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This coordinated statement by the Fabry Disease Expert Group was created with the aim of identifying areas where experts agreed on the conceptual, clinical and therapeutic aspects of Fabry disease. In addition, it was aimed at providing medical professionals with advice on the best methods of managing patients with Fabry's disease in both adults and children. This agreed statement notes the clinical heterogeneity of FD and the multitude of pathogenic variants of the GLA gene. This highlights the importance of an individual approach to the treatment of patients. Experts agreed that a high index of suspicion in patients with symptoms and screening of certain risk groups are crucial for a timely and accurate diagnosis of FD. They also increase the awareness of attending physicians about various pathogenetic variants and their clinical consequences. Experts stressed the vital importance of timely detection of fistula with minimal delay from the onset of symptoms to an accurate diagnosis in order to improve the management of patients with fistula. This is due to the possibility of changing the natural course of the disease, improving the quality of life of patients and prognosis after enzyme replacement therapy as part of a coordinated treatment approach that includes the joint use of various disciplines. It is expected that this agreed document will increase the awareness of physicians about the unique characteristics of FD to help them recognize FD with reasonable clinical suspicion, corresponding to pathogenic variants and heterogeneous clinical manifestations of FD based on gender. As a result, doctors will be able to integrate  this information into their clinical practice to ensure the best practice for managing patients with FD.

  • Количество прочтений 8
  • Дата публикации 01-11-2024
  • Язык статьиIngliz
  • Страницы64-73
English

This coordinated statement by the Fabry Disease Expert Group was created with the aim of identifying areas where experts agreed on the conceptual, clinical and therapeutic aspects of Fabry disease. In addition, it was aimed at providing medical professionals with advice on the best methods of managing patients with Fabry's disease in both adults and children. This agreed statement notes the clinical heterogeneity of FD and the multitude of pathogenic variants of the GLA gene. This highlights the importance of an individual approach to the treatment of patients. Experts agreed that a high index of suspicion in patients with symptoms and screening of certain risk groups are crucial for a timely and accurate diagnosis of FD. They also increase the awareness of attending physicians about various pathogenetic variants and their clinical consequences. Experts stressed the vital importance of timely detection of fistula with minimal delay from the onset of symptoms to an accurate diagnosis in order to improve the management of patients with fistula. This is due to the possibility of changing the natural course of the disease, improving the quality of life of patients and prognosis after enzyme replacement therapy as part of a coordinated treatment approach that includes the joint use of various disciplines. It is expected that this agreed document will increase the awareness of physicians about the unique characteristics of FD to help them recognize FD with reasonable clinical suspicion, corresponding to pathogenic variants and heterogeneous clinical manifestations of FD based on gender. As a result, doctors will be able to integrate  this information into their clinical practice to ensure the best practice for managing patients with FD.

№ Название ссылки
