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Fabry disease pain: patient and preclinical parallels.
Pain
May 2021
Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, United States.
Severe neuropathic pain is a hallmark of Fabry disease, a genetic disorder caused by a deficiency in lysosomal α-galactosidase A. Pain experienced by these patients significantly impacts their quality of life and ability to perform everyday tasks. Patients with Fabry disease suffer from peripheral neuropathy, sensory abnormalities, acute pain crises, and lifelong ongoing pain.
View Article and Find Full Text PDFA comprehensive Fabry-related pain questionnaire for adult patients.
Pain
November 2014
Department of Neurology, University of Würzburg, Würzburg, Germany; Würzburg Fabry Center for Interdisciplinary Therapy (FAZIT), University of Würzburg, Würzburg, Germany.
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.
View Article and Find Full Text PDFThe relation between small nerve fibre function, age, disease severity and pain in Fabry disease.
Eur J Pain
September 2011
Department of Neurology, Academic Medical Centre, Amsterdam, The Netherlands.
Background: Small fibre neuropathy supposedly causes pain in Fabry patients, but the relationship between small nerve fibre function and pain severity is unclear.
Methods: A cohort of 15 male and 33 female Fabry patients was studied making use of a quantitative sensory testing protocol, disease severity measures and pain scales to investigate the relationship between nerve fibre function, age, disease severity and pain intensity.
Results: Male Fabry patients exhibited an abnormal cold detection threshold and thermal sensory limen at the upper and lower limb, indicating Aδ-fibre hypofunction.
Fabry disease--pain doctors have to find the missing ones.
Pain
September 2009
Division of Neurological Pain Research and Therapy, Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel, Germany.
Fabry disease and the skin: data from FOS, the Fabry outcome survey.
Br J Dermatol
August 2007
Department of Dermatology, Royal Free Hospital, London NW3 2QG, UK.
Background: Fabry disease (also known as Anderson-Fabry disease) is a rare, X-linked lysosomal storage disorder that is characterized by accumulation of globotriaosylceramide throughout a range of tissues in the body.
Objectives: To ascertain the prevalence and nature of cutaneous manifestations in patients with Fabry disease and to relate these to the severity of systemic manifestations of the disease.
Methods: We have documented the dermatological features of this disease with reference to data from 714 patients (345 males, 369 females) registered on the Fabry Outcome Survey (FOS), a multicentre European database.
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