Involvement of dorsal root ganglia in Fabry's disease.

Gadoth, Natan; Sandbank, U.

doi:10.1136/jmg.20.4.309

Cited by 71 publications

(49 citation statements)

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“…A number of autopsy and pathological reports of patients with Fabry disease have been published [6,7,10,20,21]. The pathological findings in this patient showed an almost complete absence of glycolipid deposits in vascular endothelial cells attributable to the agalsidase beta infusions.…”

Section: Discussionmentioning

confidence: 97%

Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement

et al. 2005

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We describe the postmortem findings of a 47-year-old man with Fabry disease, an X-linked glycolipid storage disorder, who was on enzyme replacement therapy with recombinant α-galactosidase A for more than 2 years. The patient had widespread atherosclerotic coronary artery disease that culminated in a massive acute myocardial infarction. Atherosclerotic lesions were seen in the right and left coronary systems, aorta, and the basilar artery. Typical Fabry cardiomyopathy and glomerular nephropathy were found. With the exception of vascular endothelial cells, extensive glycolipid storage deposits were seen in all vascular and nonvascular cells and organ systems. We conclude that, at least in this patient, repeated infusions with α-galactosidase A over a prolonged period did not appreciably clear storage material in cells other than vascular endothelial cells. These findings also illustrate accelerated atherosclerosis in susceptible patients with Fabry disease.

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Section: Discussionmentioning

confidence: 97%

Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement

et al. 2005

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“…The mutations were localized in all exons of the gene. [1][2][3][4][5][6][7] Missense mutations that were partially surface-exposed and distal to the active site were associated with the presence of residual GALA activity in this cohort. Mutations near the catalytic site of the enzyme resulted in undetectable GALA activity.…”

Section: Discussionmentioning

confidence: 99%

“…3 These lipids include globotriaosylceramide (Gb 3 ), digalactosyl ceramide, and blood group B, B1, and P1 glycolipids, which accumulate in a variety of cell types. [4][5][6][7][8][9][10] The gene for GALA (GLA) is located on Xq22.1. Although it is known that storage of Gb 3 affects a variety of cell types, the precise pathogenic mechanism of the disease remains to be elucidated.…”

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confidence: 99%

Pediatric Fabry Disease

et al. 2005

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ABSTRACT. Background. Fabry disease is an underdiagnosed, treatable, X-linked, multisystem disorder.Objectives. To test the hypothesis that quality of life and sweating are decreased among pediatric patients with Fabry disease, compared with control subjects, and to provide quantitative natural history data and novel clinical end points for therapeutic trials.Design. Prospective, cross-sectional, observational study.

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“…The recognition of this early red flag is essential to make the diagnosis and to start treatment before organ involvement ensues. Fabry disease-associated pain is assumed to be neuropathic because Gb3 deposits have been reported in nervous tissue of patients [5,9] and because small-fiber neuropathy is associated with Fabry disease [2,10,11,16,19,20]. However, Fabry pain also entails nonneuropathic components and may respond to medication that is otherwise ineffective in neuropathic pain [18].…”

Section: Introductionmentioning

confidence: 97%

A comprehensive Fabry-related pain questionnaire for adult patients

Üçeyler

Magg

Thomas

et al. 2014

Pain

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Pain may be the earliest symptom in Fabry disease and presents with a distinct phenotype including triggerable pain attacks, evoked pain, pain crises, and chronic pain. Current pain questionnaires do not reflect the special phenotype of Fabry disease-associated pain, which hampers its systematic evaluation as the basis of correct diagnosis and effective treatment. A questionnaire specifically designed to assess Fabry disease-associated pain is thus urgently needed. At the Würzburg Fabry Center for Interdisciplinary Therapy (FAZIT), Germany, we developed and validated the first face-to-face Fabry Pain Questionnaire (FPQ) for adult patients. The initial version of the FPQ was tested in a pilot study with 20 consecutive Fabry disease patients. The performance of the revised FPQ was assessed in a first (n=56) and second (n=20) validation phase in consecutive Fabry disease patients. For this, patients were interviewed at baseline and 2 weeks later. We determined the test-retest reliability and validity of the FPQ in comparison to data obtained with the Neuropathic Pain Symptom Inventory. The FPQ contains 15 questions on the 4 pain phenotypes of Fabry disease (pain attacks, pain crises, evoked pain, chronic pain) in childhood and adulthood, on pain development during life with and without enzyme replacement therapy, and on everyday life impairment due to pain. This first disease-specific questionnaire is a valuable tool for baseline and follow-up assessment of pain in Fabry disease patients and may guide treatment in this distinct pain phenotype.

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Involvement of dorsal root ganglia in Fabry's disease.

Cited by 71 publications

References 11 publications

Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement

Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement

Pediatric Fabry Disease

A comprehensive Fabry-related pain questionnaire for adult patients

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