Morbus Fabry

Fabry Preceptorship a New Horizons in Fabry Disease

Anderson-Fabryho choroba je multisystémové vzácné genetické onemocnění. Jediné centrum pro tuto nemoc v ČR je na II. interní klinice FVN. Centrum vzniklo před více než 20 lety z podnětu profesora Milana Elledera a Jana Bultase. Od roku 2006 vedl centrum dr. Lubor Goláň a od roku 2017 vede program Fabryho choroby na klinice dr. Gabriela Dostálová.

Můj zájem o chorobu vznikl před rokem 2000 a vyústil v první publikaci na toto téma v American Heart Journal (Am Heart J 2000;139:1101-8.). Díky postupnému příchodu terapie se zájem o nemoc postupně zvyšoval a centrum dnes sleduje jednu z největších kohort nemocných v Evropě. Centrum je součástí mezinárodních registrů, zejména Fabry Outcome Survey a Fabry Registry a je velmi produktivní co do vědeckých publikací na téma Fabryho choroby.

Kromě velké multidisciplinární spolupráce s řadou odborníků bylo třeba konstituovat opravdu multidisciplinární tým napříč klinikami a ústavy 1. LF a VFN. Centrum se stalo natolik známým, že opakovaně hostilo edukační kurzy a symposia. Hostujícími profesory kliniky jsou přední odborníci na toto téma, prof. Dominique P. Germain z Université de Versailles ve Francii a prof. Perry M. Elliott z University College London.

Od roku 2015 jsme až do roku 2019 zorganizovali celkem pět ročníků akce nazvané Fabry Preceptorship, postavené výhradně na edukačních přednáškách předních odborníků z fakulty a nemocnice, které jsme organizovali především s doc. Jean-Claude Lubandou. Účast byla opravdu mezinárodní a sahala od Kazachstánu až po Peru. V roce 2017 jsme s prof. Germainem vytvořili akci nazvanou NEW HORIZONS IN FABRY DISEASE. Konala se v roce 2017 pod záštitou České lékařské akademie a v roce 2019 jako akce České kardiologické společnosti. Akce se zúčastnilo přes dvacet předních řečníků a více než 150 účastníků z celého světa. Akce se stala průkopnickým nezávislým kongresem na téma Fabryho choroby a setkala se s velmi příznivým ohlasem.

  1. Linhart A, Havranek S. Conundrum of implantable electric devices in Anderson-Fabry cardiomyopathy. Heart. 2019 Dec;105(23):1775-1776. doi: 10.1136/heartjnl-2019-315586. Epub 2019 Aug 29. PubMed PMID: 31467153.
  2. Perry R, Shah R, Saiedi M, Patil S, Ganesan A, Linhart A, Selvanayagam JB. The Role of Cardiac Imaging in the Diagnosis and Management of Anderson-Fabry Disease. JACC Cardiovasc Imaging. 2019 Jul;12(7 Pt 1):1230-1242. doi: 10.1016/j.jcmg.2018.11.039. Review. Erratum in: JACC Cardiovasc Imaging. 2019 Sep;12(9):1903. PubMed PMID: 31272606.
  3. Germain DP, Elliott PM, Falissard B, Fomin VV, Hilz MJ, Jovanovic A, Kantola I, Linhart A, Mignani R, Namdar M, Nowak A, Oliveira JP, Pieroni M, Viana-Baptista M, Wanner C, Spada M. The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts. Mol Genet Metab Rep. 2019 Feb 6;19:100454. doi: 10.1016/j.ymgmr.2019.100454. eCollection 2019 Jun. Review. PubMed PMID: 30775256; PubMed Central PMCID: PMC6365982.
  4. Marek J, Palecek T, Magne J, Lavergne D, Boulogne C, Fadel BM, Jaccard A, Linhart A, Mohty D. Comparison of echocardiographic parameters in Fabry cardiomyopathy and light-chain cardiac amyloidosis. Echocardiography. 2018 Sep 24. doi: 10.1111/echo.14144. [Epub ahead of print] PubMed PMID: 30247786.
