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Vol 82, Supp. I (2024): Zeszyty Edukacyjne 1/2024
Opinie i stanowiska ekspertów
Published online: 2024-09-18

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Diagnostyka i leczenie choroby Fabry’ego. Opinia ekspertów Polskiego Towarzystwa Kardiologicznego i Polskiego Forum ds. Choroby Fabry’ego

Piotr Podolec12, Przemysław Mitkowski3, Agnieszka Słowik, Agnieszka Gala-Błądzińska, Urszula Gancarczyk, Robert Gil, Tomasz Grodzicki, Krzysztof Kaczmarek, Beata Kieć-Wilk, Mariusz Kłopotowski, Magdalena Kostkiewicz, Magdalena Krajewska, Mariusz Kusztal, Beata Lipska-Ziętkiewicz, Katarzyna Mizia-Stec, Michał Nowicki, Katarzyna Muras-Szwedziak, Krzysztof Pawlaczyk, Łukasz Przysło, Konrad Rejdak, Dariusz Rokicki, Jacek Szepietowski, Sylwia Szczepara, Robert Śmigiel, Zbigniew Żuber, Katarzyna Życińska, Stanisław Maćkowiak, Małgorzata Barnaś, Monika Komar12

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References

  1. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010; 5: 30.
    CrossRefPubMed
  2. Nowicki M, Bazan-Socha S, Błażejewska-Hyzorek B, et al. Enzyme replacement therapy in Fabry disease in Poland: A position statement. Pol Arch Intern Med. 2020; 130(1): 91–97.
    CrossRefPubMed
  3. Cairns T, Müntze J, Gernert J, et al. Hot topics in Fabry disease. Postgrad Med J. 2018; 94(1118): 709–713.
    CrossRefPubMed
  4. Toyooka K. Fabry disease. Curr Opin Neurol. 2011; 24(5): 463–468.
    CrossRefPubMed
  5. Coelho-Ribeiro B, Silva HG, Sampaio-Marques B, et al. Inflammation and exosomes in Fabry disease pathogenesis. Cells. 2024; 13(8): 654.
    CrossRefPubMed
  6. Rozenfeld P, Feriozzi S. Contribution of inflammatory pathways to Fabry disease pathogenesis. Mol Genet Metab. 2017; 122(3): 19–27.
    CrossRefPubMed
  7. Marques ARA, Saftig P. Lysosomal storage disorders — challenges, concepts and avenues for therapy: Beyond rare diseases. J Cell Sci. 2019; 132(2): jcs221739.
    CrossRefPubMed
  8. Bartolotta C, Filogamo M, Colomba P, et al. Fp907history of Anderson-Fabry disease. Nephrol Dial Transplant. 2015; 30(Suppl 3): iii379.
    CrossRef
  9. Duro G, Zizzo C, Cammarata G, et al. Mutations in the GLA gene and lysogb3: is it really Anderson-Fabry disease? IJMS. 2018; 19(12): 3726.
    CrossRef
  10. Michaud M, Mauhin W, Belmatoug N, et al. When and how to diagnose Fabry disease in clinical pratice. Am J Med Sci. 2020; 360(6): 641–649.
    CrossRefPubMed
  11. Germain DP, Fouilhoux A, Decramer S, et al. Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients. Clin Genet. 2019; 96(2): 107–117.
    CrossRefPubMed
  12. Ries M, Moore DF, Robinson CJ, et al. Quantitative dysmorphology assessment in Fabry disease. Genet Med. 2006; 8(2): 96–101.
    CrossRefPubMed
  13. Ramaswami U, Whybra C, Parini R, et al. Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey. Acta Paediatr. 2006; 95(1): 86–92.
    CrossRefPubMed
  14. 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): 550–555.
    CrossRefPubMed
  15. Zarate YA, Hopkin RJ. Fabry's disease. Lancet. 2008; 372(9647): 1427–1435.
    CrossRefPubMed
  16. Marchesoni C, Cisneros E, Pfister P, et al. Brain MRI findings in children and adolescents with Fabry disease. J Neurol Sci. 2018; 395: 131–134.
