ArticleCNS neuroscience & therapeutics2016
Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment.
Article in CNS neuroscience & therapeutics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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Who cites it
55 citing papers in PubMed, 117 citations in OpenAlex.
- Fabry Disease: An Updated Perspective and Review of Treatment and Therapies.Advances in therapy · 2026Review
- Prevalence and sociodemographic, clinical, and genetic characteristics of Fabry disease in north-central Chile, 2013-2023.Molecular genetics and metabolism reports · 2026Article
- Neurological management and outcome measures in Fabry disease: consensus statements from the Italian Fabry disease neurological working group.Orphanet journal of rare diseases · 2026Article
- Genetic loci responsible for atrioventricular block in children.Frontiers in cell and developmental biology · 2026Review
- Small fiber neuropathy in pediatric female heterozygotes of Fabry disease: a twin case report.BMC pediatrics · 2025Article
- The Role of Skin Innervation for Assessment of Neurological Involvement in Disorders: A Review.Brain sciences · 2025Review
- Fabry disease in females: organ involvement and clinical outcomes compared with the general population (103/150 characters).Orphanet journal of rare diseases · 2025Review
- Multidisciplinary Care Model as a Center of Excellence for Fabry Disease: A Practical Guide to Diagnosis and Management by Clinical Specialty in South Korea.Journal of clinical medicine · 2025Review
- Characterizing pain in patients with Fabry disease: findings from a web-based cross-sectional survey in the US.Orphanet journal of rare diseases · 2025Article
- Article
- Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies.European journal of pain (London, England) · 2025Article
- Females with Fabry disease: an expert opinion on diagnosis, clinical management, current challenges and unmet needs.Frontiers in cardiovascular medicine · 2025Review
- Review
- Chimeric Cell Therapies as a Novel Approach for Duchenne Muscular Dystrophy (DMD) and Muscle Regeneration.Biomolecules · 2024Review
- The Pharmacological Treatment of Neuropathic Pain in Children.Current neuropharmacology · 2024Review
- Updated Evaluation of Agalsidase Alfa Enzyme Replacement Therapy for Patients with Fabry Disease: Insights from Real-World Data.Drug design, development and therapy · 2024Review
- Molecular Pathogenesis of Central and Peripheral Nervous System Complications in Anderson-Fabry Disease.International journal of molecular sciences · 2023Review
- Relief of nocturnal neuropathic pain with the use of cannabis in a patient with Fabry disease.Molecular genetics and metabolism reports · 2023Article
- Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel.Orphanet journal of rare diseases · 2023Article
- Supporting the Diagnosis of Fabry Disease Using a Natural Language Processing-Based Approach.Journal of clinical medicine · 2023Article
Corrections and comments
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Authors and funding
12 authors at 12 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsPatients with Fabry disease (FD) characteristically develop peripheral neuropathy at an early age, with pain being a crucial symptom of underlying pathology. However, the diagnosis of pain is challenging due to the heterogeneous and nonspecific symptoms. Practical guidance on the diagnosis and management of pain in FD is needed.
methodsIn 2014, experts met to discuss recent advances on this topic and update clinical guidance.
resultsEmerging disease-specific tools, including FabryScan, Fabry-specific Pediatric Health and Pain Questionnaire, and Würzburg Fabry Pain Questionnaire, and more general tools like the Total Symptom Score can aid diagnosis, characterization, and monitoring of pain in patients with FD. These tools can be complemented by more objective and quantifiable sensory testing. In male and female patients of any age, pain related to FD can be an early indication to start disease-specific enzyme replacement therapy before potentially irreversible organ damage to the kidneys, heart, or brain occurs.
conclusionTo improve treatment outcomes, pain should be diagnosed early in unrecognized or newly identified FD patients. Treatment should include: (a) enzyme replacement therapy controlling the progression of underlying pathology; (b) adjunctive, symptomatic pain management with analgesics for chronic neuropathic and acute nociceptive, and inflammatory or mixed pain; and (c) lifestyle modifications.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.