Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study

Rolfs, Arndt; Böttcher, Tobias; Zschiesche, M; Morris, Peter J.; Winchester, Bryan; Bauer, Peter; Walter, Uwe; Mix, Eilhard; Löhr, Matthias; Harzer, K.; Strauß, Ulf; Pahnke, Jens; Großmann, Annette; Benecke, R.

doi:10.1016/s0140-6736(05)67635-0

Cited by 423 publications

(324 citation statements)

References 8 publications

Supporting

Mentioning

292

Contrasting

Unclassified

Order By: Relevance

“…This makes CE-MS particularly useful as a noninvasive diagnostic screening test in unexplained renal, cardiac or cerebrovascular disease. Several recent studies have shown a high prevalence of Fabry disease in populations with unexplained renal failure [21], [22], [23], [24], stroke [25], [26], [27] or hypertrophic cardiomyopathy [28], [29], [30]. However, screening these populations for Fabry disease is hampered by the low sensitivity of GLA activity measurement in female patients (50% [31]–67% [32]) whereas diagnostic sequencing of the GLA gene is not feasible given the high cost (currently ca.…”

Section: Discussionmentioning

confidence: 99%

A Distinct Urinary Biomarker Pattern Characteristic of Female Fabry Patients That Mirrors Response to Enzyme Replacement Therapy

et al. 2011

View full text Add to dashboard Cite

Female patients affected by Fabry disease, an X-linked lysosomal storage disorder, exhibit a wide spectrum of symptoms, which renders diagnosis, and treatment decisions challenging. No diagnostic test, other than sequencing of the alpha-galactosidase A gene, is available and no biomarker has been proven useful to screen for the disease, predict disease course and monitor response to enzyme replacement therapy. Here, we used urine proteomic analysis based on capillary electrophoresis coupled to mass spectrometry and identified a biomarker profile in adult female Fabry patients. Urine samples were taken from 35 treatment-naïve female Fabry patients and were compared to 89 age-matched healthy controls. We found a diagnostic biomarker pattern that exhibited 88.2% sensitivity and 97.8% specificity when tested in an independent validation cohort consisting of 17 treatment-naïve Fabry patients and 45 controls. The model remained highly specific when applied to additional control patients with a variety of other renal, metabolic and cardiovascular diseases. Several of the 64 identified diagnostic biomarkers showed correlations with measures of disease severity. Notably, most biomarkers responded to enzyme replacement therapy, and 8 of 11 treated patients scored negative for Fabry disease in the diagnostic model. In conclusion, we defined a urinary biomarker model that seems to be of diagnostic use for Fabry disease in female patients and may be used to monitor response to enzyme replacement therapy.

show abstract

Section: Discussionmentioning

confidence: 99%

A Distinct Urinary Biomarker Pattern Characteristic of Female Fabry Patients That Mirrors Response to Enzyme Replacement Therapy

et al. 2011

View full text Add to dashboard Cite

show abstract

“…7,16 Although only four patients have been reported earlier, our recent clinical experience with three patients suggests that cerebral hemorrhage is a relatively common underrecognized complication of Fabry's disease. 17 Indeed, the incidence rate of cerebral hemorrhage was reported to be about threefold higher in Fabry's stroke group (14.3%) than non-Fabry's stroke group (5.0%), 9 although detailed information regarding hemorrhage was not described.…”

Section: Discussionmentioning

confidence: 99%

“…Another atypical variant of Fabry's disease has been reported, with manifestations limited to the cerebrovascular system. 9,10 Although cerebral infarction is recognized as an important manifestation of Fabry's disease, 2,9,11 cerebral hemorrhage seems to be underrecognized in this disorder. Here, we report our recent clinical experience with three hemizygous male patients with Fabry's disease suffering from cerebral hemorrhage.…”

Section: Introductionmentioning

confidence: 99%

Cerebral hemorrhage in Fabry's disease

et al. 2010

View full text Add to dashboard Cite

“…Various studies included hemodialysis patients; with a frequency of confirmed diagnosis between 0.2 and 1.2% (79,80). Other studies have focused on patients with cryptogenic stroke or unexplained left ventricular hypertrophy with frequencies between 3 and 6% (81,82).…”

Section: Screeningsmentioning

confidence: 99%

Fabry Disease: Treatment and diagnosis

Rozenfeld

2009

IUBMB Life

View full text Add to dashboard Cite

SummaryFabry disease is an X-linked lysosomal disorder that results from a deficiency of the lysosomal enzyme a-galactosidase A leading to accumulation of glycolipids, mainly globotriaosylceramide in the cells from different tissues. Classical Fabry disease affects various organs. Clinical manifestations start at early age and include angiokeratoma, acroparesthesia, hypohydrosis, heat/exercise intolerance, gastrointestinal pain, diarrhea, and fever. The main complications of Fabry disease are more prominent after the age of 30 when kidney, heart, and/or cerebrovascular disorders appear. Most of the heterozygous females are symptomatic. Enzyme replacement therapy (ERT) is the only specific treatment for Fabry disease. The beneficial effect of ERT on different organs/systems has been extensively evaluated. Quality of life of patients receiving ERT is improved. Enzyme replacement stabilizes or slows the decline in renal function and reduces left ventricular hypertrophy. Fabry disease may be underdiagnosed because of nonspecific and multiorgan symptoms. Different screening strategies have been carried out in different at-risk populations in order to detect undiagnosed Fabry patients. An increasing knowledge about Fabry disease within the medical community increases the chances of patients to receive a timely diagnosis and, consequently, to access the appropriate therapy.

show abstract

Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study

Cited by 423 publications

References 8 publications

A Distinct Urinary Biomarker Pattern Characteristic of Female Fabry Patients That Mirrors Response to Enzyme Replacement Therapy

A Distinct Urinary Biomarker Pattern Characteristic of Female Fabry Patients That Mirrors Response to Enzyme Replacement Therapy

Cerebral hemorrhage in Fabry's disease

Fabry Disease: Treatment and diagnosis

Contact Info

Product

Resources

About