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Mol Genet Metab. 2018 Jul;124(3):189-203. doi: 10.1016/j.ymgme.2018.06.004. Epub 2018 Jun 12.

European expert consensus statement on therapeutic goals in Fabry disease.

Author information

1
Division of Nephrology, University Clinic, University of Würzburg, Würzburg, Germany. Electronic address: Wanner_C@ukw.de.
2
Leviev Heart Center, Sheba Medical Center, Tel Hashomer, Tel Aviv University, Israel.
3
Division of Neurological Pain Research and Therapy, Department of Neurology, Universitätsklinikum Schleswig-Holstein, Kiel, Germany.
4
Neurological Unit, St Bassiano Hospital, Bassano del Grappa, Italy.
5
Barts Heart Centre, University College London, London, United Kingdom.
6
Department of Medical Endocrinology, Section 2132, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
7
I.M. Sechenov First Moscow State Medical University, Department of Internal Diseases No. 1, Moscow, Russian Federation.
8
French Referral Center for Fabry disease, Division of Medical Genetics and INSERM U1179, University of Versailles, Paris-Saclay University, Montigny, France.
9
Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free London NHS Foundation Trust, University College London, United Kingdom.
10
Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Salford, United Kingdom.
11
Division of Medicine, Turku University Hospital, Turku, Finland.
12
Second Department of Medicine - Department of Cardiovascular Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
13
Department of Nephrology, Infermi Hospital, Rimini, Italy.
14
Health in Code, A Coruña, Spain.
15
Service de Cardiologie, Hôpitaux Universitaires de Genève, Geneva, Switzerland.
16
University Heart Center, University Hospital of Zurich and University of Zurich, Zurich, Switzerland.
17
Department of Genetics, São João Hospital Centre & Faculty of Medicine and "Instituto de Investigação e Inovação em Saúde (i3S)", University of Porto, Porto, Portugal.
18
Unidad de Diálisis, IIS-Fundación Jiménez Díaz/UAM, IRSIN and REDINREN, Madrid, Spain.
19
Cardiovascular Department, San Donato Hospital, Arezzo, Italy.
20
Department of Paediatrics, University of Torino, Torino, Italy.
21
Department of Paediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland.
22
Department of Paediatrics, Haukeland University Hospital and Department of Clinical Medicine, University of Bergen, Bergen, Norway.
23
Serviço de Neurologia, Hospital Egas Moniz, Centro Hospitalar de Lisboa Ocidental, CEDOC Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisboa, Portugal.
24
Department of Cardiology, Innere Klinik II, Katharinen-Hospital, Unna, Germany.
25
Department of Neurology, University of Erlangen-Nuremberg, Erlangen, Germany.

Abstract

BACKGROUND:

Fabry disease, an inherited lysosomal storage disorder, causes multi-organ pathology resulting in substantial morbidity and a reduced life expectancy. Although Fabry disease is an X-linked disorder, both genders may be affected, but generally to a lesser extent in females. The disease spectrum ranges from classic early-onset disease to non-classic later-onset phenotypes, with complications occurring in multiple organs or being confined to a single organ system depending on the stage of the disease. The impact of therapy depends upon patient- and disease-specific factors and timing of initiation.

METHODS:

A European panel of experts collaborated to develop a set of organ-specific therapeutic goals for Fabry disease, based on evidence identified in a recent systematic literature review and consensus opinion.

RESULTS:

A series of organ-specific treatment goals were developed. For each organ system, optimal treatment strategies accounted for inter-patient differences in disease severity, natural history, and treatment responses as well as the negative burden of therapy and the importance of multidisciplinary care. The consensus therapeutic goals and proposed patient management algorithm take into account the need for early disease-specific therapy to delay or slow the progression of disease as well as non-specific adjunctive therapies that prevent or treat the effects of organ damage on quality of life and long-term prognosis.

CONCLUSIONS:

These consensus recommendations help advance Fabry disease management by considering the balance between anticipated clinical benefits and potential therapy-related challenges in order to facilitate individualized treatment, optimize patient care and improve quality of life.

KEYWORDS:

Consensus; Disease management; Enzyme replacement therapy; Fabry disease; Therapeutic goal

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