Fabry disease: a review of current management strategies
Identifieur interne : 000342 ( France/Analysis ); précédent : 000341; suivant : 000343Fabry disease: a review of current management strategies
Auteurs : A. Mehta [France, Royaume-Uni] ; M. Beck [France] ; F. Eyskens [France] ; C. Feliciani [France] ; I. Kantola [France] ; U. Ramaswami [France] ; A. Rolfs [France] ; A. Rivera [France] ; S. Waldek [France] ; D. P. Germain [France]Source :
- QJM: An International Journal of Medicine [ 1460-2725 ] ; 2010-09.
Abstract
Fabry disease is an X-linked inherited condition due to the absence or reduction of -galactosidase activity in lysosomes, that results in accumulation of globotriaosylceramide (Gb3) and related neutral glycosphingolipids. Manifestations of Fabry disease include serious and progressive impairment of renal and cardiac function. In addition, patients experience pain, gastrointestinal disturbance, transient ischaemic attacks and strokes. Additional effects on the skin, eyes, ears, lungs and bones are often seen. The first symptoms of classic Fabry disease usually appear in childhood. Despite being X-linked, females can suffer the same severity of symptoms as males, and life expectancy is reduced in both females and males. Enzyme replacement therapy (ERT) can stabilize the progression of the disease. The rarity of the classic form of Fabry disease, however, means that there is a need to improve the knowledge and understanding that the majority of physicians have concerning Fabry disease, in order to avoid misdiagnosis and/or delayed diagnosis. This review aims to raise awareness of the signs and symptoms of Fabry disease; to provide a general diagnostic algorithm and to give an overview of the effects of ERT and concomitant treatments. We highlight a need to develop comprehensive international guidelines to optimize ERT and adjunctive therapy in patients with Fabry disease, including females and children.
Url:
DOI: 10.1093/qjmed/hcq117
Affiliations:
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Mehta</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>From the Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital and University College London School of Medicine, London, UK, Childrens Hospital, University of Mainz, Mainz, Germany, Department of Metabolic Diseases, ZNA Middelheim General Hospital, Antwerp, Belgium, Department of Dermatology, Universit Cattolica del Sacro Cuore, Rome, Italy, Department of Medicine, Turku University Hospital, Turku, Finland, Paediatric Metabolic Unit, Addenbrookes Hospital, Cambridge, UK, Albrecht-Kossel-Institute for Neuroregeneration, Medical Faculty, University of Rostock, Rostock, Germany, Department of Internal Medicine, Complejo Hospitalario, Universitario de Vigo, Hospital Xeral de Vigo, Vigo, Spain, Department of Adult Metabolic Diseases, Salford Royal NHS Foundation Trust, Salford, UK and Division of Medical Genetics, Hpital Raymond Poincar (AP-HP), University of Versailles, St. Quentin en Yvelines, 92380 Garches</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Garches</settlement></placeName></affiliation><affiliation wicri:level="1"><country wicri:rule="url">Royaume-Uni</country></affiliation></author><author><name sortKey="Beck, M" sort="Beck, M" uniqKey="Beck M" first="M." last="Beck">M. Beck</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>From the Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital and University College London School of Medicine, London, UK, Childrens Hospital, University of Mainz, Mainz, Germany, Department of Metabolic Diseases, ZNA Middelheim General Hospital, Antwerp, Belgium, Department of Dermatology, Universit Cattolica del Sacro Cuore, Rome, Italy, Department of Medicine, Turku University Hospital, Turku, Finland, Paediatric Metabolic Unit, Addenbrookes Hospital, Cambridge, UK, Albrecht-Kossel-Institute for Neuroregeneration, Medical Faculty, University of Rostock, Rostock, Germany, Department of Internal Medicine, Complejo Hospitalario, Universitario de Vigo, Hospital Xeral de Vigo, Vigo, Spain, Department of Adult Metabolic Diseases, Salford Royal NHS Foundation Trust, Salford, UK and Division of Medical Genetics, Hpital Raymond Poincar (AP-HP), University of Versailles, St. Quentin en Yvelines, 92380 Garches</wicri:regionArea><wicri:noRegion>92380 Garches</wicri:noRegion><wicri:noRegion>92380 