Atypical Fabry's Disease Presenting with Cholesterol Crystal Embolization.

Shirai, Toshihiro; Ohtake, Takayasu; Kimura, Masato; Iwata, Masatoshi; Fujigaki, Yoshihide; Takayanagi, Shigekazu; Chida, Kingo; Nakamura, Hirotoshi; Hishida, Akira; Irie, Fumitoshi

doi:10.2169/internalmedicine.39.646

Cited by 18 publications

(9 citation statements)

References 13 publications

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“…Hypercholesterolaemia with a markedly raised HDL-cholesterol was observed in patients with Fabry disease [7] and was previously associated with the occurrence of cardiovascular disease [8]. Atherosclerosis was previously described in several case studies [9], [10], [11].…”

Section: Introductionmentioning

confidence: 92%

Lipid profile in adult patients with Fabry disease - Ten-year follow up

Stępień

Hendriksz

2017

Molecular Genetics and Metabolism Reports

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BackgroundFabry disease, an X-linked genetic condition, results from alpha-galactosidase deficiency and increased accumulation of glycosphingolipids in cardiovascular tissues. Clinical manifestation includes vasculature associated complications. Hyperlipidaemia is one of the cardiovascular risk factors however it has never been well defined in Fabry disease. Enzyme Replacement Therapy (ERT) is available but its effect on serum cholesterol is unknown. The aim of this project was to assess the influence of long-term ERT on lipid profile in a large cohort of adult patients with Fabry disease.MethodsThis was a retrospective analysis of lipid profile results. Patients with Fabry disease were on ERT for 10 years, were not treated with statins and had no severe renal impairment. All patients had lipid profile measured before ERT was commenced and 6, 12, 24, 36, 48, 60, 120 months later. Statistical analysis included ANOVA, Student t-test and descriptive statistics.ResultsAmong 72 patients, 40 were females (median age 45; range 29–75), 32 males (median age 46; range 20–69). There was no significant difference in total cholesterol or HDL-cholesterol measured at baseline before ERT was commenced and 6, 12, 24, 36, 48, 60 and 120 months after ERT was commenced in 72 patients (ANOVA; P = 0.673 and P = 0.883, respectively). Female patients on ERT had higher mean HDL-cholesterol as compared to female patients with Fabry disease who were asymptomatic and not treated (P ≥ 0.05). Total cholesterol between treated and non-treated female patients was comparable. Female patients on ERT have higher total cholesterol and HDL-cholesterol when compared to lipid results in male patients on ERT. Total cholesterol/HDL-cholesterol ratio was low in female and male patients on ERT over 10 years.ConclusionAdult patients with Fabry disease have remarkably elevated HDL-cholesterol and as a result, elevated total cholesterol. It is possible that elevated HDL-cholesterol has a cardioprotective effect in patients with this condition. Long term ERT does not have a significant impact on lipid profile in female and male population with Fabry disease.

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Section: Introductionmentioning

confidence: 92%

Lipid profile in adult patients with Fabry disease - Ten-year follow up

Stępień

Hendriksz

2017

Molecular Genetics and Metabolism Reports

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“…The only endothelial cell populations free of, or with limited storage, are in the liver [7] and adrenal cortical sinusoids and epithelium. In the heart, storage of glycolipid occurs in perinuclear lysosomes within cardiocytes [8] and in the conduction system [9], but signs of atherosclerosis have only occasionally been described [10]. Elleder et al found that within the arterial wall, storage was predominantly in the endothelium and smooth muscle cells of the media, leading to a thickened extracellular matrix layer resembling basement membrane material.…”

Section: Abstract: Fabry Disease Therapy Vasculopathymentioning

confidence: 99%

Vascular complications of Fabry disease: enzyme replacement and other therapies

Hughes¹,

Mehta²

2005

Acta Paediatrica

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Fabry disease is an X-linked glycosphingolipid storage disorder resulting from deficiency of a-galactosidase A. Storage of globotriaosylceramide ultimately results in multiorgan pathology, including cerebrovascular, cardiovascular and renal disease. Vascular involvement is evident throughout the body but the mechanisms by which storage on a cellular level leads to endorgan pathology are unknown. Here the evidence for abnormal blood flow, vessel architecture and endothelial function will be reviewed and possible models of vascular pathology discussed. The effects of reversal of storage within vessels by enzyme replacement therapy (ERT) and the possibilities for intervention with additional agents will be considered. Conclusion:The pathology of Fabry disease has an important vascular component, although the underlying pathophysiology is unclear. Preliminary evidence suggests that ERT may have beneficial effects on the vascular component of this multisystem disease.

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“…The only endothelial cell populations free of, or with limited storage, are in the liver 7 and adrenal cortical sinusoids and epithelium. In the heart, storage of glycolipid occurs in perinuclear lysosomes within cardiocytes 8 and in the conduction system 9, but signs of atherosclerosis have only occasionally been described 10. Elleder et al found that within the arterial wall, storage was predominantly in the endothelium and smooth muscle cells of the media, leading to a thickened extracellular matrix layer resembling basement membrane material.…”

Section: Vascular Pathology In Fabry Diseasementioning

confidence: 99%

Vascular complications of Fabry disease: enzyme replacement and other therapies

Hughes

Mehta

2005

Acta Paediatrica

View full text Add to dashboard Cite

Fabry disease is an X‐linked glycosphingolipid storage disorder resulting from deficiency of α‐galactosidase A. Storage of globotriaosylceramide ultimately results in multiorgan pathology, including cerebrovascular, cardiovascular and renal disease. Vascular involvement is evident throughout the body but the mechanisms by which storage on a cellular level leads to end‐organ pathology are unknown. Here the evidence for abnormal blood flow, vessel architecture and endothelial function will be reviewed and possible models of vascular pathology discussed. The effects of reversal of storage within vessels by enzyme replacement therapy (ERT) and the possibilities for intervention with additional agents will be considered. Conclusion: The pathology of Fabry disease has an important vascular component, although the underlying pathophysiology is unclear. Preliminary evidence suggests that ERT may have beneficial effects on the vascular component of this multisystem disease.

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Atypical Fabry's Disease Presenting with Cholesterol Crystal Embolization.

Cited by 18 publications

References 13 publications

Lipid profile in adult patients with Fabry disease - Ten-year follow up

Lipid profile in adult patients with Fabry disease - Ten-year follow up

Vascular complications of Fabry disease: enzyme replacement and other therapies

Vascular complications of Fabry disease: enzyme replacement and other therapies

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