    CrossRefPubMed
  17. Cabrera-Salazar MA, O'Rourke E, Charria-Ortiz G, et al. Radiological evidence of early cerebral microvascular disease in young children with Fabry disease. J Pediatr. 2005; 147(1): 102–105.
    CrossRefPubMed
  18. Caputo F, Lungaro L, Galdi A, et al. Gastrointestinal involvement in Anderson-Fabry disease: A narrative review. Int J Environ Res Public Health. 2021; 18(6): 3320.
    CrossRefPubMed
  19. Hilz MJ, Arbustini E, Dagna L, et al. Non-specific gastrointestinal features: Could it be Fabry disease? Dig Liver Dis. 2018; 50(5): 429–437.
    CrossRefPubMed
  20. Kalkum G, Pitz S, Karabul N, et al. Paediatric Fabry disease: Prognostic significance of ocular changes for disease severity. BMC Ophthalmol. 2016; 16(1): 202.
    CrossRefPubMed
  21. Davey PG. Fabry disease: A survey of visual and ocular symptoms. Clin Ophthalmol. 2014; 8: 1555–1560.
    CrossRefPubMed
  22. Luna PC, Boggio P, Larralde M. Dermatologic aspects of Fabry disease. Journal of Inborn Errors of Metabolism and Screening. 2016; 4: 232640981666135.
    CrossRef
  23. Chan B, Adam DN. A review of Fabry disease. Skin Therapy Lett. 2018; 23(2): 4–6.
    PubMed
  24. Silva CA, Moura-Neto JA, Dos Reis MA, et al. Renal manifestations of Fabry disease: A narrative review. Can J Kidney Health Dis. 2021; 8: 2054358120985627.
    CrossRefPubMed
  25. Germain DP, Abrad M, et al. The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease – A systematic literature review by a European panel of experts. Mol Genet Metab. 2019; 126(3): 224–235.
    CrossRefPubMed
  26. Echevarria L, Benistan K, Toussaint A, et al. X-chromosome inactivation in female patients with Fabry disease. Clin Genet. 2016; 89(1): 44–54.
    CrossRefPubMed
  27. Wilcox WR, Oliveira JP, Hopkin RJ, et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008; 93(2): 112–128.
    CrossRefPubMed
  28. Germain DP, Altarescu G, Barriales-Villa R, et al. An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease. Mol Genet Metab. 2022; 137(1-2): 49–61.
    CrossRefPubMed
  29. Germain DP, Levade T, Hachulla E, et al. Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease. Clin Genet. 2022; 101(4): 390–402.
    CrossRefPubMed
  30. 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.
    CrossRefPubMed
  31. Whybra C, Miebach E, Mengel E, et al. A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease. Genet Med. 2009; 11(6): 441–449.
    CrossRefPubMed
  32. Viggiano E, Politano L. X chromosome inactivation in carriers of fabry disease: Review and meta-analysis. Int J Mol Sci. 2021; 22(14): 7663.
    CrossRefPubMed
  33. Gibas AL, Klatt R, Johnson J, et al. Disease rarity, carrier status, and gender: A triple disadvantage for women with Fabry disease. J Genet Couns. 2008; 17(6): 528–537.
    CrossRefPubMed
  34. Gragnaniello V, Burlina AP, Commone A, et al. Newborn screening for Fabry disease: Current status of knowledge. Int J Neonatal Screen. 2023; 9(2): 31.
    CrossRefPubMed
  35. Laney DA, Clarke V, Foley A, et al. The impact of Fabry disease on reproductive fitness. JIMD Rep. 2017; 37: 85–97.
    CrossRefPubMed
  36. Ries M, Gal A. Genotype–phenotype correlation in Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G. ed. Fabry Disease: Perspectives from 5 Years of FOS. Oxford PharmaGenesis, Oxford, UK 2006.
  37. Koca S, Tümer L, Okur İ, et al. High incidence of co-existing factors significantly modifying the phenotype in patients with Fabry disease. Gene. 2019; 687: 280–288.
    CrossRefPubMed
  38. Germain DP, Benistan K, Angelova L. X-linked inheritance and its implication in the diagnosis and management of female patients in Fabry disease. Rev Med Interne. 2010; 31 Suppl 2: S209–S213.
