Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment.
CNS Neurosci Ther. 2016-03-28; 22(7): 568-576
DOI: 10.1111/cns.12542
Lire sur PubMed
1. 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.
Politei JM(1), Bouhassira D(2), Germain DP(3), Goizet C(4), Guerrero-Sola A(5),
Hilz MJ(6), Hutton EJ(7), Karaa A(8), Liguori R(9)(10), Üçeyler N(11), Zeltzer
LK(12), Burlina A(13).
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.
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.
© 2016 The Authors. CNS Neuroscience & Therapeutics published by John Wiley &
Sons Ltd.
DOI: 10.1111/cns.12542
PMCID: PMC5071655
PMID: 27297686 [Indexed for MEDLINE]