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



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



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.



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.
Fundación para el Estudio de las Enfermedades Neurometabólicas (FESEN), Buenos Aires, Argentina.
Juan M
JM
Politei
INSERM U-987, Centre d'Evaluation et de Traitement de la Douleur, Hôpital Ambroise Paré, Boulogne, France.
Didier
D
Bouhassira
Division of Medical Genetics, University of Versailles - St Quentin en Yvelines, Paris-Saclay University, Montigny, France.
Dominique P
DP
Germain
CHU Bordeaux, Hôpital Pellegrin, Service de Génétique Médicale and Université Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme (MRGM) EA4576, Bordeaux, France.
Cyril
C
Goizet
Neuromuscular Unit, Neurology Department, Hospital Clínico San Carlos, Madrid, Spain.
Antonio
A
Guerrero-Sola
Department of Neurology, University of Erlangen-Nuremberg, Erlangen, Germany.
Max J
MJ
Hilz
Department of Neurology, The Alfred Hospital, Melbourne, Vic., Australia.
Elspeth J
EJ
Hutton
Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Amel
A
Karaa
Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.|IRCCS Institute of Neurological Sciences, Bologna, Italy.
Rocco
R
Liguori
Department of Neurology, University of Würzburg, Würzburg, Germany.
Nurcan
N
Üçeyler
Pediatric Pain and Palliative Care Program, Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Lonnie K
LK
Zeltzer
Neurological Unit, St Bassiano Hospital, Bassano del Grappa, Italy.
Alessandro
A
Burlina
D018712:Analgesics, Non-Narcotic / Q000627:therapeutic use; D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000627:therapeutic use; D003937:Diagnosis, Differential; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000150:complications* / Q000473:pathology / Q000628:therapy; D005260:Female; D005727:Ganglia, Spinal / Q000473:pathology; D006801:Humans; D008019:Life Style; D008297:Male; D010146:Pain / Q000175:diagnosis* / Q000209:etiology*; D059408:Pain Management / Q000379:methods*; D010147:Pain Measurement; D011795:Surveys and Questionnaires
D018712:Analgesics, Non-Narcotic; D000894:Anti-Inflammatory Agents, Non-Steroidal
Diagnosis; Enzyme replacement therapy; Fabry disease; Pain; Peripheral nervous system