    CrossRefPubMed
  39. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet. 2001; 38(11): 769–775.
    CrossRefPubMed
  40. Wang RY, Lelis A, Mirocha J, et al. Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med. 2007; 9(1): 34–45.
    CrossRefPubMed
  41. Niemann M, Herrmann S, Hu K, et al. Differences in Fabry cardiomyopathy between female and male patients: Consequences for diagnostic assessment. JACC Cardiovasc Imaging. 2011; 4(6): 592–601.
    CrossRefPubMed
  42. Fukushima M, Tsuchiyama Y, Nakato T, et al. A female heterozygous patient with Fabry's disease with renal accumulation of trihexosylceramide detected with a monoclonal antibody. Am J Kidney Dis. 1995; 26(6): 952–955.
    CrossRefPubMed
  43. Lidove O, Barbey F, Niu DM, et al. Fabry in the older patient: Clinical consequences and possibilities for treatment. Mol Genet Metab. 2016; 118(4): 319–325.
    CrossRefPubMed
  44. 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): 750–760.
    CrossRefPubMed
  45. Linhart A, Lubanda J, Palecek T, et al. Cardiac manifestations in Fabry disease. J Inherit Metab Dis. 2001; 24(S2): 75–83.
    CrossRefPubMed
  46. Palecek T, Linhart A, Lubanda JC, et al. Cardiac involvement in Fabry disease. Acta Paediatr Suppl. 2002; 91(439): 15–20.
    CrossRefPubMed
  47. Wilcox WR, Banikazemi M, Guffon N, et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet. 2004; 75(1): 65–74.
    CrossRefPubMed
  48. Beck M, Ricci R, Widmer U, et al. Fabry disease: Overall effects of agalsidase alfa treatment. Eur J Clin Invest. 2004; 34(12): 838–844.
    CrossRefPubMed
  49. Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: Management and treatment recommendations for adult patients. Mol Genet Metab. 2018; 123(4): 416–427.
    CrossRefPubMed
  50. Ortiz A, Abiose A, Bichet DG, et al. Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: Data from the Fabry Registry. J Med Genet. 2016; 53(7): 495–502.
    CrossRefPubMed
  51. Linhart A, Germain DP, Olivotto I, et al. An expert consensus document on the management of cardiovascular manifestations of Fabry disease. Eur J Heart Fail. 2020; 22(7): 1076–1096.
    CrossRefPubMed
  52. Jastrzębski M, Petkow-Dimitrow P. Elektrokardiogram w chorobie Fabry’ego. Kardiol Pol. 2008; 66: 688–692.
  53. Sheth KJ, Thomas JP. Electrocardiograms in Fabry's disease. J Electrocardiol. 1982; 15(2): 153–156.
    CrossRefPubMed
  54. Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004; 34(3): 236–242.
    CrossRefPubMed
  55. Azevedo O, Cordeiro F, Gago MF, et al. Fabry disease and the heart: A comprehensive review. Int J Mol Sci. 2021; 22(9): 4434.
    CrossRefPubMed
  56. Spinelli L, Giugliano G, Imbriaco M, et al. Left ventricular radial strain impairment precedes hypertrophy in Anderson-Fabry disease. Int J Cardiovasc Imaging. 2020; 36(8): 1465–1476.
    CrossRefPubMed
  57. Shanks M, Thompson RB, Paterson ID, et al. Systolic and diastolic function assessment in fabry disease patients using speckle-tracking imaging and comparison with conventional echocardiographic measurements. J Am Soc Echocardiogr. 2013; 26(12): 1407–1414.
    CrossRefPubMed
  58. Perry R, Shah R, Saiedi M, et al. The role of cardiac imaging in the diagnosis and management of Anderson-Fabry disease. JACC Cardiovasc Imaging. 2019; 12(7 Pt 1): 1230–1242.
    CrossRefPubMed
  59. Nordin S, Kozor R, Vijapurapu R, et al. Myocardial storage, inflammation, and cardiac phenotype in Fabry disease after one year of enzyme replacement therapy. Circ Cardiovasc Imaging. 2019; 12(12): e009430.
