Prevalence of symptoms in female Fabry disease patients: a case‐control survey

Bouwman, Machtelt G.; Rombach, Saskia M.; Schenk, Erica; Sweeb, Annelies; Wijburg, Frits A.; Hollak, Carla E. M.; Linthorst, Gabor E.

doi:10.1007/s10545-011-9447-9

Cited by 29 publications

(33 citation statements)

References 23 publications

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“…The risk for depression and anxiety in women affected by FD is increased and is experienced by half of affected women, even when they are not postpartum (Wang et al 2007;Bouwman et al 2012;Laney et al 2013;Bolsover et al 2014).…”

Section: Discussionmentioning

confidence: 99%

“…Over 60% of female heterozygotes suffer significant burden of disease and reduced quality of life (Wang et al 2007). Frequent symptoms include hypertension prior to onset of worsening renal disease, severe abdominal cramping, hypohidrosis, central nervous system involvement with premature stroke, and psychological issues (Whybra et al 2001;Ries et al 2003;Gupta et al 2005;Deegan et al 2006;Wang et al 2007;Wilcox et al 2008;Bouwman et al 2012). As more than half of women with FD suffer from disease symptoms, the importance of evaluating disease status during pregnancy has been stressed and requires further investigation.…”

Section: Introductionmentioning

confidence: 99%

“…These include preeclampsia, gestational diabetes, hypertension, and maternal age at delivery (Macdonald-Wallis et al 2011). Small-scale studies have shown that traditional FD symptoms such as acroparesthesias may worsen during pregnancy; however, no conclusive evidence of worsening of symptoms during pregnancy was seen in a previous large-scale review (Bouwman et al 2012). The purpose of this retrospective survey is to increase our understanding of the actual risks in the previous pregnancies of women affected by FD as compared to reported rates of complications in the general population.…”

Section: Introductionmentioning

confidence: 99%

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A Retrospective Survey Studying the Impact of Fabry Disease on Pregnancy

Holmes

Laney

2014

JIMD Reports

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Fabry disease (FD) is a lysosomal storage disorder resulting from a deficiency of lysosomal enzyme a-galactosidase A (a-gal A). Reduced or missing a-gal A enzyme results in the storage of globotriaosylceramide (GL3) and related glycosphingolipids in the cellular lysosomes throughout the body. The majority of GL3 buildup occurs in the body's vasculature resulting in narrowed blood vessels and an increased risk for strokes, transient ischemic attacks, and deep vein thrombosis. Theoretical concerns have been raised about increased pregnancy complications in women affected by FD as glycosphingolipid storage has been found in both maternal-and fetal-derived placental tissues. This retrospective study was conducted to better understand risks for women with FD during pregnancy. Survey questions included queries about prenatal medications, teratogenic exposures, prenatal testing, common pregnancy complications, Fabry symptoms during pregnancy, obstetrical history, and immediate neonatal history. In total, 41 affected women completed the survey. Results indicate several Fabry-related symptoms and features may worsen during pregnancy, including gastrointestinal symptoms, acroparesthesias, proteinuria, headaches, and postpartum depression. Although no life-threatening complications were reported, a statistically significant increased frequency of hypertension was observed when comparing data from this study to the general population (p < 0.05) and previous publications (p < 0.001). Limitations include sample size and recall bias. Though this survey sampling of women was small and required women to recall their past pregnancy experiences, the findings suggest that when pregnant, women with FD should be aware of potential worsening of FD symptoms and may benefit from consulting with a maternal-fetal medicine specialist.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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A Retrospective Survey Studying the Impact of Fabry Disease on Pregnancy

Holmes

Laney

2014

JIMD Reports

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“…Patients without myocardial fibrosis had normal blood pressure regulation, whereas patients with severe fibrosis had the most limited increase in sBP during exercise. Fewer than half of the patients in the severe stages had an increase exceeding 50 mmHg during exercise, which partly explains the reduced working capacity and frequently displayed dizziness or fainting under physical stress (Ramaswami et al 2006;Bouwman et al 2012). A dBP decline occurred only in patients with no (3/41) or mild fibrosis on cMRI (3/34).…”

Section: Holter Ecgmentioning

confidence: 99%

Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy

et al. 2015

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Background: In Fabry cardiomyopathy, little is known about the interaction between its key feature of myocardial replacement fibrosis and changes in resting, Holter, and exercise electrocardiography (ÀECG).Methods and Results: Resting ECG, 24-h Holter ECG, and exercise ECG were performed in 95 patients (50 women) with Fabry disease, staged using cardiac magnetic resonance imaging to measure left ventricular fibrosis. With resting ECG, T alterations were seen in patients with cardiac fibrosis, while time intervals and rhythm were unchanged (except for a longer QRS duration in patients with severe fibrosis). All patients with severe fibrosis showed T inversion, ST alteration, or both. With Holter ECG, maximum and minimum heart rate did not differ with fibrosis severity. Patients without fibrotic tissue showed less ventricular premature beats (VPB) (median 5/24 h) compared to those with mild (median 11/24 h) or severe fibrosis (median 115/24 h; P < 0.05, respectively). Fibrosis was a strong predictor of VPB burden (r 2 ¼ 0.5; P < 0.001). During exercise, patients with severe fibrosis had the least increase in systolic blood pressure (sBP) (47 AE 22 mmHg vs. 62 AE 25 mmHg, P < 0.05) and the lowest maximum heart rate (113 AE 18/min; P < 0.05). Patients with mild fibrosis had a high sBP during exercise (198 AE 37 mmHg; P < 0.05). Decreased diastolic blood pressure (>10 mmHg) occurred in some patients with no (3/41) or mild fibrosis (3/ 34) but not in patients with severe fibrosis (0/20; P < 0.01).Conclusions: Our data suggest that cardiac replacement fibrosis is responsible for repolarization abnormalities on resting ECG and increased VPB with Holter ECG. During exercise ECG, advanced cardiomyopathy is characterized by chronotropic incompetence with limitations on blood pressure and heart rate increase.

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“…The only way to appreciate whether certain complaints, aspecific or not, are part of the spectrum of FD is to study their prevalence in comparison with an appropriate control group. Bouwman et al in a recent study [17] explore the prevalence of signs and symptoms in FD females in comparison to a control group. In this study FD females and age-matched controls were approached to complete a questionnaire.…”

Section: Anderson-fabry Disease As a Multiorgan Dis-easementioning

confidence: 99%

Anderson-Fabry Disease: A Multiorgan Disease

Tuttolomondo¹,

Pecoraro²,

Simonetta³

et al. 2013

CPD

110

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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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Prevalence of symptoms in female Fabry disease patients: a case‐control survey

Cited by 29 publications

References 23 publications

A Retrospective Survey Studying the Impact of Fabry Disease on Pregnancy

A Retrospective Survey Studying the Impact of Fabry Disease on Pregnancy

Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy

Anderson-Fabry Disease: A Multiorgan Disease

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