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Стратегия лечения болезни Фабри
Моисеев С.В., Каровайкина Е.А., Буланов Н.М. и др. Стратегия лечения болезни Фабри. Consilium Medicum. 2018; 20 (12): 94–98. DOI: 10.26442/20751753.2018.12.000001
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Moiseev S.V., Karovaikina E.A., Bulanov N.M. et al. Fabry disease treatment strategy. Consilium Medicum. 2018; 20 (12): 94–98. DOI: 10.26442/20751753.2018.12.000001
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Аннотация
Болезнь Фабри – это орфанное заболевание, сцепленное с Х-хромосомой, которое характеризуется поражением различных органов, в том числе почек, сердца, центральной и периферической нервной системы, кожи, органа зрения и др. Учитывая системность заболевания, необходимо проводить лечение сопутствующих нарушений. Однако проявления болезни Фабри часто отличаются у разных пациентов, поэтому терапевтические цели должны быть индивидуальными. Необходимо регулярно переоценивать цели лечения с учетом изменяющихся представлений о течении заболевания. В статье рассматриваются практические рекомендации по лечению болезни Фабри.
Ключевые слова: болезнь Фабри, цели лечения, ферментозаместительная терапия, лечение заболевания.
Ключевые слова: болезнь Фабри, цели лечения, ферментозаместительная терапия, лечение заболевания.
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Fabry disease is a rare X-linked inherited disorder involving kidneys, heart, central and peripheral nervous system, skin, eyes and other organs. As Fabry disease causes tissue damage in a number of organ systems, patients with Fabry disease often also receive adjunctive therapies for complications. However, manifestations of Fabry disease often vary in different patients; therefore, therapeutic goals need to be individualized. Furthermore, as our understanding of Fabry disease improves, it is important to regularly reevaluate the therapeutic goals. The authors present practical guidelines on treatment of Fabry disease and individual therapeutic goals.
Key words: Fabry disease, therapeutic goal, enzyme replacement therapy, disease management.
Key words: Fabry disease, therapeutic goal, enzyme replacement therapy, disease management.
Полный текст
Список литературы
1. Zarate YA, Hopkin RJ. Fabry’s disease. Lancet 2008; 372 (9647): 1427–35.
2. Popli S, Leehey DJ, Molnar ZV et al. Demonstration of Fabry’s disease deposits in placenta. Am J Obstet Gynecol 1990; 162 (2): 464–5.
3. Vedder AC, Strijland A, vd Bergh Weerman MA et al. Manifestations of Fabry disease in placental tissue. J Inherit Metab Dis 2006; 29 (1): 106–11.
4. Hopkin RJ, Bissler J, Banikazemi M et al. Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry. Pediatr Res 2008; 64 (5): 550–5.
5. Eng CM, Fletcher J, Wilcox WR et al. Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 2007; 30 (2): 184–92.
6. Schiffmann R, Kopp JB, Austin HA et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001; 285 (21): 2743–9.
7. Eng CM, Guffon N, Wilcox RW et al. Safety and efficacy of recombinant human a-galactosidase A replacement therapy in Fabry’s disease. N Engl J Med 2001; 345 (1): 9–16.
8. Wanner C, Arad M, Baron R et al. European expert consensus statement on therapeutic goals in Fabry disease. Mol Genet Metab 2018; 124 (3): 189–203.
9. Beck M. Agalsidase alfa – a preparation for enzyme replacement therapy in Anderson–Fabry disease. Expert Opin Investig Drugs 2002; 11 (6): 851–8.
10. Keating GM, Simpson D. Agalsidase beta: A review of its use in the management of Fabry disease. Drugs 2007; 67 (3): 435–55.
11. Germain DP, Hughes DA, Nicholls K et al. Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat. N Engl J Med 2016; 375 (6): 545–55.
12. Hughes DA, Nicholls K, Shankar SP et al. Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study. J Med Genet 2017; 54 (4): 288–96.
13. Ortiz A, Germain DP, Desnick RJ et al. Fabry disease revisited: Management and treatment recommendations for adult patients. Mol Genet Metab 2018; 123: 416–27.
