Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease

Daniela Concolino, Emilia Degennaro, Rossella Parini, Daniela Antuzzi, Bruno Bembi, Andrea Benso, Gianni Carraro, Cristina Chimenti, Loredana Colla, Maria Teresa Cuonzo, Goffredo Del Rosso, Marina Diomedi, Claudio Feliciani, Sandro Feriozzi, Anna Ficcadenti, Andrea Frustaci, Maria Gnarra, Margherita Maccarone, Michelangelo Mancuso, Andrea MatucciRenzo Mignani, Beatrice Musumeci, Patrizia Nencini, Stefania Piga, Antonio Pisani, Federica Re, Alessandro Salviati, Marco Spada, Alessandra Vultaggio, Elisabetta Zachara, Maria Luisa Zedde, Pier Giorgio Zoli

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Background: Management of AndersonFabry disease (AFD) is contentious, particularly regarding enzyme replacement therapy (ERT). We report results of a Delphi consensus panel on AFD management.

Methods: A survey to gauge consensus among AFD experts was distributed online and responses were analysed. Statements on: 1) diagnosis; 2) when starting ERT; 3) management of ERT infusion and adverse reactions; and 4) follow-up/monitoring response to therapy and progression of disease were included. Responseswithout consensus were discussed with an enlarged panel and modified to reach consensus.

Results: 15 experts responded to the survey. After plenary discussion among the enlarged panel, consensus was reached on most statements. Key points were the use of a target organ biopsy to showGb3 deposits in symptomatic women with negative molecular analysis, the need for ERT in symptomatic women and in all patients with persistent signs and symptoms ± organ damage. It was agreed to assess vital signs before ERT administration and use a 0.2 μL filter on infusion to reduce the risk of adverse reactions, that serum should be drawn prior to the first infusion for anti-agalsidase antibody analysis to have a baseline value if a subsequent adverse reaction appears, and that pre-medication is required in those with prior infusion reactions. Holter ECG monitoring, cardiac and brain MRI, renal parameters, and abdominal ultrasound were considered important for the assessment of disease progression and response at ERT.

Conclusions: This consensus supplies guidance to healthcare providers on best practice in the management of patients with AFD and indicates a need for more guidance.

Original languageEnglish
Pages (from-to)751-756
Number of pages6
JournalEuropean Journal of Internal Medicine
Volume25
Issue number8
DOIs
Publication statusPublished - Oct 1 2014

Fingerprint

Enzyme Replacement Therapy
Fabry Disease
Disease Management
Disease Progression
Therapeutics
Ambulatory Electrocardiography
Vital Signs
Practice Management
Practice Guidelines
Health Personnel
Signs and Symptoms
Anti-Idiotypic Antibodies
Electrocardiography
Kidney
Biopsy
Brain
Serum

Keywords

  • Diagnosis
  • Fabry disease
  • Management
  • Treatment

ASJC Scopus subject areas

  • Internal Medicine
  • Medicine(all)

Cite this

Concolino, D., Degennaro, E., Parini, R., Antuzzi, D., Bembi, B., Benso, A., ... Zoli, P. G. (2014). Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease. European Journal of Internal Medicine, 25(8), 751-756. https://doi.org/10.1016/j.ejim.2014.07.009

Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease. / Concolino, Daniela; Degennaro, Emilia; Parini, Rossella; Antuzzi, Daniela; Bembi, Bruno; Benso, Andrea; Carraro, Gianni; Chimenti, Cristina; Colla, Loredana; Cuonzo, Maria Teresa; Del Rosso, Goffredo; Diomedi, Marina; Feliciani, Claudio; Feriozzi, Sandro; Ficcadenti, Anna; Frustaci, Andrea; Gnarra, Maria; Maccarone, Margherita; Mancuso, Michelangelo; Matucci, Andrea; Mignani, Renzo; Musumeci, Beatrice; Nencini, Patrizia; Piga, Stefania; Pisani, Antonio; Re, Federica; Salviati, Alessandro; Spada, Marco; Vultaggio, Alessandra; Zachara, Elisabetta; Zedde, Maria Luisa; Zoli, Pier Giorgio.