1 Ezgu F, Alpsoy E, Bicik Bahcebasi Z, Kasapcopur O, Palamar M, Onay H, Ozdemir BH, Topcuoglu MA, Tufekcioglu O. Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective. Orphanet J Rare Dis. 2022 Mar 2;17(1):90. doi: 10.1186/s13023-022-02215-x. Волкова Н. С., Путило Н. В., Цомартова Ф. В. и др. Орфанные заболевания и особые потребности граждан в лекарственном обеспечении // Право граждан на лекарственное обеспечение: монография / отв. ред. Н. В. Путило. М., 2017. С. 139—141. Сура М. В., Омельяновский В. В., Авксентьева М. В., Татаринов А. П., Герасимова К. В. Анализ количества и объемов финансирования больных с редкими заболеваниями в РФ. Медицинские технологии оценка и выбор № 3. 2014.c.43-50. Волкова Наталья Сергеевна, Аксу Эльвина. Редкие (орфанные) заболевания: правовое регулирование в россии и за рубежом. Журнал зарубежного законодательства и сравнительного правоведения № 4 — 2018. C.154-160. DOI: 10.12737/art.2018.4.20 Витковская И.П., Печатникова Н.Л., Петряйкина Е.Е., Колтунов И.Е. Раннее выявление врожденных и наследственных заболеваний (неонатальный скрининг, селективный скрининг). Опыт региона и перспективы развития. Русский медицинский журнал. Медицинское обозрение. 2018; 2 (1–1): 62–66. Волкова Н.С., Аксу Э. Редкие (орфанные) заболевания: правовое регулирование в России и за рубежом. Журнал зарубежного законодательства и сравнительного правоведения. 2018; 71 (4): 154–160 Чичерин Л.П., Прокофьева Я.А. Современные проблемы орфанных заболеваний. Бюллетень Национального научно-исследовательского института общественного здоровья имени Н.А. Семашко. 2019; 1: 118–124. Berry SA, Coughlin CR 2nd, McCandless S, McCarter R, Seminara J, Yudkoff M, LeMons C. Developing interactions with industry in rare diseases: lessons learned and continuing challenges. Genet. Med. 2020; 22 (1): 219–226. A.N. Aripov, O.A. Aripov, L.L. Akhunjanova, A.O’. Nabiev, B.B. Muhammadjonov, Karimov Sh.B., & Khamroev T.T. (2022). Problems and relevance of early diagnosis and treatment of severe hereditary and acquired diseases in children. Frontline Medical Sciences and Pharmaceutical Journal, 2(07), 6–15. https://doi.org/10.37547/medical-fmspj-02-07-02 Т.П. Васильева, Р.А. Зинченко, И.А. Комаров, Е.Ю. Красильникова, О.Ю. Александрова, О.Е. Коновалов, С.И. Куцев. Распространенность и вопросы диагностики редких (орфанных) заболеваний среди детского населения Российской Федерации. Педиатрия им. Г.Н. Сперанского. 2020; 99 (4): 229–237. Ахмедов А.А., Холбеков Ш.Т., Джулай Т.Е. Орфанные заболевания как медико- социальная проблема. Тверской медицинский журнал. 2020; 2: 59–64. Michalski AA, Lis K, Stankiewicz J, Kloska SM, Sycz A, Dudziński M, Muras-Szwedziak K, Nowicki M, Bazan-Socha S, Dabrowski MJ, et al. Supporting the Diagnosis of Fabry Disease Using a Natural Language Processing-Based Approach. Journal of Clinical Medicine. 2023; 12(10):3599. https://doi.org/10.3390/jcm12103599 Politei, J.M.; Bouhassira, D.; Germain, D.P.; Goizet, C.; Guerrero-Sola, A.; Hilz, M.J.; Hutton, E.J.; Karaa, A.; Liguori, R.; Üçeyler, N.; et al. Pain in Fabry disease: Practical recommendations for diagnosis and treatment. CNS Neurosci. Ther. 2016, 22, 568–576. Reisin, R.; Perrin, A.; García-Pavía, P. Time delays in the diagnosis and treatment of Fabry disease. Int. J. Clin. Pract. 2017, 71, e12914. Nowicki, M.; Bazan-Socha, S.; Błazejewska-Hyzorek, B.; Gellert, R.; Imiela, J.; Ka´zmierczak, J.; Kłopotowski, M.; Oko-Sarnowska, Z.; Pawlaczyk, K.; Ponikowski, P.; et al. Enzyme replacement therapy in Fabry disease in Poland: Position statement. Pol. Arch. Intern. Med. 2020, 130, 91–97. Mehta, A.; Beck, M.; Eyskens, F.; Feliciani, C.; Kantola, I.; Ramaswami, U.; Rolfs, A.; Rivera, A.; Waldek, S.; Germain, D. Fabry disease: A review of current management strategies. QJM Int. J. Med. 2010, 103, 641–659. Mroczkowski, R.; Rybak, P.; Wróblewska, A.; Gawlik, I. HerBERT: Efficiently pretrained transformer-based language model for Polish. arXiv 2021, arXiv:2105.01735. Waskom, M.L. seaborn: Statistical data visualization. J. Open Source Softw. 