FABRY DISEASES IN CHILDREN – FROM SUSPICION TO DIAGNOSIS
FABRY DISEASES IN CHILDREN – FROM SUSPICION TO DIAGNOSIS
Keywords:
Fabry disease, children, enzyme replacement therapyAbstract
It is clearly apparent that rare diseases are not so rare as we seldom think of them. This is a consequence of the inherited belief that most rare diseases have a grave prognosis, as well the objective difficulties in diagnostic capacity and patient access to health care and treatment. Recent advances in medical technologies, laboratory testing, and pharmacology that have led to the development of new treatment modalities, also pose a challenge to the medical community in better-taking care of these patients. Fabry disease is a typical rare disease deserving medical community attention, presumably due to better diagnosis and utilization of novel treatment modalities in the form of the enzyme replacement therapy.
References
Mehta A, Beck M, Eyskens F, Feliciani C, Kantola I, Ramaswami U, et al. Fabry disease: A review of current management strategies. QJM. 2010. 103(9):641-59.
Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, et al. Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy. Annals of Internal Medicine. 2003. 18;138(4):338-46
Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, et al. High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet. 2006; 79(1):31-40.
Zarate Y a., Hopkin RJ. Fabry’s disease. Lancet [Internet]. 2008;372(9647):1427–35. Available from: http://dx.doi.org/10.1016/S0140-6736(08)61589-5
Nowak A, Mechtler TP, Hornemann T, Gawinecka J, Theswet E, Hilz MJ, et al. Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease. Mol Genet Metab. 2018; 123(2):148-153
Stepien KM, Hendriksz CJ. Lipid profile in adult patients with Fabry disease - Ten-year follow up. Mol Genet Metab Reports. 2017; 13;13:3-6
Aerts JM, Groener JE, Kuiper S, Donker-Koopman WE, Strijland A, Ottenhoff R, et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A. 2008; 26;105(8):2812-7
Clarke JTR. Narrative review: Fabry disease. Annals of Internal Medicine. 2007. 20;146(6):425-33.
Schiffmann R, Fuller M, Clarke LA, Aerts JMFG. Is it Fabry disease? Genetics in Medicine. 2016. 18, pages1181–1185(2016)
Colon C, Ortolano S, Melcon-Crespo C, Alvarez J V., Lopez-Suarez OE, Couce ML, et al. Newborn screening for Fabry disease in the north-west of Spain. Eur J Pediatr. 2017; 176(8):1075-1081
Ries M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ, et al. Pediatric fabry disease. Pediatrics. 2005; 115(3):e344-55
Marchesoni CL, Roa N, Pardal AM, Neumann P, C??ceres G, Martinez P, et al. Misdiagnosis in Fabry Disease. J Pediatr. 2010;156(5):828–31.
Linthorst GE, De Rie MA, Tjiam KH, Aerts JMFG, Dingemans KP, Hollak CEM. Misdiagnosis of Fabry disease: Importance of biochemical confirmation of clinical or pathological suspicion. Br J Dermatol. 2004;150(3):575–7.
Zizzo C, Colomba P, Albeggiani G, Gallizzi R, Iemolo F, Nuzzo D, et al. Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease. Clin Genet. 2013;
Grbić N, Jurašić MJ, Zavoreo I, Matovina LZ, Bašić Kes V. Neurologic complications of Anderson-Fabry disease. Acta Medica Croat. 2018; 83(6):576-81
Argoff CE, Barton NW, Brady RO, Ziessman HA. Gastrointestinal symptoms and delayed gastric emptying in fabry’s disease response to metoclopramide. Nucl Med Commun. 1998; 19(9):887-91
Burlina AP, Sims KB, Politei JM, Bennett GJ, Baron R, Sommer C, et al. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: The report of an expert panel. BMC Neurology. 2011. 27;11
Zampetti A, Orteu CH, Antuzzi D, Bongiorno MR, Manco S, Gnarra M, et al. Angiokeratoma: Decision-making aid for the diagnosis of Fabry disease. British Journal of Dermatology. 2012. 166(4):712-20.
Choudhury S, Meehan S, Shin HT. Fabry disease: An atypical presentation. Pediatr Dermatol. 2005; 22(4):334-7
Spada M, Enea A, Morrone A, Fea A, Porta F. Cornea verticillata and fabry disease. J Pediatr. 2013; 163(2):609
Sodi A, Ioannidis AS, Mehta A, Davey C, Beck M, Pitz S. Ocular manifestations of Fabry’s disease: Data from the Fabry Outcome Survey. Br J Ophthalmol. 2007; 91(2):210-4
Politei J, Thurberg BL, Wallace E, Warnock D, Serebrinsky G, Durand C, et al. Gastrointestinal involvement in Fabry disease: So important, yet often neglected. Clinical Genetics. 2016. 89(1):5-9
Hoffmann B, Schwarz M, Mehta A, Keshav S. Gastrointestinal Symptoms in 342 Patients With Fabry Disease: Prevalence and Response to Enzyme Replacement Therapy. Clin Gastroenterol Hepatol. 2007; 5(12):1447-53
Pensabene L, Sestito S, Nicoletti A, Graziano F, Strisciuglio P, Concolino D. Gastrointestinal symptoms of patients with Fabry disease. Gastroenterol Res Pract. 2016; 2016:9712831
El-Shahawy MA, Mesa C, Koss M, Campese VM. A 19-Year-Old Female with fever, acroparesthesia, and progressive deterioration of renal function. Am J Nephrol. 1996;
Ramaswami U, Najafian B, Schieppati A, Mauer M, Bichet DG. Assessment of renal pathology and dysfunction in children with fabry disease. In: Clinical Journal of the American Society of Nephrology. 2010. 5(2):365-70
Tøndel C, Bostad L, Hirth A, Svarstad E. Renal Biopsy Findings in Children and Adolescents With Fabry Disease and Minimal Albuminuria. Am J Kidney Dis. 2008; 51(5):767-76
Kampmann C, Wiethoff CM, Whybra C, Baehner FA, Mengel E, Beck M. Cardiac manifestations of Anderson-Fabry disease in children and adolescents. Acta Paediatr Int J Paediatr. 2008; 97(4):463-9
Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, et al. Safety and Efficacy of Recombinant Human α-Galactosidase A Replacement Therapy in Fabry’s Disease. N Engl J Med. 2001; 5;345(1):9-16
Vedder AC, Breunig F, Donker-Koopman WE, Mills K, Young E, Winchester B, et al. Treatment of Fabry disease with different dosing regimens of agalsidase: Effects on antibody formation and GL-3. Mol Genet Metab. 2008; 94(3):319-25
Arends M, Biegstraaten M, Hughes DA, Mehta A, Elliott PM, Oder D, et al. Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors. PLoS One. 2017; 1;12(8):e0182379
Feldt-Rasmussen U, Hughes D, Sunder-Plassmann G, Shankar S, Nedd K, Olivotto I, et al. Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study. Mol Genet Metab. 2020; 131(1-2):219-228
Bjelakovic B, Pejcic L, Parezanovic V. Vomiting as the initial clinical presentation of myocardial infarction in children with anomalous left coronary artery from the pulmonary trunk. Turk J Pediatr. 2008 Sep-Oct;50(5):476-9