Garches</wicri:noRegion></affiliation></author><author><name sortKey="Eyskens, F" sort="Eyskens, F" uniqKey="Eyskens F" first="F." last="Eyskens">F. Eyskens</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>From the Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital and University College London School of Medicine, London, UK, Childrens Hospital, University of Mainz, Mainz, Germany, Department of Metabolic Diseases, ZNA Middelheim General Hospital, Antwerp, Belgium, Department of Dermatology, Universit Cattolica del Sacro Cuore, Rome, Italy, Department of Medicine, Turku University Hospital, Turku, Finland, Paediatric Metabolic Unit, Addenbrookes Hospital, Cambridge, UK, Albrecht-Kossel-Institute for Neuroregeneration, Medical Faculty, University of Rostock, Rostock, Germany, Department of Internal Medicine, Complejo Hospitalario, Universitario de Vigo, Hospital Xeral de Vigo, Vigo, Spain, Department of Adult Metabolic Diseases, Salford Royal NHS Foundation Trust, Salford, UK and Division of Medical Genetics, Hpital Raymond Poincar (AP-HP), University of Versailles, St. Quentin en Yvelines, 92380 Garches</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Garches</settlement></placeName></affiliation></author><author><name sortKey="Feliciani, C" sort="Feliciani, C" uniqKey="Feliciani C" first="C." last="Feliciani">C. Feliciani</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>From the Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital and University College London School of Medicine, London, UK, Childrens Hospital, University of Mainz, Mainz, Germany, Department of Metabolic Diseases, ZNA Middelheim General Hospital, Antwerp, Belgium, Department of Dermatology, Universit Cattolica del Sacro Cuore, Rome, Italy, Department of Medicine, Turku University Hospital, Turku, Finland, Paediatric Metabolic Unit, Addenbrookes Hospital, Cambridge, UK, Albrecht-Kossel-Institute for Neuroregeneration, Medical Faculty, University of Rostock, Rostock, Germany, Department of Internal Medicine, Complejo Hospitalario, Universitario de Vigo, Hospital Xeral de Vigo, Vigo, Spain, Department of Adult Metabolic Diseases, Salford Royal NHS Foundation Trust, Salford, UK and Division of Medical Genetics, Hpital Raymond Poincar (AP-HP), University of Versailles, St. Quentin en Yvelines, 92380 Garches</wicri:regionArea><wicri:noRegion>92380 Garches</wicri:noRegion><wicri:noRegion>92380 Garches</wicri:noRegion></affiliation></author><author><name sortKey="Kantola, I" sort="Kantola, I" uniqKey="Kantola I" first="I." last="Kantola">I. Kantola</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>From the Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital and University College London School of Medicine, London, UK, Childrens Hospital, University of Mainz, Mainz, Germany, Department of Metabolic Diseases, ZNA Middelheim General Hospital, Antwerp, Belgium, Department of Dermatology, Universit Cattolica del Sacro Cuore, Rome, Italy, Department of Medicine, Turku University Hospital, Turku, Finland, Paediatric Metabolic Unit, Addenbrookes Hospital, Cambridge, UK, Albrecht-Kossel-Institute for Neuroregeneration, Medical Faculty, University of Rostock, Rostock, Germany, Department of Internal Medicine, Complejo Hospitalario, Universitario de Vigo, Hospital Xeral de Vigo, Vigo, Spain, Department of Adult Metabolic Diseases, Salford Royal NHS Foundation Trust, Salford, UK and Division of Medical Genetics, Hpital Raymond Poincar (AP-HP), University of Versailles, St. Quentin en Yvelines, 92380 Garches</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Garches</settlement></placeName></affiliation></author><author><name sortKey="Ramaswami, U" sort="Ramaswami, U" uniqKey="Ramaswami U" first="U." last="Ramaswami">U. Ramaswami</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>From the Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital and University College London School of Medicine, London, UK, Childrens Hospital, University of Mainz, Mainz, Germany, Department of Metabolic Diseases, ZNA Middelheim General Hospital, Antwerp, Belgium, Department of Dermatology, Universit Cattolica del Sacro Cuore, Rome, Italy, Department of Medicine, Turku University Hospital, Turku, Finland, Paediatric Metabolic Unit, Addenbrookes Hospital, Cambridge, UK, Albrecht-Kossel-Institute for Neuroregeneration, Medical Faculty, University of