TY - JOUR
T1 - Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease
T2 - the European Fabry Working Group consensus document
AU - Biegstraaten, Marieke
AU - Arngrímsson, Reynir
AU - Barbey, Frederic
AU - Boks, Lut
AU - Cecchi, Franco
AU - Deegan, Patrick B
AU - Feldt-Rasmussen, Ulla
AU - Geberhiwot, Tarekegn
AU - Germain, Dominique P
AU - Hendriksz, Chris
AU - Hughes, Derralynn A
AU - Kantola, Ilkka
AU - Karabul, Nesrin
AU - Lavery, Christine
AU - Linthorst, Gabor E
AU - Mehta, Atul
AU - van de Mheen, Erica
AU - Oliveira, João P
AU - Parini, Rossella
AU - Ramaswami, Uma
AU - Rudnicki, Michael
AU - Serra, Andreas
AU - Sommer, Claudia
AU - Sunder-Plassmann, Gere
AU - Svarstad, Einar
AU - Sweeb, Annelies
AU - Terryn, Wim
AU - Tylki-Szymanska, Anna
AU - Tøndel, Camilla
AU - Vujkovac, Bojan
AU - Weidemann, Frank
AU - Wijburg, Frits A
AU - Woolfson, Peter
AU - Hollak, Carla E M
PY - 2015
Y1 - 2015
N2 - Introduction: Fabry disease (FD) is a lysosomal storage disorder resulting in progressive nervous system, kidney and heart disease. Enzyme replacement therapy (ERT) may halt or attenuate disease progression. Since administration is burdensome and expensive, appropriate use is mandatory. We aimed to define European consensus recommendations for the initiation and cessation of ERT in patients with FD. Methods: A Delphi procedure was conducted with an online survey (n∈=∈28) and a meeting (n∈=∈15). Patient organization representatives were present at the meeting to give their views. Recommendations were accepted with 75% agreement and no disagreement. Results: For classically affected males, consensus was achieved that ERT is recommended as soon as there are early clinical signs of kidney, heart or brain involvement, but may be considered in patients of 16 years in the absence of clinical signs or symptoms of organ involvement. Classically affected females and males with non-classical FD should be treated as soon as there are early clinical signs of kidney, heart or brain involvement, while treatment may be considered in females with non-classical FD with early clinical signs that are considered to be due to FD. Consensus was achieved that treatment should not be withheld from patients with severe renal insufficiency (GFR < 45 ml/min/1.73 m2) and from those on dialysis or with cognitive decline, but carefully considered on an individual basis. Stopping ERT may be considered in patients with end stage FD or other co-morbidities, leading to a life expectancy of <1 year. In those with cognitive decline of any cause, or lack of response for 1 year when the sole indication for ERT is neuropathic pain, stopping ERT may be considered. Also, in patients with end stage renal disease, without an option for renal transplantation, in combination with advanced heart failure (NYHA class IV), cessation of ERT should be considered. ERT in patients who are non-compliant or fail to attend regularly at visits should be stopped. Conclusion: The recommendations can be used as a benchmark for initiation and cessation of ERT, although final decisions should be made on an individual basis. Future collaborative efforts are needed for optimization of these recommendations.
AB - Introduction: Fabry disease (FD) is a lysosomal storage disorder resulting in progressive nervous system, kidney and heart disease. Enzyme replacement therapy (ERT) may halt or attenuate disease progression. Since administration is burdensome and expensive, appropriate use is mandatory. We aimed to define European consensus recommendations for the initiation and cessation of ERT in patients with FD. Methods: A Delphi procedure was conducted with an online survey (n∈=∈28) and a meeting (n∈=∈15). Patient organization representatives were present at the meeting to give their views. Recommendations were accepted with 75% agreement and no disagreement. Results: For classically affected males, consensus was achieved that ERT is recommended as soon as there are early clinical signs of kidney, heart or brain involvement, but may be considered in patients of 16 years in the absence of clinical signs or symptoms of organ involvement. Classically affected females and males with non-classical FD should be treated as soon as there are early clinical signs of kidney, heart or brain involvement, while treatment may be considered in females with non-classical FD with early clinical signs that are considered to be due to FD. Consensus was achieved that treatment should not be withheld from patients with severe renal insufficiency (GFR < 45 ml/min/1.73 m2) and from those on dialysis or with cognitive decline, but carefully considered on an individual basis. Stopping ERT may be considered in patients with end stage FD or other co-morbidities, leading to a life expectancy of <1 year. In those with cognitive decline of any cause, or lack of response for 1 year when the sole indication for ERT is neuropathic pain, stopping ERT may be considered. Also, in patients with end stage renal disease, without an option for renal transplantation, in combination with advanced heart failure (NYHA class IV), cessation of ERT should be considered. ERT in patients who are non-compliant or fail to attend regularly at visits should be stopped. Conclusion: The recommendations can be used as a benchmark for initiation and cessation of ERT, although final decisions should be made on an individual basis. Future collaborative efforts are needed for optimization of these recommendations.
KW - Adolescent
KW - Disease Progression
KW - Enzyme Replacement Therapy
KW - Fabry Disease
KW - Female
KW - Humans
KW - Isoenzymes
KW - Male
KW - Practice Guidelines as Topic
KW - alpha-Galactosidase
U2 - 10.1186/s13023-015-0253-6
DO - 10.1186/s13023-015-0253-6
M3 - Journal article
C2 - 25885911
SN - 1750-1172
VL - 10
SP - 36
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
ER -