2021, 6, 3021. Virtanen, P.; Gommers, R.; Oliphant, T.E.; Haberland, M.; Reddy, T.; Cournapeau, D.; Burovski, E.; Peterson, P.; Weckesser, W.; Bright, J.; et al. SciPy 1.0: Fundamental Algorithms for Scientific Computing in Python. Nat. Methods 2020, 17, 261–272. Tuttolomondo, A.; Pecoraro, R.; Simonetta, I.; Miceli, S.; Pinto, A.; Licata, G. Anderson-Fabry disease: A multiorgan disease. Curr. Pharm. Des. 2013, 19, 5974–5996. Delarosa-Rodríguez, R.; Santotoribio, J.D.; Paula, H.A.; González-Meneses, A.; García-Morillo, S.; Jiménez-Arriscado, P.; Guerrero, J.M.; Macher, H.C. Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing. Clin. Genet. 2021, 99, 761–771. Harris, C.R.; Millman, K.J.; van der Walt, S.J.; Gommers, R.; Virtanen, P.; Cournapeau, D.; Wieser, E.; Taylor, J.; Berg, S.; Smith, N.J.; et al. Array programming with NumPy. Nature 2020, 585, 357–362. Elleder M., Bradova V., Smid F., Budesinsky M., Harzer K., Kustermann-Kuhn B., Ledvinova J., Belohlavek X., Kral V., Dora zi lova V. Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Virchows Arch. Pathol. Anat. Histopathol. 1990; 417: 449–455. Doi: 10.1007/BF01606034. Knol I.E., Ausems M.G., Lindhout D. et al. Different phenotypic expression in relatives with fabry disease caused by a W226X mutation // Am. J. Med. Genet. 1999. Vol. 82. № 5. P. 436–439. Eng C.M., Desnick R.J. Molecular basis of Fabry disease: mutations and polymorphisms in the human alphagalactosidase A gene // Hum. Mutat. 1994. Vol. 3. № 2. P. 103–111. Nakao S., Takenaka T., Maeda M., Kodama C., Tanaka A., Tahara M., Yoshida A., Kuriyama M., Hayashibe H., Sakuraba H., Tanaka H. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N. Engl. J. Med. 1995; 333: 288–293. Doi: 10.1056/NEJM199508033330504. Putko, Brendan N.; Wen, Kevin; Thompson, Richard B.; Mullen, John; Shanks, Miriam; Yogasundaram, Haran; Sergi, Consolato; Oudit, Gavin Y. (March 2015). "Anderson-Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment". Heart Failure Reviews. 20 (2): 179–191. doi:10.1007/s10741-014-9452-9. Germain DP, Arad M, Burlina A, Elliott PM, Falissard B, Feldt-Rasmussen U, 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;126:224–235. MacDermot K.D., Holmes A., Miners Mehta A. et. al. Fabry disease: a review of current management strategies // Q.J.M. — 2010. — Vol. 103. — P. 641-659. Naleschinski D., Arning K., Baron R. Fabry disease - Pain doctors have to fi nd the missing ones // Pain. — 2009. — Vol. 145. — P. 10- 11. Hoffmann, Bjoern; Beck, Michael; Sunder-Plassmann, Gere; Borsini, Walter; Ricci, Roberta; Mehta, Atul; FOS European, Investigators. (July 2007). "Nature and Prevalence of Pain in Fabry Disease and Its Response to Enzyme Replacement Therapy—A Retrospective Analysis From the Fabry Outcome Survey". The Clinical Journal of Pain. 23 (6): 535–542. doi:10.1097/AJP.0b013e318074c986. Fabry disease | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 17 April 2018. Nakao S., Kodama C., Takenaka T., Tanaka A., Yasumoto Y., Yoshi da A., Kanzaki T., Enriquez A. L., Eng C. M., Tanaka H., Tei C., Des nick R. J. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a «renal variant» phenotype. Kidney Int. 2003; 64: 801–807. Doi: 10.1046/j.1523-1755.2003.00160.x. Ashton-Prolla P., Tong B., Shabbeer J. et al. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes // J. Investig. Med. 2000. Vol. 48. № 4. P. 227–235.
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