Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

Mehta, Atul; Ricci, Roberta; Widmer, Urs; Dehout, F.; Lorenzo, A. García de; Kampmann, C.; Linhart, Aleš; Sunder‐Plassmann, Gere; Ries, Markus; Beck, Michael

doi:10.1111/j.1365-2362.2004.01309.x

Cited by 714 publications

(690 citation statements)

References 21 publications

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“…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. 2,000–3,000 USD).…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2011

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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.

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Section: Discussionmentioning

confidence: 99%

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

et al. 2011

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“…Symptoms include dyspnoea in up to 69% of men and 65% of women (Mehta et al 2004), cough, wheeze, reduced exercise tolerance (Lobo et al 2008;Germain 2010) and fatigue (Lobo et al 2008;Franzen et al 2013). Obstructive airway disease has been reported in up to 26% of women and 61% of men (Rosenberg et al 1980;Germain 2010;Franzen et al 2013).…”

Section: Introductionmentioning

confidence: 99%

Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease

et al. 2016

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Objectives: To assess the prevalence of sleep disorder(s) in males with Fabry disease and explore possible association with disease phenotype.Background: Fabry disease, an X-linked lysosomal storage disease caused by deficiency in a-galactosidase, results in intracellular accumulation of globotriaosylceramide. It causes organ dysfunction, most significantly affecting renal, cerebrovascular and cardiovascular systems. Respiratory involvement may include obstructive lung disease, reduced diffusing capacity and thickened soft and hard palates. Patients commonly develop small-fibre sensory peripheral neuropathy manifested by acroparaesthesia and pain crises. Combined with self-reported sleep disturbance and snoring, these features suggest an increased risk of sleep disorders.Methods: In-laboratory polysomnography (PSG) studies and sleep inventory assessments, including Epworth Sleepiness Scale (ESS), were performed in a cohort of male Fabry patients. PSGs were reviewed by a sleep physician. Sleep-disordered breathing and periodic leg movements were targeted for analysis. Associations with renal, cardiovascular and cerebrovascular function were sought.Results: Twenty males underwent overnight PSG. Patient baseline characteristics included age 43.9 AE 10.7 years, BMI 24.3 AE 3.8 kg/m 2 , neck circumference 39.7 AE 3.3 cm and ESS 9.8 AE 5.1 (7/20, abnormal ESS >10). Abnormal periodic leg movement index (PLMI) was present in 95% (mean frequency 42.4 AE 28.5/min) and sleep-disordered breathing in 50% patients. Periodic leg movements were associated with pain and depression but not with increased cortical arousal.Conclusions: Sleep-disordered breathing and abnormal PLMI are highly prevalent in patients with FD.

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“…The average age at Fabry disease diagnosis is 29 years for males (Desnick et al 2AA3), years after disease pathology has significantly progressed and potentially darnaged multiple bodily systems (Brady et al 2001;Schiffinann et al, 2001). Although the onset of Fabry disease symptomatology in females may be comparable to males (Ries et al 2003), the average delay in diagnosis is 16.3 years from the onset of symptoms for females, compared with an average of 13.7 years for males (Mehta et al, 2004 (Miles and Huberman 1994). With this technique, themes arise from the raw data, rather than being deductively coded from a pre-determined theory or methodology (Miles and Huberman 1994).…”

Section: Introductionmentioning

confidence: 99%

Disease Rarity, Carrier Status, and Gender: A Triple Disadvantage for Women with Fabry Disease

Gibas

Klatt

Johnson

et al. 2008

Journal of Genetic Counseling

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Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

Cited by 714 publications

References 21 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

Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease

Disease Rarity, Carrier Status, and Gender: A Triple Disadvantage for Women with Fabry Disease

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