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P01—The Fabry International Network
Clinical Therapeutics/Volume 34, Number 4S, 2012
P01—THE FABRY INTERNATIONAL NETWORK L. De Baere1; E. Schenk2; A. Koning3; K. Bosman4; M. Fookes5; J. Johnson6; M. Koning3; and A. Meriluoto7 1 Fabry International Network, Melsele, Belgium; 2Fabry International Network, Oosterwolde, the Netherlands; 3Fabry International Network, Edmonton, Alberta, Canada; 4Fabry International Network, Kapelle, the Netherlands; 5Fabry International Network, Willoughby, Australia; 6Fabry International Network, Concordia, Missouri; and 7Fabry International Network, Vantaa, Finland Fabry disease is a very rare, inherited, life-threatening disease that affects only about 10,000 people worldwide. It takes on average 17 years to diagnose this metabolic storage disorder. Patients lack sufficient enzyme to break down fatty deposits, resulting in debilitating pain, organ failure, and premature death. The only treatment currently available is enzyme-replacement therapy. In December 2005, the Fabry International Network (FIN) was incorporated as a nonprofit organization in the Netherlands. Membership of FIN is open to any patient organization in which Fabry patients are represented (currently 23 in 21 countries) but may be extended by invitation to individuals in exceptional circumstances. FIN’s vision is of a world in which every person affected by Fabry disease has the best quality of life possible through early diagnosis, treatment, and cure. The mission of FIN is to be a global, independent network of Fabry patient associations whose purpose is to collaborate, communicate, and promote best practice to support those affected by Fabry disease. FIN has developed a poster to raise awareness of FIN in efforts to educate individual Fabry patient organizations in order to develop a truly worldwide Fabry patient network.
P02—FABRY INTERNATIONAL NETWORK: FABRY PATIENT SURVEY R. Sedal1; E. Schenk2; A. Koning3; K. Bosman4; L. De Baere5; and M. Koning3 1 Fabry International Network, Bergen, Norway; 2Fabry International Network, Oosterwolde, the Netherlands; 3Fabry International Network, Edmonton, Alberta, Canada; 4Fabry International Network, Kapelle, the Netherlands; and 5Fabry International Network, Melsele, Belgium Fabry disease is a very rare inherited life-threatening disease that affects only about 5000 –10,000 people worldwide and is caused by a lack of an enzyme that breaks down fatty deposits, resulting in debilitating pain, organ failure, and premature death. The only current treatment available is enzyme-replacement therapy (ERT). In 2005, the Fabry International Network (FIN) was incorporated in the Netherlands as a nonprofit organization. To date, there are 23 member organizations in 21 countries in North and South America, Europe, and the South Pacific. FIN has developed an electronic on-line survey; the objective of the survey was to obtain input and feedback from the current 23 FIN member organizations and their respective leader(s), as well as the FIN Medical Advisory Board. This tool is 1 method to improve 2-way communications, with 1 goal—to reach consensus on FIN’s priorities and action plan for 2010 –2011. In addition, the survey has: (1) defined FIN’s long-term goals and objectives; (2) enhanced development of FIN’s database of all Fabry organizations, their leadership contacts, as well as their particular areas of interest/skills; and (3) provided useful data on the needs of Fabry patients and the
2012
organizations that represent patients, as well as to understand key concerns, issues, and unmet needs. The plan is that data collected will be shared internationally.