    CrossRefPubMed
  60. Lanzillo C, Fedele E, Martino A, et al. Cardiac magnetic resonance in Fabry disease. Eur Heart J Suppl. 2023; 25(Suppl C): C200–C204.
    CrossRefPubMed
  61. Tower-Rader A, Jaber WA. Multimodality imaging assessment of Fabry disease. Circ Cardiovasc Imaging. 2019; 12(11): e009013.
    CrossRefPubMed
  62. Nappi C, Ponsiglione A, Pisani A, et al. Role of serial cardiac F-FDG PET-MRI in Anderson-Fabry disease: A pilot study. Insights Imaging. 2021; 12(1): 124.
    CrossRefPubMed
  63. Linhart A, Germain DP, Olivotto I, et al. An expert consensus document on the management of cardiovascular manifestations of Fabry disease. Eur J Heart Fail. 2020; 22(7): 1076–1096.
    CrossRefPubMed
  64. Ponsiglione A, De Giorgi M, Ascione R, et al. Advanced CMR techniques in anderson-Fabry disease: State of the Art. Diagnostics (Basel). 2023; 13(15): 2598.
    CrossRefPubMed
  65. Doheny D, Srinivasan R, Pagant S, et al. Fabry Disease: Prevalence of affected males and heterozygotes with pathogenic mutations identified by screening renal, cardiac and stroke clinics, 1995-2017. J Med Genet. 2018; 55(4): 261–268.
    CrossRefPubMed
  66. Najafian B, Tøndel C, Svarstad E, et al. Accumulation of globotriaosylceramide in podocytes in Fabry nephropathy is associated with progressive podocyte loss. J Am Soc Nephrol. 2020; 31(4): 865–875.
    CrossRefPubMed
  67. Rozenfeld PA, de Los Angeles Bolla M, Quieto P, et al. Pathogenesis of Fabry nephropathy: The pathways leading to fibrosis. Mol Genet Metab. 2020; 129(2): 132–141.
    CrossRefPubMed
  68. del Pino M, Andrés A, Bernabéu A, et al. Fabry nephropathy: An evidence-based narrative review. Kidney Blood Press Res. 2018; 43(2): 406–421.
    CrossRefPubMed
  69. Riccio E, Sabbatini M, Bruzzese D, et al. Glomerular hyperfiltration: An early marker of nephropathy in Fabry disease. Nephron. 2019; 141(1): 10–17.
    CrossRefPubMed
  70. Schiffmann R, Hughes DA, Linthorst GE, et al. Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. Kidney Int. 2017; 91(2): 284–293.
    CrossRefPubMed
  71. Capuano I, Buonanno P, Riccio E, et al. Parapelvic cysts: An imaging marker of kidney disease potentially leading to the diagnosis of treatable rare genetic disorders? A narrative review of the literature. J Nephrol. 2022; 35(8): 2035–2046.
    CrossRefPubMed
  72. Nowak A, Beuschlein F, Sivasubramaniam V, et al. Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease. J Med Genet. 2022; 59(3): 287–293.
    CrossRefPubMed
  73. Simonetta I, Tuttolomondo A, Daidone M, et al. Biomarkers in Anderson-Fabry disease. Int J Mol Sci. 2020; 21(21): 8080.
    CrossRefPubMed
  74. Rodríguez ALM, Abraham MVS, Vázquez MYV, et al. Histopathological findings in renal biopsies in Anderson–Fabry disease. Case series. Rev Med Hosp Gen Mex. 2018; 81(4): 243–247.
    CrossRef
  75. Johar L, Lee G, Martin-Rios A, et al. Polycystic kidney disease complicates renal pathology in a family with Fabry disease. Mol Genet Metab Rep. 2022; 33: 100934.
    CrossRefPubMed
  76. Król N, Trąd S, Milian-Ciesielska K, et al. Fabry disease related nephropathy – case family report and literature review. Eur J Clin Exp Med. 2022; 20(4): 482–487.
    CrossRef
  77. Levin A, Stevens PE, Bilous RW, et al. Kidney disease: Improving global outcomes (KDIGO) CKD work group. KDIGO 2012 clinical practice guideline for the evaluation and management of chronic kidney disease. Kidney International Supplements. 2013; 3(1): 1–150.
