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CNS Neurosci Ther. 2016 Jul;22(7):568-76. doi: 10.1111/cns.12542. Epub 2016 Mar 28.

Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment.

Author information

1
Fundación para el Estudio de las Enfermedades Neurometabólicas (FESEN), Buenos Aires, Argentina.
2
INSERM U-987, Centre d'Evaluation et de Traitement de la Douleur, Hôpital Ambroise Paré, Boulogne, France.
3
Division of Medical Genetics, University of Versailles - St Quentin en Yvelines, Paris-Saclay University, Montigny, France.
4
CHU Bordeaux, Hôpital Pellegrin, Service de Génétique Médicale and Université Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme (MRGM) EA4576, Bordeaux, France.
5
Neuromuscular Unit, Neurology Department, Hospital Clínico San Carlos, Madrid, Spain.
6
Department of Neurology, University of Erlangen-Nuremberg, Erlangen, Germany.
7
Department of Neurology, The Alfred Hospital, Melbourne, Vic., Australia.
8
Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
9
Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
10
IRCCS Institute of Neurological Sciences, Bologna, Italy.
11
Department of Neurology, University of Würzburg, Würzburg, Germany.
12
Pediatric Pain and Palliative Care Program, Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
13
Neurological Unit, St Bassiano Hospital, Bassano del Grappa, Italy.

Abstract

AIMS:

Patients 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.

METHODS:

In 2014, experts met to discuss recent advances on this topic and update clinical guidance.

RESULTS:

Emerging 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.

CONCLUSION:

To 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.

KEYWORDS:

Diagnosis; Enzyme replacement therapy; Fabry disease; Pain; Peripheral nervous system

PMID:
27297686
PMCID:
PMC5071655
DOI:
10.1111/cns.12542
[Indexed for MEDLINE]
Free PMC Article

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