  5. Militaru S, Ginghina C, Popescu BA, Saftoiu A, Linhart A, Jurcut R. Multimodality imaging in Fabry cardiomyopathy: from early diagnosis to therapeutic targets. Eur Heart J Cardiovasc Imaging. 2018 Sep 20. doi: 10.1093/ehjci/jey132. [Epub ahead of print] PubMed PMID: 30247528.
  6. Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, Fomin VV, Germain DP, Hughes DA, Jovanovic A, Kantola I, Linhart A, Mignani R, Monserrat L, Namdar M, Nowak A, Oliveira JP, Ortiz A, Pieroni M, Spada M, Tylki-Szymańska A, Tøndel C, Viana-Baptista M, Weidemann F, Hilz MJ. European expert consensus statement on therapeutic goals in Fabry disease. Mol Genet Metab. 2018 Jul;124(3):189-203. doi: 10.1016/j.ymgme.2018.06.004. Epub 2018 Jun 12. Review. PubMed PMID: 30017653.
  7. Germain DP, Brand E, Burlina A, Cecchi F, Garman SC, Kempf J, Laney DA, Linhart A, Maródi L, Nicholls K, Ortiz A, Pieruzzi F, Shankar SP, Waldek S, Wanner C, Jovanovic A. Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study. Mol Genet Genomic Med. 2018 Apr 12. doi: 10.1002/mgg3.389. [Epub ahead of print] PubMed PMID: 29649853; PubMed Central PMCID: PMC6081232.
  8. Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR. Fabry disease revisited: Management and treatment recommendations for adult patients. Mol Genet Metab. 2018 Apr;123(4):416-427. doi: 10.1016/j.ymgme.2018.02.014. Epub 2018 Feb 28. Review. PubMed PMID: 29530533.
  9. Jirásková A, Bortolussi G, Dostálová G, Eremiášová L, Golaň L, Danzig V, Linhart A, Vítek L. Serum Bilirubin Levels and Promoter Variations in HMOX1 and UGT1A1 Genes in Patients with Fabry Disease. Oxid Med Cell Longev. 2017;2017:9478946. doi: 10.1155/2017/9478946. Epub 2017 Aug 16. PubMed PMID: 28951772; PubMed Central PMCID: PMC5603749.
  10. Rob D, Marek J, Dostálová G, Goláň L, Linhart A. Correction: Uric Acid as a Marker of Mortality and Morbidity in Fabry Disease. PLoS One. 2017 Jan 20;12(1):e0170881. doi: 10.1371/journal.pone.0170881. eCollection 2017. PubMed PMID: 28107535; PubMed Central PMCID: PMC5249134.
  11. Rob D, Marek J, Dostálová G, Goláň L, Linhart A. Uric Acid as a Marker of Mortality and Morbidity in Fabry Disease. PLoS One. 2016 Nov 11;11(11):e0166290. doi: 10.1371/journal.pone.0166290. eCollection 2016. Erratum in: PLoS One. 2017 Jan 20;12 (1):e0170881. PubMed PMID: 27835692; PubMed Central PMCID: PMC5105940.
  12. Ortiz A, Abiose A, Bichet DG, Cabrera G, Charrow J, Germain DP, Hopkin RJ, Jovanovic A, Linhart A, Maruti SS, Mauer M, Oliveira JP, Patel MR, Politei J, Waldek S, Wanner C, Yoo HW, Warnock DG. Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry. J Med Genet. 2016 Jul;53(7):495-502. doi: 10.1136/jmedgenet-2015-103486. Epub 2016 Mar 18. PubMed PMID: 26993266; PubMed Central PMCID: PMC4941144.
  13. Goláň L, Goker-Alpan O, Holida M, Kantola I, Klopotowski M, Kuusisto J, Linhart A, Musial J, Nicholls K, Gonzalez-Rodriguez D, Sharma R, Vujkovac B, Chang P, Wijatyk A. Evaluation of the efficacy and safety of three dosing regimens of agalsidase alfa enzyme replacement therapy in adults with Fabry disease. Drug Des Devel Ther. 2015 Jul 8;9:3435-44. doi: 10.2147/DDDT.S80928. eCollection 2015. PubMed PMID: 26185417; PubMed Central PMCID: PMC4501226.