    CrossRef
  78. Stompór T, Adamczak M, Kurnatowska I, et al. Pharmacological nephroprotection in non-diabetic chronic kidney disease-clinical practice position statement of the Polish Society of Nephrology. J Clin Med. 2023; 12(16): 5184.
    CrossRefPubMed
  79. Ersözlü S, Desnick RJ, Huynh-Do U, et al. Long-term outcomes of kidney transplantation in Fabry disease. Transplantation. 2018; 102(11): 1924–1933.
    CrossRefPubMed
  80. Cocozza S, Russo C, Pontillo G, et al. Neuroimaging in Fabry disease: Current knowledge and future directions. Insights Imaging. 2018; 9(6): 1077–1088.
    CrossRefPubMed
  81. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010; 5: 1–49.
  82. Lenders M, Brand E. Fabry disease: The current treatment landscape. Drugs. 2021; 81(6): 635–645.
    CrossRefPubMed
  83. 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): 750–760.
    CrossRefPubMed
  84. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet. 2001; 38(11): 769–775.
    CrossRefPubMed
  85. Mehat A, Hughes DA. Fabry disease 2002. In: Adam MP, Mirzaa GM, Pagon RA. ed. GeneReviews. University of Washington, Seattle (WA) : 1993–2023.
  86. Mishra V, Banerjee A, Gandhi AB, et al. Stroke and Fabry disease: A review of literature. Cureus. 2020; 12(12): e12083.
    CrossRefPubMed
  87. Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: Management and treatment recommendations for adult patients. Mol Genet Metab. 2018; 123(4): 416–427.
    CrossRefPubMed
  88. Moiseev S, Karovaikina E, Novikov P. What rheumatologist should know about FD? Ann Rheum Dis. 2020; 79: 6.
  89. Lidove O, Zeller V, Chicheportiche V, et al. Musculoskeletal manifestations of Fabry disease: A retrospective study. Joint Bone Spine. 2016; 83(4): 421–426.
    CrossRefPubMed
  90. Paim-Marques L, Cavalcante A, Verçosa I, et al. Frequency of Fabry disease in a juvenile idiopathic arthritis cohort. Pediatr Rheumatol Online J. 2021; 19(1): 91.
    CrossRefPubMed
  91. 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): 550–555.
    CrossRefPubMed
  92. Politei J, Remondino G, Heguilen R, et al. When arthralgia is not arthritis. Eur J Rheumatol. 2016; 3(4): 182–184.
    CrossRefPubMed
  93. Slouma M, Ben Dhia S, Cheour E, et al. Acroparesthesias: An overview. Curr Rheumatol Rev. 2024; 20(2): 115–126.
    CrossRefPubMed
  94. Johnson SA, Shouman K, Shelly S, et al. Small fiber neuropathy incidence, prevalence, longitudinal impairments, and disability. Neurology. 2021; 97(22): e2236–e2247.
    CrossRefPubMed
  95. Conigliaro P, De Martino E, Giuseppe I, et al. Severe lupus nephritis: An unexpected association with Fabry disease. Lupus. 2020; 29(8): 1004–1005.
    CrossRef
  96. Yanfang W, Juanjuan He, Shengli Z, et al. FD misdiagnosing as polymyalgia rheumatic. Medicine (Baltimore). 2023; 102(44): e34630.
    CrossRefPubMed
  97. Sen R, Borghoff K, Foster KW, et al. Hydroxychloroquine and Fabry disease: Three case reports examining an unexpected pathologic link and a review of the literature. Case Rep Rheumatol. 2022; 2022: 2930103.
    CrossRefPubMed
  98. Luo Yi, Wu Di, Shen M. Recurrent fever of unknown origin: An overlooked symptom of Fabry disease. Mol Genet Genomic Med. 2020; 8(10): e1454.
    CrossRefPubMed
  99. Cimaz R, Guillaume S, Hilz MJ, et al. Awareness of Fabry disease among rheumatologists--current status and perspectives. Clin Rheumatol. 2011; 30(4): 467–475.