14. Gibas AL, Klatt R, Johnson J et al. A survey of the pain experienced by males and females with Fabry disease. Pain Res Manag 2006; 11 (3): 185–92.
15. Hoffmann B, Beck M, Sunder-Plassmann G et al. Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy – A retrospective analysis from the Fabry outcome survey. Clin J Pain 2007; 23 (6): 535–42.
16. Üçeyler N, Ganendiran S, Kramer D et al. Characterization of pain in Fabry disease. Clin J Pain 2014; 30 (10): 915–20.
17. Schiffmann R. Neuropathy and Fabry disease: pathogenesis and enzyme replacement therapy. Acta Neurol Belg 2006; 106 (2): 61–5.
18. Biegstraaten M, Hollak CEM, Bakkers M et al. Small fiber neuropathy in Fabry disease. Mol Genet Metab 2012; 106 (2): 135–41.
19. Üçeyler N, Magg B, Thomas P et al. A comprehensive Fabry-related pain questionnaire for adult patients. Pain 2014; 155 (11): 2301–5.
20. Burlina AP, Sims KB, Politei JM et al. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: The report of an expert panel. BMC Neurol 2011; 11 (1): 61.
21. National Institute for Health and Care Excellence. Neuropathic pain – pharmacological management. The pharmacological management of neuropathic pain in adults in non-specialist settings. NICE clinical guideline. 2013; p. 173.
22. Schuller Y, Linthorst GE, Hollak CEM et al. Pain management strategies for neuropathic pain in Fabry disease – a systematic review. BMC Neurol 2016; 16 (1): 25.
23. Моисеев С.В., Новиков П.И., Фомин В.В. Лечение болезни Фабри. Клин. фармакология и терапия. 2016; 25 (4): 63–70. / Moiseev S.V., Novikov P.I., Fomin V.V. Lechenie bolezni Fabri. Klin. farmakologiia i terapiia. 2016; 25 (4): 63–70. [in Russian]
24. Linhart A, Kampmann C, Zamorano JL et al. Cardiac manifestations of Anderson-Fabry disease: Results from the international Fabry outcome survey. Eur Heart J 2007; 28 (10): 1228–35.
25. Kampmann C, Linhart A, Baehner F et al. Onset and progression of the Anderson-Fabry disease related cardiomyopathy. Int J Cardiol 2008; 130 (3): 367–73.
26. Shah JS, Hughes DA, Sachdev B et al. Prevalence and clinical significance of cardiac arrhythmia in Anderson-Dabry disease. Am J Cardiol 2005; 96 (6): 842–6.
27. Weidemann F, Strotmann JM, Niemann M et al. Heart Valve Involvement in Fabry Cardiomyopathy. Ultrasound Med Biol 2009; 35 (5): 730–5.
28. Seydelmann N, Wanner C, Störk S et al. Fabry disease and the heart. Best Pract Res Clin Endocrinol Metab 2015; 29 (2): 195–204.
29. Hughes DA, Elliot PM, Shah J et al. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: A randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa. Heart 2008; 94 (2): 153–8.
30. Imbriaco M, Pisani A, Spinelli L et al. Effects of enzyme-replacement therapy in patients with Anderson-Fabry disease: A prospective longterm cardiac magnetic resonance imaging study. Heart 2009; 95 (13): 1103–7.
31. Kampmann C, Perrin A, Beck M. Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years’ treatment. Orphanet J Rare Dis 2015; 10 (1): 21–7.
32. Weidemann F, Niemann M, Störk S et al. Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: Evidence for disease progression towards serious complications. J Intern Med 2013; 274 (4): 331–41.
33. Каровайкина Е.А., Моисеев С.В., Буланов Н.М. и др. Распространенность и основные проявления поражения почек у пациентов с болезнью Фабри. Клин. фармакология и терапия. 2018; 27 (4): 46–52. / Karovaikina E.A., Moiseev S.V., Bulanov N.M. i dr. Rasprostranennost' i osnovnye proiavleniia porazheniia pochek u patsientov s bolezn'iu Fabri. Klin. farmakologiia i terapiia. 2018; 27 (4): 46–52. [in Russian]
34. Fogo AB, Bostad L, Svarstad E et al. Scoring system for renal pathology in Fabry disease: Report of the International Study Group of Fabry Nephropathy (ISGFN). Nephrol Dial Transplant 2010; 25 (7): 2168–77.
35. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001; 38 (11): 750–60.
35. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001; 38 (11): 750–60.
36. Schiffmann R, Warnock DG, Banikazemi M et al. Fabry disease: Progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 2009; 24 (7): 2102–11.
37. Warnock DG, Ortiz A, Mauer M et al. Renal outcomes of agalsidase beta treatment for Fabry disease: Role of proteinuria and timing of treatment initiation. Nephrol Dial Transplant 2012; 27 (3): 1042–9.
38. Arends M, Biegstraaten M, Hughes DA et al. Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors. PLoS One 2017; 12 (8): e0182379.
39. Wanner C, Oliveira JP, Ortiz A et al. Prognostic indicators of renal disease progression in adults with fabry disease: Natural history data from the Fabry Registry. Clin J Am Soc Nephrol 2010; 5 (12): 2220–8.
40. Warnock DG, Thomas CP, Vujkovac B et al. Antiproteinuric therapy and Fabry nephropathy: Factors associated with preserved kidney function during agalsidase-beta therapy. J Med Genet 2015; 52 (12): 860–6.
39. Wanner C, Oliveira JP, Ortiz A et al. Prognostic indicators of renal disease progression in adults with fabry disease: Natural history data from the Fabry Registry. Clin J Am Soc Nephrol 2010; 5 (12): 2220–8.
40. Warnock DG, Thomas CP, Vujkovac B et al. Antiproteinuric therapy and Fabry nephropathy: Factors associated with preserved kidney function during agalsidase-beta therapy. J Med Genet 2015; 52 (12): 860–6.
41. Shah T, Gill J, Malhotra N et al. Kidney transplant outcomes in patients with Fabry disease. Transplantation 2009; 87 (2): 280–5.
42. Talbot AS, Lewis NT, Nicholls KM. Cardiovascular outcomes in Fabry disease are linked to severity of chronic kidney disease. Heart 2015; 101 (4): 287–93.
43. Sims K, Politei J, Banikazemi M et al. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: Natural history data from the Fabry registry. Stroke 2009; 40 (3): 788–94.
44. Fellgiebel A, Gartenschläger M, Wildberger K et al. Enzyme replacement therapy stabilized white matter lesion progression in Fabry disease. Cerebrovasc Dis 2014; 38 (6): 448–56.
45. Hoffmann B, Schwarz M, Mehta A et al. Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. Clin Gastroenterol Hepatol 2007; 5 (12): 1447–53.
46. Suntjens EB, Smid BE, Biegstraaten M et al. Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapy. J Inherit Metab Dis 2015; 38 (2): 351–8.
46. Suntjens EB, Smid BE, Biegstraaten M et al. Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapy. J Inherit Metab Dis 2015; 38 (2): 351–8.
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1. Zarate YA, Hopkin RJ. Fabry’s disease. Lancet 2008; 372 (9647): 1427–35.
2. Popli S, Leehey DJ, Molnar ZV et al. Demonstration of Fabry’s disease deposits in placenta. Am J Obstet Gynecol 1990; 162 (2): 464–5. 3. Vedder AC, Strijland A, vd Bergh Weerman MA et al. Manifestations of Fabry disease in placental tissue. J Inherit Metab Dis 2006; 29 (1): 106–11.
4. Hopkin RJ, Bissler J, Banikazemi M et al. Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry. Pediatr Res 2008; 64 (5): 550–5.
5. Eng CM, Fletcher J, Wilcox WR et al. Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 2007; 30 (2): 184–92.
6. Schiffmann R, Kopp JB, Austin HA et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001; 285 (21): 2743–9.
7. Eng CM, Guffon N, Wilcox RW et al. Safety and efficacy of recombinant human a-galactosidase A replacement therapy in Fabry’s disease. N Engl J Med 2001; 345 (1): 9–16.