In: European Journal of Internal Medicine, Vol. 25, No. 8, 01.10.2014, p. 751-756.

Research output: Contribution to journalArticle

Concolino, D, Degennaro, E, Parini, R, Antuzzi, D, Bembi, B, Benso, A, Carraro, G, Chimenti, C, Colla, L, Cuonzo, MT, Del Rosso, G, Diomedi, M, Feliciani, C, Feriozzi, S, Ficcadenti, A, Frustaci, A, Gnarra, M, Maccarone, M, Mancuso, M, Matucci, A, Mignani, R, Musumeci, B, Nencini, P, Piga, S, Pisani, A, Re, F, Salviati, A, Spada, M, Vultaggio, A, Zachara, E, Zedde, ML & Zoli, PG 2014, 'Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease', European Journal of Internal Medicine, vol. 25, no. 8, pp. 751-756. https://doi.org/10.1016/j.ejim.2014.07.009
Concolino, Daniela ; Degennaro, Emilia ; Parini, Rossella ; Antuzzi, Daniela ; Bembi, Bruno ; Benso, Andrea ; Carraro, Gianni ; Chimenti, Cristina ; Colla, Loredana ; Cuonzo, Maria Teresa ; Del Rosso, Goffredo ; Diomedi, Marina ; Feliciani, Claudio ; Feriozzi, Sandro ; Ficcadenti, Anna ; Frustaci, Andrea ; Gnarra, Maria ; Maccarone, Margherita ; Mancuso, Michelangelo ; Matucci, Andrea ; Mignani, Renzo ; Musumeci, Beatrice ; Nencini, Patrizia ; Piga, Stefania ; Pisani, Antonio ; Re, Federica ; Salviati, Alessandro ; Spada, Marco ; Vultaggio, Alessandra ; Zachara, Elisabetta ; Zedde, Maria Luisa ; Zoli, Pier Giorgio. / Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease. In: European Journal of Internal Medicine. 2014 ; Vol. 25, No. 8. pp. 751-756.
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abstract = "Background: Management of AndersonFabry disease (AFD) is contentious, particularly regarding enzyme replacement therapy (ERT). We report results of a Delphi consensus panel on AFD management.Methods: A survey to gauge consensus among AFD experts was distributed online and responses were analysed. Statements on: 1) diagnosis; 2) when starting ERT; 3) management of ERT infusion and adverse reactions; and 4) follow-up/monitoring response to therapy and progression of disease were included. Responseswithout consensus were discussed with an enlarged panel and modified to reach consensus.Results: 15 experts responded to the survey. After plenary discussion among the enlarged panel, consensus was reached on most statements. Key points were the use of a target organ biopsy to showGb3 deposits in symptomatic women with negative molecular analysis, the need for ERT in symptomatic women and in all patients with persistent signs and symptoms ± organ damage. It was agreed to assess vital signs before ERT administration and use a 0.2 μL filter on infusion to reduce the risk of adverse reactions, that serum should be drawn prior to the first infusion for anti-agalsidase antibody analysis to have a baseline value if a subsequent adverse reaction appears, and that pre-medication is required in those with prior infusion reactions. Holter ECG monitoring, cardiac and brain MRI, renal parameters, and abdominal ultrasound were considered important for the assessment of disease progression and response at ERT.Conclusions: This consensus supplies guidance to healthcare providers on best practice in the management of patients with AFD and indicates a need for more guidance.",
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T1 - Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease

AU - Concolino, Daniela

AU - Degennaro, Emilia

AU - Parini, Rossella

AU - Antuzzi, Daniela

AU - Bembi, Bruno

AU - Benso, Andrea

AU - Carraro, Gianni

AU - Chimenti, Cristina

AU - Colla, Loredana

AU - Cuonzo, Maria Teresa

AU - Del Rosso, Goffredo

AU - Diomedi, Marina

AU - Feliciani, Claudio

AU - Feriozzi, Sandro

AU - Ficcadenti, Anna

AU - Frustaci, Andrea

AU - Gnarra, Maria

AU - Maccarone, Margherita

AU - Mancuso, Michelangelo

AU - Matucci, Andrea

AU - Mignani, Renzo

AU - Musumeci, Beatrice

AU - Nencini, Patrizia

AU - Piga, Stefania

AU - Pisani, Antonio

AU - Re, Federica

AU - Salviati, Alessandro

AU - Spada, Marco

AU - Vultaggio, Alessandra

AU - Zachara, Elisabetta

AU - Zedde, Maria Luisa

AU - Zoli, Pier Giorgio

PY - 2014/10/1

Y1 - 2014/10/1

N2 - Background: Management of AndersonFabry disease (AFD) is contentious, particularly regarding enzyme replacement therapy (ERT). We report results of a Delphi consensus panel on AFD management.Methods: A survey to gauge consensus among AFD experts was distributed online and responses were analysed. Statements on: 1) diagnosis; 2) when starting ERT; 3) management of ERT infusion and adverse reactions; and 4) follow-up/monitoring response to therapy and progression of disease were included. Responseswithout consensus were discussed with an enlarged panel and modified to reach consensus.Results: 15 experts responded to the survey. After plenary discussion among the enlarged panel, consensus was reached on most statements. Key points were the use of a target organ biopsy to showGb3 deposits in symptomatic women with negative molecular analysis, the need for ERT in symptomatic women and in all patients with persistent signs and symptoms ± organ damage. It was agreed to assess vital signs before ERT administration and use a 0.2 μL filter on infusion to reduce the risk of adverse reactions, that serum should be drawn prior to the first infusion for anti-agalsidase antibody analysis to have a baseline value if a subsequent adverse reaction appears, and that pre-medication is required in those with prior infusion reactions. Holter ECG monitoring, cardiac and brain MRI, renal parameters, and abdominal ultrasound were considered important for the assessment of disease progression and response at ERT.Conclusions: This consensus supplies guidance to healthcare providers on best practice in the management of patients with AFD and indicates a need for more guidance.

AB - Background: Management of AndersonFabry disease (AFD) is contentious, particularly regarding enzyme replacement therapy (ERT). We report results of a Delphi consensus panel on AFD management.Methods: A survey to gauge consensus among AFD experts was distributed online and responses were analysed. Statements on: 1) diagnosis; 2) when starting ERT; 3) management of ERT infusion and adverse reactions; and 4) follow-up/monitoring response to therapy and progression of disease were included. Responseswithout consensus were discussed with an enlarged panel and modified to reach consensus.Results: 15 experts responded to the survey. After plenary discussion among the enlarged panel, consensus was reached on most statements. Key points were the use of a target organ biopsy to showGb3 deposits in symptomatic women with negative molecular analysis, the need for ERT in symptomatic women and in all patients with persistent signs and symptoms ± organ damage. It was agreed to assess vital signs before ERT administration and use a 0.2 μL filter on infusion to reduce the risk of adverse reactions, that serum should be drawn prior to the first infusion for anti-agalsidase antibody analysis to have a baseline value if a subsequent adverse reaction appears, and that pre-medication is required in those with prior infusion reactions. Holter ECG monitoring, cardiac and brain MRI, renal parameters, and abdominal ultrasound were considered important for the assessment of disease progression and response at ERT.Conclusions: This consensus supplies guidance to healthcare providers on best practice in the management of patients with AFD and indicates a need for more guidance.

KW - Diagnosis

KW - Fabry disease

KW - Management

KW - Treatment

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