    CrossRefPubMed
  100. Thévenot C. Joint involvement in patients with Fabry’s disease. A review of two cases. Sem Hop Paris. 1992.
  101. Lidove O, Barbey F, Niu DM, et al. Fabry in the older patient: Clinical consequences and possibilities for treatment. Mol Genet Metab. 2016; 118(4): 319–325.
    CrossRefPubMed
  102. Chevrant-Breton J, Laudren A, Mazéas D, et al. Fabry's disease, lymphedema and ulcero-mutilating acropathy - a case [article in French]. Ann Dermatol Venereol. 1981; 108(11): 899–902.
    PubMed
  103. Sacre K, Lidove O, Giroux Leprieur B, et al. Bone and joint involvement in Fabry disease. Scand J Rheumatol. 2010; 39(2): 171–174.
    CrossRefPubMed
  104. Germain DP, Benistan K, Boutouyrie P, et al. Osteopenia and osteoporosis: previously unrecognized manifestations of Fabry disease. Clin Genet. 2005; 68(1): 93–95.
    CrossRefPubMed
  105. Mersebach H, Johansson JO, Rasmussen AK, et al. Osteopenia: a common aspect of Fabry disease. Predictors of bone mineral density. Genet Med. 2007; 9(12): 812–818.
    CrossRefPubMed
  106. Horiuchi H, Saito N, Kobayashi S, et al. Avascular necrosis of the femoral head in a patient with Fabry's disease: identification of ceramide trihexoside in the bone by delayed-extraction matrix-assisted laser desorption ionization-time-of-flight mass spectrometry. Arthritis Rheum. 2002; 46(7): 1922–1925.
    CrossRefPubMed
  107. Germain DP, Benistan K, Boutouyrie P, et al. Osteopenia and osteoporosis: previously unrecognized manifestations of Fabry disease. Clin Genet. 2005; 68(1): 93–95.
    CrossRefPubMed
  108. Mersebach H, Johansson JO, Rasmussen AK, et al. Osteopenia: A common aspect of Fabry disease. Predictors of bone mineral density. Genet Med. 2007; 9(12): 812–818.
    CrossRefPubMed
  109. Talbot A, Ghali JR, Nicholls K. Antiepileptic medications increase osteoporosis risk in male fabry patients: bone mineral density in an Australian cohort. JIMD Rep. 2014; 17: 29–36.
    CrossRefPubMed
  110. Beerhorst K, Tan IY, De Krom M, et al. Antiepileptic drugs and high prevalence of low bone mineral density in a group of inpatients with chronic epilepsy. Acta Neurol Scand. 2013; 128(4): 273–280.
    CrossRefPubMed
  111. Chimenti C, Padua L, Pazzaglia C, et al. Cardiac and skeletal myopathy in Fabry disease: a clinicopathologic correlative study. Hum Pathol. 2012; 43(9): 1444–1452.
    CrossRefPubMed
  112. Kramer J, Glaser F, Hasselblatt M. A Spinal ischemic lesion in a 24-year-old patients with FD. Front Immunol. 2020; 11: 595514.
    CrossRefPubMed
  113. Lenders M, Brand E. FAbry STabilization indEX (FASTEX): Clinical evaluation of disease progression in Fabry patients. Mol Genet Metab. 2020; 129(2): 142–149.
    CrossRefPubMed
  114. Paim- Margues L, de Oliveira RJ, Appenceller S. Multidisciplinary management of FD: Current perspectives. J Mulidisc Healthc. 2022; 15: 485–495.
    CrossRefPubMed
  115. Burina A, Brand E, Hughes D. An expert Consensus on the recommendations for the use of biomarkers in FD. Mol Genet Metab. 2023; 139.
  116. Lenders M, Brand E. Fabry disease: The current treatment landscape. Drugs. 2021; 81(6): 635–645.
    CrossRefPubMed
  117. Chan B, Adam DN. A review of Fabry disease. Skin Therapy Lett. 2018; 23(2): 4–6.
    PubMed
  118. Orteu CH, Jansen T, Lidove O, et al. Fabry disease and the skin: data from FOS, the Fabry outcome survey. Br J Dermatol. 2007; 157(2): 331–337.