Rostock, Rostock, Germany, Department of Internal Medicine, Complejo Hospitalario, Universitario de Vigo, Hospital Xeral de Vigo, Vigo, Spain, Department of Adult Metabolic Diseases, Salford Royal NHS Foundation Trust, Salford, UK and Division of Medical Genetics, Hpital Raymond Poincar (AP-HP), University of Versailles, St. Quentin en Yvelines, 92380 Garches</wicri:regionArea><wicri:noRegion>92380 Garches</wicri:noRegion><wicri:noRegion>92380 Garches</wicri:noRegion></affiliation></author><author><name sortKey="Rolfs, A" sort="Rolfs, A" uniqKey="Rolfs A" first="A." last="Rolfs">A. Rolfs</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>From the Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital and University College London School of Medicine, London, UK, Childrens Hospital, University of Mainz, Mainz, Germany, Department of Metabolic Diseases, ZNA Middelheim General Hospital, Antwerp, Belgium, Department of Dermatology, Universit Cattolica del Sacro Cuore, Rome, Italy, Department of Medicine, Turku University Hospital, Turku, Finland, Paediatric Metabolic Unit, Addenbrookes Hospital, Cambridge, UK, Albrecht-Kossel-Institute for Neuroregeneration, Medical Faculty, University of Rostock, Rostock, Germany, Department of Internal Medicine, Complejo Hospitalario, Universitario de Vigo, Hospital Xeral de Vigo, Vigo, Spain, Department of Adult Metabolic Diseases, Salford Royal NHS Foundation Trust, Salford, UK and Division of Medical Genetics, Hpital Raymond Poincar (AP-HP), University of Versailles, St. Quentin en Yvelines, 92380 Garches</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Garches</settlement></placeName></affiliation></author><author><name sortKey="Rivera, A" sort="Rivera, A" uniqKey="Rivera A" first="A." last="Rivera">A. Rivera</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>From the Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital and University College London School of Medicine, London, UK, Childrens Hospital, University of Mainz, Mainz, Germany, Department of Metabolic Diseases, ZNA Middelheim General Hospital, Antwerp, Belgium, Department of Dermatology, Universit Cattolica del Sacro Cuore, Rome, Italy, Department of Medicine, Turku University Hospital, Turku, Finland, Paediatric Metabolic Unit, Addenbrookes Hospital, Cambridge, UK, Albrecht-Kossel-Institute for Neuroregeneration, Medical Faculty, University of Rostock, Rostock, Germany, Department of Internal Medicine, Complejo Hospitalario, Universitario de Vigo, Hospital Xeral de Vigo, Vigo, Spain, Department of Adult Metabolic Diseases, Salford Royal NHS Foundation Trust, Salford, UK and Division of Medical Genetics, Hpital Raymond Poincar (AP-HP), University of Versailles, St. Quentin en Yvelines, 92380 Garches</wicri:regionArea><wicri:noRegion>92380 Garches</wicri:noRegion><wicri:noRegion>92380 Garches</wicri:noRegion></affiliation></author><author><name sortKey="Waldek, S" sort="Waldek, S" uniqKey="Waldek S" first="S." last="Waldek">S. Waldek</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>From the Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital and University College London School of Medicine, London, UK, Childrens Hospital, University of Mainz, Mainz, Germany, Department of Metabolic Diseases, ZNA Middelheim General Hospital, Antwerp, Belgium, Department of Dermatology, Universit Cattolica del Sacro Cuore, Rome, Italy, Department of Medicine, Turku University Hospital, Turku, Finland, Paediatric Metabolic Unit, Addenbrookes Hospital, Cambridge, UK, Albrecht-Kossel-Institute for Neuroregeneration, Medical Faculty, University of Rostock, Rostock, Germany, Department of Internal Medicine, Complejo Hospitalario, Universitario de Vigo, Hospital Xeral de Vigo, Vigo, Spain, Department of Adult Metabolic Diseases, Salford Royal NHS Foundation Trust, Salford, UK and Division of Medical Genetics, Hpital Raymond Poincar (AP-HP), University of Versailles, St. Quentin en Yvelines, 92380 Garches</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Garches</settlement></placeName></affiliation></author><author><name sortKey="Germain, D P" sort="Germain, D P" uniqKey="Germain D" first="D. P." last="Germain">D. P. Germain</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>From the Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital and University College London School of Medicine, London, UK, Childrens