  14. Palecek T, Honzikova J, Poupetova H, Vlaskova H, Kuchynka P, Golan L, Magage S, Linhart A. Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS). J Inherit Metab Dis. 2014 May;37(3):455-60. doi: 10.1007/s10545-013-9659-2. Epub 2013 Oct 31. PubMed PMID: 24173410.
  15. Germain DP, Weidemann F, Abiose A, Patel MR, Cizmarik M, Cole JA, Beitner-Johnson D, Benistan K, Cabrera G, Charrow J, Kantola I, Linhart A, Nicholls K, Niemann M, Scott CR, Sims K, Waldek S, Warnock DG, Strotmann J; Fabry Registry. Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry Registry. Genet Med. 2013 Dec;15(12):958-65. doi: 10.1038/gim.2013.53. Epub 2013 May 23. PubMed PMID: 23703683.
  16. Havranek S, Linhart A, Urbanova Z, Ramaswami U. Early cardiac changes in children with anderson-fabry disease. JIMD Rep. 2013;11:53-64. doi: 10.1007/8904_2013_222. Epub 2013 Apr 2. PubMed PMID: 23546814; PubMed Central PMCID: PMC3755562.
  17. Palecek T, Honzikova J, Poupetova H, Vlaskova H, Kuchynka P, Golan L, Magage S, Linhart A. Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS). J Inherit Metab Dis. 2014 May;37(3):455-60.
  18. Germain DP, Weidemann F, Abiose A, Patel MR, Cizmarik M, Cole JA, Beitner-Johnson D, Benistan K, Cabrera G, Charrow J, Kantola I, Linhart A, Nicholls K, Niemann M, Scott CR, Sims K, Waldek S, Warnock DG, Strotmann J; Fabry Registry. Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry Registry. Genet Med. 2013 Dec;15(12):958-65
  19. Yousef Z, Elliott PM, Cecchi F, Escoubet B, Linhart A, Monserrat L, Namdar M, Weidemann F. Left ventricular hypertrophy in Fabry disease: a practical approach to diagnosis. Eur Heart J. 2013 Mar;34(11):802-8.
  20. Havranek S, Linhart A, Urbanova Z, Ramaswami U. Early cardiac changes in children with anderson-fabry disease. JIMD Rep. 2013;11:53-64
  21. Patel MR, Cecchi F, Cizmarik M, Kantola I, Linhart A, Nicholls K, Strotmann J, Tallaj J, Tran TC, West ML, Beitner-Johnson D, Abiose A. Cardiovascular events in patients with fabry disease natural history data from the fabry registry. J Am Coll Cardiol. 2011 Mar 1;57(9):1093-9.
  22. Palecek T, Bultas J, Hajek M, Karetova D, Kuchynka P, Kautzner J, Elleder M,Linhart A. Association between cardiac energy metabolism and gain of left ventricular mass in Fabry disease. Int J Cardiol. 2010 Oct 8;144(2):337-9.
  23. Weidemann F, Linhart A, Monserrat L, Strotmann J. Cardiac challenges in patients with Fabry disease. Int J Cardiol. 2010 May 14;141(1):3-10.
  24. Karetova D, Bultas J, Dostalova G, Palecek T, Kovarnik T, Golan L, Linhart A. Fabry disease – Vascular manifestations. Vasa. 2010 May;39(2):123-31.
  25. Giannini EH, Mehta AB, Hilz MJ, Beck M, Bichet DG, Brady RO, West M, Germain DP, Wanner C, Waldek S, Clarke JT, Mengel E, Strotmann JM, Warnock DG, Linhart A. A validated disease severity scoring system for Fabry disease. Mol Genet Metab. 2010 Mar;99(3):283-90.
  26. Barbey F, Qanadli SD, Juli C, Brakch N, Palacek T, Rizzo E, Jeanrenaud X, Eckhardt B, Linhart A. Aortic remodelling in Fabry disease. Eur Heart J. 2010 Feb;31(3):347-53.
