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Fabry International Network
Clinical Therapeutics/Volume 34, Number 4S, 2012
Fabry International Network Lut De Bare President of the Fabry International Network (FIN) FIN is a worldwide patient organization. Our vision is a world in which every person affected by Fabry disease has the best possible quality of life through early diagnosis, treatment, and cure. Membership is open to any organization that represents Fabry patients, their families, and their caregivers, as well as individuals in countries where there is no such organization. Our mission is to be a global, independent network of Fabry-patient associations whose purposes are to collaborate, to communicate, and to promote best practice to support those affected by Fabry disease. FIN work focuses on communication with the Fabry community, including patients, the medical community, and industrial partners, through meetings, congresses, teleconferences, newsletters, and other Web-based tools. FIN also aims at facilitating access to therapy when needed, conducting membership surveys, and sharing results with the community. FIN is pleased to be seen as a full partner by the pharmaceutical industry and the FIN Medical Advisory Board. With those 2 partners and the medical community, FIN can discuss in more depth how to assist in keeping things moving for the best for all Fabry patients worldwide.
Managing Cardiac Complications: Drugs and Devices Dr. Frank Weidemann University Hospital, Würzburg, Germany Fabry disease is a lysosomal storage disorder that is caused by a deficiency of ␣-galactosidase A.1 A causal treatment, enzyme-replacement therapy, has been available since 2001.2 The availability of this specific treatment has resulted in a greater awareness of the disease among the medical profession and hence an early diagnosis in most cases. However, there are still a number of patients in whom the disease is detected only at an advanced stage.2 In these patients, an additional, organ-targeted adjuvant treatment is of particular importance.3 Thus, for the regression of left ventricular hypertrophy, therapy with an angiotensin-converting enzyme inhibitor might be necessary. Moreover, all patients with tachyarrhythmia should be prescribed -blocker therapy, which at the same time protects against potential ventricular arrhythmias. However, as many Fabry patients also have bradycardia—which should be ruled out by 24-hour Holter ECG monitoring beforehand, especially in patients with typical symptoms such as dizziness or syncope—-blocker therapy is not recommended. Atrial fibrillation mandates the institution of treatment with phenprocoumon (a coumarin derivative marketed in Europe). However, restoration of sinus rhythm by cardioversion is still an option.3 Fabry patients typically experience symptomatic bradycardia even if they are not being treated with drugs known to produce bradycardia. Pacemaker therapy is therefore indicated in these patients. Prior to implantation, it is important to rule out malignant ventricular arrhythmia, which typically occurs in end-stage cardiomyopathy. A cardiac defibrillator should be implanted in these cases.3 Given the limited number of patients, there are no separate cardiologic Fabry guidelines for adjuvant pharmacologic and/or interventional treatments. Generally accepted treatment guidelines should be followed, such as those established for patients with hypertrophic cardiomyopathy and/or heart failure.3 REFERENCES 1. Desnick R, Ionnou Y, Eng C. Fabry disease: alpha galactosidase A deficiency. In: Scriver C, Beaudet A, Sly W, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 1995;2741–2784. 2. Weidemann F, Niemann M, Breunig F, et al. Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation. 2009;119:524 –529. 3. Weidemann F, Sommer C, Duning T, et al. Department-related tasks and organ-targeted therapy in Fabry disease: an interdisciplinary challenge. Am J Med. 2010;123:658.
2012
e15
Fabry International Network Lut De Bare President of the Fabry International Network (FIN) FIN is a worldwide patient organization. Our vision is a world in which every person affected by Fabry disease has the best possible quality of life through early diagnosis, treatment, and cure. Membership is open to any organization that represents Fabry patients, their families, and their caregivers, as well as individuals in countries where there is no such organization. Our mission is to be a global, independent network of Fabry-patient associations whose purposes are to collaborate, to communicate, and to promote best practice to support those affected by Fabry disease. FIN work focuses on communication with the Fabry community, including patients, the medical community, and industrial partners, through meetings, congresses, teleconferences, newsletters, and other Web-based tools. FIN also aims at facilitating access to therapy when needed, conducting membership surveys, and sharing results with the community. FIN is pleased to be seen as a full partner by the pharmaceutical industry and the FIN Medical Advisory Board. With those 2 partners and the medical community, FIN can discuss in more depth how to assist in keeping things moving for the best for all Fabry patients worldwide.
Managing Cardiac Complications: Drugs and Devices Dr. Frank Weidemann University Hospital, Würzburg, Germany Fabry disease is a lysosomal storage disorder that is caused by a deficiency of ␣-galactosidase A.1 A causal treatment, enzyme-replacement therapy, has been available since 2001.2 The availability of this specific treatment has resulted in a greater awareness of the disease among the medical profession and hence an early diagnosis in most cases. However, there are still a number of patients in whom the disease is detected only at an advanced stage.2 In these patients, an additional, organ-targeted adjuvant treatment is of particular importance.3 Thus, for the regression of left ventricular hypertrophy, therapy with an angiotensin-converting enzyme inhibitor might be necessary. Moreover, all patients with tachyarrhythmia should be prescribed -blocker therapy, which at the same time protects against potential ventricular arrhythmias. However, as many Fabry patients also have bradycardia—which should be ruled out by 24-hour Holter ECG monitoring beforehand, especially in patients with typical symptoms such as dizziness or syncope—-blocker therapy is not recommended. Atrial fibrillation mandates the institution of treatment with phenprocoumon (a coumarin derivative marketed in Europe). However, restoration of sinus rhythm by cardioversion is still an option.3 Fabry patients typically experience symptomatic bradycardia even if they are not being treated with drugs known to produce bradycardia. Pacemaker therapy is therefore indicated in these patients. Prior to implantation, it is important to rule out malignant ventricular arrhythmia, which typically occurs in end-stage cardiomyopathy. A cardiac defibrillator should be implanted in these cases.3 Given the limited number of patients, there are no separate cardiologic Fabry guidelines for adjuvant pharmacologic and/or interventional treatments. Generally accepted treatment guidelines should be followed, such as those established for patients with hypertrophic cardiomyopathy and/or heart failure.3 REFERENCES 1. Desnick R, Ionnou Y, Eng C. Fabry disease: alpha galactosidase A deficiency. In: Scriver C, Beaudet A, Sly W, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 1995;2741–2784. 2. Weidemann F, Niemann M, Breunig F, et al. Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation. 2009;119:524 –529. 3. Weidemann F, Sommer C, Duning T, et al. Department-related tasks and organ-targeted therapy in Fabry disease: an interdisciplinary challenge. Am J Med. 2010;123:658.
2012
e15