    CrossRefPubMed
  119. Zampetti A, Orteu CH, Antuzzi D, et al. Angiokeratoma: decision-making aid for the diagnosis of Fabry disease. Br J Dermatol. 2012; 166(4): 712–720.
    CrossRefPubMed
  120. Mehta A, Hughes AD, Adam EP. GeneReviews® [Internet]. Seattle (WA). University of Washington, Seattle 1993.
  121. Obwieszczenie Ministra Zdrowia z dnia 30 sierpnia 2023 r. w sprawie wykazu refundowanych leków, środków spożywczych specjalnego przeznaczenia żywieniowego oraz wyrobów medycznych na 1 września 2023 r. Załącznik B.104. https://www.gov.pl/web/zdrowie/obwieszczenie-ministra-zdrowia-z-dnia-30-sierpnia-2023-r-w-sprawie-wykazu-refundowanych-lekow-srodkow-spozywczych-specjalnego-przeznaczenia-zywieniowego-oraz-wyrobow-medycznych-na-1-wrzesnia-2023-r (September 22, 2023).
  122. Biegstraaten M, Arngrímsson R, Barbey F, et al. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: The European Fabry Working Group consensus document. Orphanet J Rare Dis. 2015; 10: 36.
    CrossRefPubMed
  123. El Dib R, Gomaa H, Carvalho RP, et al. Enzyme replacement therapy for Anderson-Fabry disease. Cochrane Database Syst Rev. 2016; 7(7): CD006663.
    CrossRefPubMed
  124. Arends M, Biegstraaten M, Wanner C, et al. Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: An international cohort study. J Med Genet. 2018; 55(5): 351–358.
    CrossRefPubMed
  125. Germain DP, Charrow J, Desnick RJ, et al. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. J Med Genet. 2015; 52(5): 353–358.
    CrossRefPubMed
  126. Skrunes R, Tøndel C, Leh S, et al. Long-term dose-dependent agalsidase effects on kidney histology in Fabry disease. Clin J Am Soc Nephrol. 2017; 12(9): 1470–1479.
    CrossRefPubMed
  127. Sirrs et al., J Inherit Metab Dis. 2018; 41 (Suppl 1): S188. El Dib, Cochrane Database Syst Rev. 2016; 7 (7): CD006663.
  128. Weidemann F, Krämer J, Duning T, et al. Patients with Fabry disease after enzyme replacement therapy dose reduction versus treatment switch. J Am Soc Nephrol. 2014; 25(4): 837–849.
    CrossRefPubMed
  129. Lenders M, Canaan-Kühl S, Krämer J, et al. Patients with Fabry disease after enzyme replacement therapy dose reduction and switch-2-year follow-up. J Am Soc Nephrol. 2016; 27(3): 952–962.
    CrossRefPubMed
  130. El Dib R, Gomaa H, Ortiz A, et al. Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies. PLoS One. 2017; 12(3): e0173358.
    CrossRefPubMed
  131. 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): 545–555.
    CrossRefPubMed
  132. Hughes DA, Nicholls K, Sunder-Plassmann G, et al. Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study. Am J Med Genet A. 2019; 179(6): 1069–1073.
    CrossRefPubMed
  133. Schiffmann R, Bichet DG, Jovanovic A, et al. Migalastat improves diarrhea in patients with Fabry disease: Clinical-biomarker correlations from the phase 3 FACETS trial. Orphanet J Rare Dis. 2018; 13(1): 68.
    CrossRefPubMed
  134. Lenders M, Nordbeck P, Kurschat C, et al. Treatment of Fabry disease management with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS). Eur Heart J Cardiovasc Pharmacother. 2022; 8(3): 272–281.
    CrossRefPubMed
  135. Perretta F, Jaurretche S. Fabry disease: Switch from enzyme replacement therapy to oral chaperone migalastat: what do we know today? Healthcare (Basel). 2023; 11(4): 449.
    CrossRefPubMed
  136. Nowicki M, Bazan-Socha S, Błażejewska-Hyzorek B, et al. Enzyme replacement therapy in Fabry disease in Poland: A position statement. Pol Arch Intern Med. 2020; 130(1): 91–97.
