroke. We, therefore, suggest the association among persistent inflammation, ocular involvement and recurrent stroke in a certain subset of Fabry disease patients. Both cases received enzyme replacement therapy with no improvement in inflammatory signs or laboratory data. These cases suggest that Fabry disease should be considered in young patients with cryptogenic stroke or CNS manifestations and fever of unknown origin.

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Correlation between interleukin‐6 promoter and C‐reactive protein (CRP) polymorphisms and CRP levels with the Mainz Severity Score Index for Fabry disease

Cited by 23 publications

References 22 publications

Homocysteine and Erythrocyte Sedimentation Rate Correlate with Cerebrovascular Disease in Fabry Disease

Homocysteine and Erythrocyte Sedimentation Rate Correlate with Cerebrovascular Disease in Fabry Disease

Anderson-Fabry Disease: A Multiorgan Disease

Fabry Disease Exhibiting Recurrent Stroke and Persistent Inflammation

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