Prevalence of Uncontrolled Hypertension in Patients With Fabry Disease

Kleinert, Julia; Dehout, F.; Schwarting, Andreas; Lorenzo, A. García de; Ricci, Roberta; Kampmann, Christoph; Beck, Michael; Ramaswami, Uma; Linhart, Aleš; Gal, Andreas; Houge, Gunnar; Widmer, Urs; Mehta, Atul; Sunder‐Plassmann, Gere

doi:10.1016/j.amjhyper.2006.01.011

Cited by 68 publications

(60 citation statements)

References 24 publications

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“…There has been speculation regarding autonomic dysfunction in Fabry disease, and the fact that standard hypertension definitions may not be applicable [7]. The prevalence of hypertension in the Fabry Outcome Survey was 57% among men and 47% among women, with hypertension being more prevalent in patients with advanced CKD [10]. A recent cross-sectional analysis revealed prevalent hypertension in 52% of patients with Fabry disease, with pressures being higher in patients with estimated glomerular filtration rates (eGFR) <60 ml/min/1.73 m 2 compared to those with eGFR >60 ml/min/1.73 m 2 [4].…”

Section: Hypertension and Proteinuria In Fabry Diseasementioning

confidence: 99%

Blood Pressure, Proteinuria and Nephropathy in Fabry Disease

Jain

Warnock

2010

Nephron Clin Pract

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Background/Aims: Fabry disease is an X-linked disorder leading to abnormal accumulation of glycosphingolipids with multisystem involvement, including cardiac, renal, dermatologic and neurologic manifestations. Fabry nephropathy, specifically proteinuria and progressive chronic kidney disease, have taken center stage over the past decade, defining disease outcomes as well as mortality associated with Fabry disease. Systemic blood pressure among patients with Fabry disease is relatively low, compared to other forms of proteinuric chronic kidney disease. Methods: This review is based on a systematic survey of recent publications that describe the diagnosis and treatment of Fabry nephropathy in adults. Results: A high percentage of patients with Fabry disease have been shown to have proteinuria, and a small but significant percentage of Fabry patients have overt hypertension. Recent efforts have focused on the use of angiotensin-converting enzyme inhibitors and angiotensin receptor blockers (ACEIs/ARBs) in addition to enzyme replacement therapy (ERT) for treatment of Fabry nephropathy. The proven beneficial effects of ACEI/ARBs for more common forms of proteinuric kidney disease have been extrapolated to the treatment of Fabry nephropathy. The overall treatment goal with ACEIs/ARBs, in combination with ERT, is reduction of urinary protein excretion to less than 500 mg/day, and stabilization of the decline of kidney function to –1 ml/min/1.73 m²/year. ERT alone, in the absence of ACEIs/ARBs does not decrease proteinuria in Fabry patients. We present the prevalence of proteinuria, kidney disease and hypertension in Fabry disease and discuss treatment goals for the treatment of this unusual form of proteinuric kidney disease. Conclusion: There are some practical challenges to the use of standard antiproteinuric therapy in Fabry disease that need to be addressed to optimize patient outcome, with the expectation that kidney function can be preserved with the combination of ERT and ACEI/ARB therapy.

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Section: Hypertension and Proteinuria In Fabry Diseasementioning

confidence: 99%

Blood Pressure, Proteinuria and Nephropathy in Fabry Disease

Jain

Warnock

2010

Nephron Clin Pract

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“…Although we analyzed a cohort of FOS patients with a median age of 46.2 years, one must also consider that, from a US population perspective, the 10-year risk of stroke is higher in middle-aged women aged 55 years than middle-aged men aged 55 years [19]. The main determinant of stroke risk other than advancing age is blood pressure [19], which an earlier analysis showed to be uncontrolled in over half of untreated FOS patients at baseline before declining after 2 years of agalsidase alfa ERT [20]. Analysis of 10-year outcomes in patients receiving agalsidase alfa ERT using deconstructed composite events will shed more light on these observations.…”

Section: Discussionmentioning

confidence: 99%

Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events

Beck

Hughes

Kampmann

et al. 2016

Molecular Genetics and Metabolism

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A B S T R A C TThis is a retrospective analysis of Fabry Outcome Survey data from children/adults (n = 677) receiving agalsidase alfa enzyme replacement therapy for a median of 3 years, examining cerebrovascular, cardiac, and renal morbidity endpoints separately. Cardiac events occurred at younger ages than cerebrovascular or renal events, cerebrovascular events were more frequent in females than males, and males were more likely to experience cardiac and renal events at a younger age than females.

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“…Hypertension has been considered the most important risk factor for stroke in FD, and its effect is probably potentiated by underlying vessel degeneration secondary to deposition of glycosphingolipids [3,10]. It has been associated with small and large vessel disease, and it is thought to be responsible for the majority of cases of hemorrhagic stroke [1,[23][24][25][26]. In the Fabry Registry, patients with stroke were more likely to report a previous history of hypertension compared to FD nonstroke patients, 52.9% versus 20.5%, respectively [3].…”

Section: Incidence Of Stroke In Fabry Diseasementioning

confidence: 99%

Stroke and Fabry disease

Viana-Baptista

2011

J Neurol

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Fabry disease (FD) is a rare inherited disorder of the metabolism, associated with renal, cardiac, and cerebrovascular complications. Ischemic and hemorrhagic stroke in FD present with a similar proportion to that observed in the general population, but usually at an early age. Ischemic stroke may result from cardiac embolism, large and small vessel disease, while hemorrhagic stroke is usually attributed to hypertension. Deposition of glycosphingolipids in endothelial cells results in a specific FD vasculopathy that contributes to the different vascular phenotypes. Neuroimaging features of cerebrovascular involvement in FD include white matter lesions, dolichoectasia, and the "pulvinar sign", a T1 MRI hyperintensity of the posterior thalamus. The role of enzymatic replacement therapy in the prevention of stroke remains to be established, but its utilization should be considered in FD stroke patients, for prevention of renal and cardiac complications, together with general prevention measures. Enzymatic replacement therapy increased our awareness of FD, underlining the importance of incomplete phenotypes in specific settings such as stroke. An overview of studies on the prevalence of FD in stroke patients is presented. Available data suggest that prevalence of FD is similar to some of the rare causes of stroke usually considered, and that classic features of the disease may be absent or more subtle. Moreover, FD should be considered in both cryptogenic and all-cause stroke. The role of FD in stroke on a multifactorial basis and the identification of a putative "stroke variant" are questions that need to be further elucidated in future studies.

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Prevalence of Uncontrolled Hypertension in Patients With Fabry Disease

Abstract: This study revealed a high prevalence of uncontrolled hypertension among patients with Fabry disease. Thus there is a need to improve BP control and renoprotection in patients with Fabry disease.

Cited by 68 publications

References 24 publications

Blood Pressure, Proteinuria and Nephropathy in Fabry Disease

Blood Pressure, Proteinuria and Nephropathy in Fabry Disease

Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events

Stroke and Fabry disease

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