  27. Vojtová L, Zima T, Tesař V, Michalová J, Přikryl P, Dostálová G, Linhart A.Study of urinary proteomes in Anderson-Fabry disease. Ren Fail. 2010;32(10):1202-9.
  28. Varejka P, Lubanda JC, Prochazka P, Heller S, Beran S, Dostal O, Charvat F, Horejs J, Semrad M, Linhart A. [Late complication of surgical repair of aortic coarctation: Ruptured pseudoaneurysm of the aorta treated by thoracic endovascular aortic repair.]. J Mal Vasc. 2010 Mar 19.
  29. Mehta A, Beck M, Elliott P, Giugliani R, Linhart A, Sunder-Plassmann G, Schiffmann R, Barbey F, Ries M, Clarke JT; Fabry Outcome Survey investigators. Enzyme replacement therapy with agalsidase alfa in patients with Fabry’s disease: an analysis of registry data. Lancet. 2009 Dec 12;374(9706):1986-96. Epub .Erratum in: Lancet. 2010 Jan 16;375(9710):200.
  30. Kampmann C, Linhart A, Devereux RB, Schiffmann R. Effect of agalsidase alfa replacement therapy on Fabry disease-related hypertrophic cardiomyopathy: a 12- to 36-month, retrospective, blinded echocardiographic pooled analysis. Clin Ther. 2009 Sep;31(9):1966-76.
  31. Weidemann F, Linhart A, Monserrat L, Strotmann J. Cardiac challenges in patients with Fabry disease. Int J Cardiol. 2009 Aug 29. [Epub ahead of print]
  32. Mehta A, Clarke JT, Giugliani R, Elliott P, Linhart A, Beck M, Sunder-Plassmann G; FOS Investigators. Natural course of Fabry disease: changing pattern of causes of death in FOS – Fabry Outcome Survey. J Med Genet. 2009 Aug;46(8):548-52. Epub 2009 May 26.
  33. Palecek T, Bultas J, Hajek M, Karetova D, Kuchynka P, Kautzner J, Elleder M, Linhart A. Association between cardiac energy metabolism and gain of left ventricular mass in Fabry disease. Int J Cardiol. 2009 Apr 1. [Epub ahead of print]
  34. Kovarnik T, Mintz GS, Karetova D, Horak J, Bultas J, Skulec R, Skalicka H, Aschermann M, Elleder M, Linhart A. Intravascular ultrasound assessment of coronary artery involvement in Fabry disease. J Inherit Metab Dis. 2008 Dec;31(6):753-60. Epub 2008 Nov 8.
  35. Kampmann C, Linhart A, Baehner F, Palecek T, Wiethoff CM, Miebach E, Whybra C, Gal A, Bultas J, Beck M. Onset and progression of the Anderson-Fabry disease related cardiomyopathy. Int J Cardiol. 2008 Nov 28;130(3):367-73. Epub 2008 Jun 24.
  36. Palecek T, Dostalova G, Kuchynka P, Karetova D, Bultas J, Elleder M, Linhart A. Right ventricular involvement in Fabry disease. J Am Soc Echocardiogr. 2008 Nov;21(11):1265-8. Epub 2008 Oct 4.
  37. Linhart A. Treatment of Anderson-Fabry disease. Heart. 2008 Feb;94(2):138-9.
  38. Magage S, Lubanda JC, Susa Z, Bultas J, Karetová D, Dobrovolný R, Hrebícek M, Germain DP, Linhart A. Natural history of the respiratory involvement in Anderson-Fabry disease. J Inherit Metab Dis. 2007 Oct;30(5):790-9. Epub 2007 Jul 9.
  39. Linhart A, Kampmann C, Zamorano JL, Sunder-Plassmann G, Beck M, Mehta A, Elliott PM; European FOS Investigators. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J. 2007 May;28(10):1228-35. Epub 2007 May 5.
  40. Linhart A, Elliott PM. The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart. 2007 Apr;93(4):528-35. Review.
  41. Lidove O, Ramaswami U, Jaussaud R, Barbey F, Maisonobe T, Caillaud C, Beck M, Sunder-Plassmann G, Linhart A, Mehta A; FOS European investigators. Hyperhidrosis: a new and often early symptom in Fabry disease. International experience and data from the Fabry Outcome Survey. Int J Clin Pract. 2006 Sep;60(9):1053-9.