8. Wanner C, Arad M, Baron R et al. European expert consensus statement on therapeutic goals in Fabry disease. Mol Genet Metab 2018; 124 (3): 189–203.
9. Beck M. Agalsidase alfa – a preparation for enzyme replacement therapy in Anderson–Fabry disease. Expert Opin Investig Drugs 2002; 11 (6): 851–8.
10. Keating GM, Simpson D. Agalsidase beta: A review of its use in the management of Fabry disease. Drugs 2007; 67 (3): 435–55.
11. Germain DP, Hughes DA, Nicholls K et al. Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat. N Engl J Med 2016; 375 (6): 545–55.
12. Hughes DA, Nicholls K, Shankar SP et al. Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study. J Med Genet 2017; 54 (4): 288–96.
13. Ortiz A, Germain DP, Desnick RJ et al. Fabry disease revisited: Management and treatment recommendations for adult patients. Mol Genet Metab 2018; 123: 416–27.
14. Gibas AL, Klatt R, Johnson J et al. A survey of the pain experienced by males and females with Fabry disease. Pain Res Manag 2006; 11 (3): 185–92.
15. Hoffmann B, Beck M, Sunder-Plassmann G et al. Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy – A retrospective analysis from the Fabry outcome survey. Clin J Pain 2007; 23 (6): 535–42.
16. Üçeyler N, Ganendiran S, Kramer D et al. Characterization of pain in Fabry disease. Clin J Pain 2014; 30 (10): 915–20.
17. Schiffmann R. Neuropathy and Fabry disease: pathogenesis and enzyme replacement therapy. Acta Neurol Belg 2006; 106 (2): 61–5.
18. Biegstraaten M, Hollak CEM, Bakkers M et al. Small fiber neuropathy in Fabry disease. Mol Genet Metab 2012; 106 (2): 135–41.
19. Üçeyler N, Magg B, Thomas P et al. A comprehensive Fabry-related pain questionnaire for adult patients. Pain 2014; 155 (11): 2301–5.
20. Burlina AP, Sims KB, Politei JM et al. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: The report of an expert panel. BMC Neurol 2011; 11 (1): 61.
21. National Institute for Health and Care Excellence. Neuropathic pain – pharmacological management. The pharmacological management of neuropathic pain in adults in non-specialist settings. NICE clinical guideline. 2013; p. 173.
22. Schuller Y, Linthorst GE, Hollak CEM et al. Pain management strategies for neuropathic pain in Fabry disease – a systematic review. BMC Neurol 2016; 16 (1): 25.
23. Moiseev S.V., Novikov P.I., Fomin V.V. Lechenie bolezni Fabri. Klin. farmakologiia i terapiia. 2016; 25 (4): 63–70. [in Russian]
24. Linhart A, Kampmann C, Zamorano JL et al. Cardiac manifestations of Anderson-Fabry disease: Results from the international Fabry outcome survey. Eur Heart J 2007; 28 (10): 1228–35.
25. Kampmann C, Linhart A, Baehner F et al. Onset and progression of the Anderson-Fabry disease related cardiomyopathy. Int J Cardiol 2008; 130 (3): 367–73.
26. Shah JS, Hughes DA, Sachdev B et al. Prevalence and clinical significance of cardiac arrhythmia in Anderson-Dabry disease. Am J Cardiol 2005; 96 (6): 842–6.
27. Weidemann F, Strotmann JM, Niemann M et al. Heart Valve Involvement in Fabry Cardiomyopathy. Ultrasound Med Biol 2009; 35 (5): 730–5.
28. Seydelmann N, Wanner C, Störk S et al. Fabry disease and the heart. Best Pract Res Clin Endocrinol Metab 2015; 29 (2): 195–204.
29. Hughes DA, Elliot PM, Shah J et al. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: A randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa. Heart 2008; 94 (2): 153–8.
30. Imbriaco M, Pisani A, Spinelli L et al. Effects of enzyme-replacement therapy in patients with Anderson-Fabry disease: A prospective longterm cardiac magnetic resonance imaging study. Heart 2009; 95 (13): 1103–7.
31. Kampmann C, Perrin A, Beck M. Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years’ treatment. Orphanet J Rare Dis 2015; 10 (1): 21–7.