P03—EXCESSIVE DAYTIME SLEEPINESS IS A COMMON SYMPTOM IN FABRY DISEASE T. Duning1; J. Stypmann2; R. Schaefer3; and P. Young1 Department of Neurology, Hospital of the University of Münster, Germany; 2Department of Cardiology and Angiology, Hospital of the University of Münster, Germany; and 3Department of Internal Medicine D (Nephrology), Hospital of the University of Münster, Germany Introduction: Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by deficient activity of the enzyme ␣-galactosidase A, resulting in an vasculopathic involvement of various organ systems. A known symptom of FD is chronic fatigue. FD is also associated with marked cerebral vasculopathy. Aims: Since cerebral white matter changes are associated with sleepdisordered breathing, which contribute to excessive daytime sleepiness (EDS) and subjective measures of daytime fatigue, the aims of this study were to determine the prevalence of daytime sleepiness in FD, to differentiate between EDS and chronic fatigue in FD patients, and to assess its impact on quality of life. Design and Measurements: Clinical data, assessed by a standardized questionnaire, of 49 biochemically and genetically proven FD patients (27 males; mean age, 43 years) were analyzed for symptoms of Fabry disease. Severity was quantified according to the Mainz Severity Score Index (MSSI). Sleepiness, fatigue, and quality of life were measured using the Epworth Sleepiness Scale (ESS), Fatigue Severity Scale (FSS), and the SF-36 health-related quality of life survey. Additionally, an instructive case of EDS in an FD patient from our sleep laboratory was presented. Results: The average clinical stage of patients was mild to moderate (mean MSSI, 15; range, 0 –51). With a frequency of 68%, EDS exceeds the prevalence of other common symptoms of FD (angiokeratomas, 61%; acroparesthesia, 51%; renal, 29%; and cardiac involvement, 27%), and the prevalence of chronic fatigue (48%). EDS was independently associated with the physical component summary of the SF-36 data (corrected R2 ⫽ – 0.323; P ⬍ 0.001), and ESS and age explained a quarter of variance in mental component summary (corrected R2 ⫽ – 0.253; P ⬍ 0.001). Conclusions: EDS is a common and underdiagnosed symptom in FD patients, accompanied by a significant impact on quality of life. EDS might be caused by nocturnal breathing disorders due to an affection of brain regions associated with respiratory control in FD. 1
P04 —NEUROPHYSIOLOGIC EXAMINATIONS IN PATIENTS WITH FABRY-ANDERSON DISEASE A. Hajas; J. Grubits; and Z. Varga Department of Neurology, Elisabeth Hospital, Sopron, Hungary Introduction: There are only limited data available in the literature on the neuroelectrophysiologic changes in Fabry disease. Methods and Results: We examined 2 male members of a family with Fabry disease, who are twins. They have a mutation (c.47Timin ¡ Citosin) that has not been described before. One of them has been treated with agalsidase beta since 2002; the other has been treated with agalsidase alfa since 2005. We performed electroneurography, RR interval analysis, and multimodal evoked potentials (visual evoked potential [VEP], brain stem auditory evoked potential [BAEP], and somatosensory evoked potential [SEP]) investigations.
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P01—THE FABRY INTERNATIONAL NETWORK L. De Baere1; E. Schenk2; A. Koning3; K. Bosman4; M. Fookes5; J. Johnson6; M. Koning3; and A. Meriluoto7 1 Fabry International Network, Melsele, Belgium; 2Fabry International Network, Oosterwolde, the Netherlands; 3Fabry International Network, Edmonton, Alberta, Canada; 4Fabry International Network, Kapelle, the Netherlands; 5Fabry International Network, Willoughby, Australia; 6Fabry International Network, Concordia, Missouri; and 7Fabry International Network, Vantaa, Finland Fabry disease is a very rare, inherited, life-threatening disease that affects only about 10,000 people worldwide. It takes on average 17 years to diagnose this metabolic storage disorder. Patients lack sufficient enzyme to break down fatty deposits, resulting in debilitating pain, organ failure, and premature death. The only treatment currently available is enzyme-replacement therapy. In December 2005, the Fabry International Network (FIN) was incorporated as a nonprofit organization in the Netherlands. Membership of FIN is open to any patient organization in which Fabry patients are represented (currently 23 in 21 countries) but may be extended by invitation to individuals in exceptional circumstances. FIN’s vision is of a world in which every person affected by Fabry disease has the best quality of life possible through early diagnosis, treatment, and cure. The mission of FIN is to be a global, independent network of Fabry patient associations whose purpose is to collaborate, communicate, and promote best practice to support those affected by Fabry disease. FIN has developed a poster to raise awareness of FIN in efforts to educate individual Fabry patient organizations in order to develop a truly worldwide Fabry patient network.