Hospital, University of Mainz, Mainz, Germany, Department of Metabolic Diseases, ZNA Middelheim General Hospital, Antwerp, Belgium, Department of Dermatology, Universit Cattolica del Sacro Cuore, Rome, Italy, Department of Medicine, Turku University Hospital, Turku, Finland, Paediatric Metabolic Unit, Addenbrookes Hospital, Cambridge, UK, Albrecht-Kossel-Institute for Neuroregeneration, Medical Faculty, University of Rostock, Rostock, Germany, Department of Internal Medicine, Complejo Hospitalario, Universitario de Vigo, Hospital Xeral de Vigo, Vigo, Spain, Department of Adult Metabolic Diseases, Salford Royal NHS Foundation Trust, Salford, UK and Division of Medical Genetics, Hpital Raymond Poincar (AP-HP), University of Versailles, St. Quentin en Yvelines, 92380 Garches</wicri:regionArea><wicri:noRegion>92380 Garches</wicri:noRegion><wicri:noRegion>92380 Garches</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">QJM: An International Journal of Medicine</title><idno type="ISSN">1460-2725</idno><idno type="eISSN">1460-2393</idno><imprint><publisher>Oxford University Press</publisher><date type="published" when="2010-09">2010-09</date><biblScope unit="volume">103</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="641">641</biblScope><biblScope unit="page" to="659">659</biblScope></imprint><idno type="ISSN">1460-2725</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1460-2725</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract">Fabry disease is an X-linked inherited condition due to the absence or reduction of -galactosidase activity in lysosomes, that results in accumulation of globotriaosylceramide (Gb3) and related neutral glycosphingolipids. Manifestations of Fabry disease include serious and progressive impairment of renal and cardiac function. In addition, patients experience pain, gastrointestinal disturbance, transient ischaemic attacks and strokes. Additional effects on the skin, eyes, ears, lungs and bones are often seen. The first symptoms of classic Fabry disease usually appear in childhood. Despite being X-linked, females can suffer the same severity of symptoms as males, and life expectancy is reduced in both females and males. Enzyme replacement therapy (ERT) can stabilize the progression of the disease. The rarity of the classic form of Fabry disease, however, means that there is a need to improve the knowledge and understanding that the majority of physicians have concerning Fabry disease, in order to avoid misdiagnosis and/or delayed diagnosis. This review aims to raise awareness of the signs and symptoms of Fabry disease; to provide a general diagnostic algorithm and to give an overview of the effects of ERT and concomitant treatments. We highlight a need to develop comprehensive international guidelines to optimize ERT and adjunctive therapy in patients with Fabry disease, including females and children.</div></front></TEI><affiliations><list><country><li>France</li><li>Royaume-Uni</li></country><region><li>Île-de-France</li></region><settlement><li>Garches</li></settlement></list><tree><country name="France"><region name="Île-de-France"><name sortKey="Mehta, A" sort="Mehta, A" uniqKey="Mehta A" first="A." last="Mehta">A. Mehta</name></region><name sortKey="Beck, M" sort="Beck, M" uniqKey="Beck M" first="M." last="Beck">M. Beck</name><name sortKey="Eyskens, F" sort="Eyskens, F" uniqKey="Eyskens F" first="F." last="Eyskens">F. Eyskens</name><name sortKey="Feliciani, C" sort="Feliciani, C" uniqKey="Feliciani C" first="C." last="Feliciani">C. Feliciani</name><name sortKey="Germain, D P" sort="Germain, D P" uniqKey="Germain D" first="D. P." last="Germain">D. P. Germain</name><name sortKey="Kantola, I" sort="Kantola, I" uniqKey="Kantola I" first="I." last="Kantola">I. Kantola</name><name sortKey="Ramaswami, U" sort="Ramaswami, U" uniqKey="Ramaswami U" first="U." last="Ramaswami">U. Ramaswami</name><name sortKey="Rivera, A" sort="Rivera, A" uniqKey="Rivera A" first="A." last="Rivera">A. Rivera</name><name sortKey="Rolfs, A" sort="Rolfs, A" uniqKey="Rolfs A" first="A." last="Rolfs">A. Rolfs</name><name sortKey="Waldek, S" sort="Waldek, S" uniqKey="Waldek S" first="S." last="Waldek">S. Waldek</name></country><country name="Royaume-Uni"><noRegion><name sortKey="Mehta, A" sort="Mehta, A" uniqKey="Mehta A" first="A." last="Mehta">A. 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