    CrossRefPubMed
  137. van der Veen SJ, Vlietstra WJ, van Dussen L, et al. Predicting the development of anti-drug antibodies against recombinant alpha-galactosidase a in male patients with classical Fabry disease. Int J Mol Sci. 2020; 21(16): 5784.
    CrossRefPubMed
  138. El Dib R, Gomaa H, Ortiz A, et al. Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies. PLoS One. 2017; 12(3): e0173358.
    CrossRefPubMed
  139. Schiffmann R, Goker-Alpan O, Holida M, et al. Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year phase 1/2 clinical trial. J Inherit Metab Dis. 2019; 42(3): 534–544.
    CrossRefPubMed
  140. Wallace E, Goker-Alpan W, Holida B, et al. First results of a head-to-head trial of pegunigalsidase alfa vs. agalsidase beta in Fabry disease: 2 year results of the phase 3 randomized, double-blind, BALANCE study. Mol Genet Metab . 2023; 138(2): 107351.
    CrossRef
  141. Deegan PB, Goker-Alpan O, Geberhiwot T, et al. Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study. Mol Genet Metab. 2023; 138(2): 106963.
    CrossRefPubMed
  142. Guérard N, Oder D, Nordbeck P, et al. Lucerastat, an iminosugar for substrate reduction therapy: Tolerability, pharmacodynamics, and pharmacokinetics in patients with Fabry disease on enzyme replacement. Clin Pharmacol Ther. 2018; 103(4): 703–711.
    CrossRefPubMed
  143. Umer M, Kalra DK. Treatment of Fabry disease: Established and emerging therapies. Pharmaceuticals (Basel). 2023; 16(2): 320.
    CrossRefPubMed
  144. A study to evaluate the effect of venglustat tablets on left ventricular mass index in male and female adult participants with Fabry disease (CARAT). https://clinicaltrials.gov/study/NCT05280548 (September 20, 2023).
  145. Hennermann JB, Arash-Kaps L, Fekete G, et al. Pharmacokinetics, pharmacodynamics, and safety of moss-aGalactosidase A in patients with Fabry disease. J Inherit Metab Dis. 2019; 42(3): 527–533.
    CrossRefPubMed
  146. Linthorst GE, Hollak CEM, Donker-Koopman WE, et al. Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta. Kidney Int. 2004; 66(4): 1589–1595.
    CrossRefPubMed
  147. Nakano S, Tsukimura T, Togawa T, et al. Rapid immunochromatographic detection of serum anti-α-galactosidase a antibodies in Fabry patients after enzyme replacement therapy. PLoS One. 2015; 10(6): e0128351.
    CrossRefPubMed
  148. Wilcox WR, Banikazemi M, Guffon N, et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet. 2004; 75(1): 65–74.
    CrossRefPubMed
  149. Lenders M, Stypmann J, Duning T, et al. Serum-Mediated inhibition of enzyme replacement therapy in Fabry disease. J Am Soc Nephrol. 2016; 27(1): 256–264.
    CrossRefPubMed
  150. Lenders M, Brand E. Assessment and impact of dose escalation on anti-drug antibodies in Fabry disease. Front Immunol. 2022; 13: 1024963.
    CrossRefPubMed
  151. Stappers F, Scharnetzki D, Schmitz B, et al. Neutralising anti-drug antibodies in Fabry disease can inhibit endothelial enzyme uptake and activity. J Inherit Metab Dis. 2020; 43(2): 334–347.
    CrossRefPubMed
  152. Lenders M, Oder D, Nowak A, et al. Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease. J Intern Med. 2017; 282(3): 241–253.
    CrossRefPubMed
  153. Doheny D, Srinivasan R, Pagant S, et al. Fabry Disease: Prevalence of affected males and heterozygotes with pathogenic mutations identified by screening renal, cardiac and stroke clinics, 1995-2017. J Med Genet. 2018; 55(4): 261–268.
    CrossRefPubMed
  154. Najafian B, Tøndel C, Svarstad E, et al. Accumulation of globotriaosylceramide in podocytes in Fabry nephropathy is associated with progressive podocyte loss. J Am Soc Nephrol. 2020; 31(4): 865–875.
    CrossRefPubMed

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