P02—FABRY INTERNATIONAL NETWORK: FABRY PATIENT SURVEY R. Sedal1; E. Schenk2; A. Koning3; K. Bosman4; L. De Baere5; and M. Koning3 1 Fabry International Network, Bergen, Norway; 2Fabry International Network, Oosterwolde, the Netherlands; 3Fabry International Network, Edmonton, Alberta, Canada; 4Fabry International Network, Kapelle, the Netherlands; and 5Fabry International Network, Melsele, Belgium Fabry disease is a very rare inherited life-threatening disease that affects only about 5000 –10,000 people worldwide and is caused by a lack of an enzyme that breaks down fatty deposits, resulting in debilitating pain, organ failure, and premature death. The only current treatment available is enzyme-replacement therapy (ERT). In 2005, the Fabry International Network (FIN) was incorporated in the Netherlands as a nonprofit organization. To date, there are 23 member organizations in 21 countries in North and South America, Europe, and the South Pacific. FIN has developed an electronic on-line survey; the objective of the survey was to obtain input and feedback from the current 23 FIN member organizations and their respective leader(s), as well as the FIN Medical Advisory Board. This tool is 1 method to improve 2-way communications, with 1 goal—to reach consensus on FIN’s priorities and action plan for 2010 –2011. In addition, the survey has: (1) defined FIN’s long-term goals and objectives; (2) enhanced development of FIN’s database of all Fabry organizations, their leadership contacts, as well as their particular areas of interest/skills; and (3) provided useful data on the needs of Fabry patients and the
2012
organizations that represent patients, as well as to understand key concerns, issues, and unmet needs. The plan is that data collected will be shared internationally.
P03—EXCESSIVE DAYTIME SLEEPINESS IS A COMMON SYMPTOM IN FABRY DISEASE T. Duning1; J. Stypmann2; R. Schaefer3; and P. Young1 Department of Neurology, Hospital of the University of Münster, Germany; 2Department of Cardiology and Angiology, Hospital of the University of Münster, Germany; and 3Department of Internal Medicine D (Nephrology), Hospital of the University of Münster, Germany Introduction: Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by deficient activity of the enzyme ␣-galactosidase A, resulting in an vasculopathic involvement of various organ systems. A known symptom of FD is chronic fatigue. FD is also associated with marked cerebral vasculopathy. Aims: Since cerebral white matter changes are associated with sleepdisordered breathing, which contribute to excessive daytime sleepiness (EDS) and subjective measures of daytime fatigue, the aims of this study were to determine the prevalence of daytime sleepiness in FD, to differentiate between EDS and chronic fatigue in FD patients, and to assess its impact on quality of life. Design and Measurements: Clinical data, assessed by a standardized questionnaire, of 49 biochemically and genetically proven FD patients (27 males; mean age, 43 years) were analyzed for symptoms of Fabry disease. Severity was quantified according to the Mainz Severity Score Index (MSSI). Sleepiness, fatigue, and quality of life were measured using the Epworth Sleepiness Scale (ESS), Fatigue Severity Scale (FSS), and the SF-36 health-related quality of life survey. Additionally, an instructive case of EDS in an FD patient from our sleep laboratory was presented. Results: The average clinical stage of patients was mild to moderate (mean MSSI, 15; range, 0 –51). With a frequency of 68%, EDS exceeds the prevalence of other common symptoms of FD (angiokeratomas, 61%; acroparesthesia, 51%; renal, 29%; and cardiac involvement, 27%), and the prevalence of chronic fatigue (48%). EDS was independently associated with the physical component summary of the SF-36 data (corrected R2 ⫽ – 0.323; P ⬍ 0.001), and ESS and age explained a quarter of variance in mental component summary (corrected R2 ⫽ – 0.253; P ⬍ 0.001). Conclusions: EDS is a common and underdiagnosed symptom in FD patients, accompanied by a significant impact on quality of life. EDS might be caused by nocturnal breathing disorders due to an affection of brain regions associated with respiratory control in FD. 1
P04 —NEUROPHYSIOLOGIC EXAMINATIONS IN PATIENTS WITH FABRY-ANDERSON DISEASE A. Hajas; J. Grubits; and Z. Varga Department of Neurology, Elisabeth Hospital, Sopron, Hungary Introduction: There are only limited data available in the literature on the neuroelectrophysiologic changes in Fabry disease. Methods and Results: We examined 2 male members of a family with Fabry disease, who are twins. They have a mutation (c.47Timin ¡ Citosin) that has not been described before. One of them has been treated with agalsidase beta since 2002; the other has been treated with agalsidase alfa since 2005. We performed electroneurography, RR interval analysis, and multimodal evoked potentials (visual evoked potential [VEP], brain stem auditory evoked potential [BAEP], and somatosensory evoked potential [SEP]) investigations.
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