  42. Kleinert J, Dehout F, Schwarting A, de Lorenzo AG, Ricci R, Kampmann C, Beck M, Ramaswami U, Linhart A, Gal A, Houge G, Widmer U, Mehta A, Sunder-Plassmann G. Prevalence of uncontrolled hypertension in patients with Fabry disease. Am J Hypertens. 2006 Aug;19(8):782-7.
  43. Barbey F, Brakch N, Linhart A, Jeanrenaud X, Palecek T, Bultas J, Burnier M, Hayoz D. Increased carotid intima-media thickness in the absence of atherosclerotic plaques in an adult population with Fabry disease. Acta Paediatr Suppl. 2006 Apr;95(451):63-8.
  44. Barbey F, Brakch N, Linhart A, Rosenblatt-Velin N, Jeanrenaud X, Qanadli S, Steinmann B, Burnier M, Palecek T, Bultas J, Hayoz D. Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition. Arterioscler Thromb Vasc Biol. 2006 Apr;26(4):839-44. Epub 2006 Feb 9.
  45. Palecek T, Linhart A, Lubanda JC, Magage S, Karetova D, Bultas J, Aschermann M. Early diastolic mitral annular velocity and color M-mode flow propagation velocity in the evaluation of left ventricular diastolic function in patients with Fabry disease. Heart Vessels. 2006 Jan;21(1):13-9.
  46. Magage S, Lubanda JC, Germain DP, Bultas J, Karetová D, Linhart A. [Respiratory involvement in patients with Fabry disease.]. Med Sci (Paris). 2005 Dec;21(11 Suppl):37-9. French.
  47. Kleinert J, Dehout F, Schwarting A, de Lorenzo AG, Ricci R, Kampmann C, Beck M, Ramaswami U, Linhart A, Gal A, Houge G, Widmer U, Mehta A, Sunder-Plassmann G. Anemia is a new complication in Fabry disease: data from the Fabry Outcome Survey. Kidney Int. 2005 May;67(5):1955-60.
  48. Magage S, Linhart A, Bultas J, Vojacek J, Mates M, Palecek T, Popelová J, Tintera J, Aschermann M, Goldman ME, Desnick RJ. Fabry disease: percutaneous transluminal septal myocardial ablation markedly improved symptomatic left ventricular hypertrophy and outflow tract obstruction in a classically affected male. Echocardiography. 2005 Apr;22(4):333-9.
  49. Beck M, Ricci R, Widmer U, Dehout F, de Lorenzo AG, Kampmann C, Linhart A, Sunder-Plassmann G, Houge G, Ramaswami U, Gal A, Mehta A. Fabry disease: overall effects of agalsidase alfa treatment. Eur J Clin Invest. 2004 Dec;34(12):838-44.
  50. Palecek T, Lubanda JC, Magage S, Karetová D, Bultas J, Linhart A. [Cardiac manifestation of Fabry’s disease: current knowledge]. Vnitr Lek. 2004Nov;50(11):846-51. Review. Czech.
  51. Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C, Linhart A, Sunder-Plassmann G, Ries M, Beck M. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004 Mar;34(3):236-42.
  52. Linhart A, Magage S, Palecek T, Bultas J. Cardiac involvement in Fabry disease. Acta Paediatr Suppl. 2002;91(439):15-20. Review.
  53. Linhart A, Lubanda JC, Palecek T, Bultas J, Karetová D, Ledvinová J, Elleder M, Aschermann M. Cardiac manifestations in Fabry disease. J Inherit Metab Dis. 2001;24 Suppl 2:75-83; discussion 65. Review.
  54. Linhart A, Palecek T, Bultas J, Ferguson JJ, Hrudová J, Karetová D, Zeman J, Ledvinová J, Poupetová H, Elleder M, Aschermann M. New insights in cardiac structural changes in patients with Fabry’s disease. Am Heart J. 2000 Jun;139(6):1101-8.