32. Weidemann F, Niemann M, Störk S et al. Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: Evidence for disease progression towards serious complications. J Intern Med 2013; 274 (4): 331–41.
33. Karovaikina E.A., Moiseev S.V., Bulanov N.M. i dr. Rasprostranennost' i osnovnye proiavleniia porazheniia pochek u patsientov s bolezn'iu Fabri. Klin. farmakologiia i terapiia. 2018; 27 (4): 46–52. [in Russian]
34. Fogo AB, Bostad L, Svarstad E et al. Scoring system for renal pathology in Fabry disease: Report of the International Study Group of Fabry Nephropathy (ISGFN). Nephrol Dial Transplant 2010; 25 (7): 2168–77.
35. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001; 38 (11): 750–60.
36. Schiffmann R, Warnock DG, Banikazemi M et al. Fabry disease: Progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 2009; 24 (7): 2102–11.
37. Warnock DG, Ortiz A, Mauer M et al. Renal outcomes of agalsidase beta treatment for Fabry disease: Role of proteinuria and timing of treatment initiation. Nephrol Dial Transplant 2012; 27 (3): 1042–9.
38. Arends M, Biegstraaten M, Hughes DA et al. Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors. PLoS One 2017; 12 (8): e0182379.
39. Wanner C, Oliveira JP, Ortiz A et al. Prognostic indicators of renal disease progression in adults with fabry disease: Natural history data from the Fabry Registry. Clin J Am Soc Nephrol 2010; 5 (12): 2220–8.
40. Warnock DG, Thomas CP, Vujkovac B et al. Antiproteinuric therapy and Fabry nephropathy: Factors associated with preserved kidney function during agalsidase-beta therapy. J Med Genet 2015; 52 (12): 860–6.
41. Shah T, Gill J, Malhotra N et al. Kidney transplant outcomes in patients with Fabry disease. Transplantation 2009; 87 (2): 280–5.
42. Talbot AS, Lewis NT, Nicholls KM. Cardiovascular outcomes in Fabry disease are linked to severity of chronic kidney disease. Heart 2015; 101 (4): 287–93.
43. Sims K, Politei J, Banikazemi M et al. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: Natural history data from the Fabry registry. Stroke 2009; 40 (3): 788–94.
44. Fellgiebel A, Gartenschläger M, Wildberger K et al. Enzyme replacement therapy stabilized white matter lesion progression in Fabry disease. Cerebrovasc Dis 2014; 38 (6): 448–56.
45. Hoffmann B, Schwarz M, Mehta A et al. Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. Clin Gastroenterol Hepatol 2007; 5 (12): 1447–53.
46. Suntjens EB, Smid BE, Biegstraaten M et al. Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapy. J Inherit Metab Dis 2015; 38 (2): 351–8.
Авторы
С.В.Моисеев*1, Е.А.Каровайкина1, Н.М.Буланов1, А.С.Моисеев1,2, В.В.Фомин1
1 ФГАОУ ВО «Первый Московский государственный медицинский университет им. И.М.Сеченова» Минздрава России. 119991, Россия, Москва, ул. Трубецкая, д. 8, стр. 2;
1 ФГАОУ ВО «Первый Московский государственный медицинский университет им. И.М.Сеченова» Минздрава России. 119991, Россия, Москва, ул. Трубецкая, д. 8, стр. 2;
2 ФГБОУ ВО «Московский государственный университет им. М.В.Ломоносова». 119991, Россия, Москва, Ленинские горы, д. 1
*clinpharm@mtu-net.ru________________________________________________
S.V.Moiseev*1, E.A.Karovaikina1, N.M.Bulanov1, A.S.Moiseev1,2, V.V.Fomin1
1 I.M.Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation. 119991, Russian Federation, Moscow, ul. Trubetskaia, d. 8, str. 2;
2 M.V.Lomonosov Moscow State University. 119991, Russian Federation, Moscow, Leninskie gory, d. 11 I.M.Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation. 119991, Russian Federation, Moscow, ul. Trubetskaia, d. 8, str. 2;
*clinpharm@mtu-net.ru
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