Page 239 - Read Online
P. 239

Brooks et al.                                                                                                                                                          Neurological manifestations in Fabry disease

           PERIPHERAL NEUROPATHY                              life for patients with FD.

           Peripheral neuropathy has an important negative    Financial support and sponsorship
           impact on quality of life among FD patients. It has been   Nil.
           described as being present since the beginning of GL-3
           deposition, i.e. from these patients’ first years of life. It   Conflict of interest
           affects both genders equally, and is often associated   There are no conflicts of interest.
           with fever and pain during exercise. The pain may last
           for periods ranging from minutes up to several days,   Patient consent
           and may be incapacitating. [31-35]                 No patient involved.

           As mentioned  above regarding  other neurological   Ethics approval
           manifestations  of  FD,   the   pathophysiological  This article does not contain any studies with human
           mechanisms of  neuropathy  are not fully understood   participants or animals.
           either. It has been proposed that inhibition of central
           nociceptors  would  occur as a result of constant   REFERENCES
           activation of nociceptive  afferents, in association
           with neuronal  dysfunction, Wallerian  degeneration,   1.   Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman
                                                                 M, Grabowski G, Packman S, Wilcox WR. Fabry disease, an under-
           activation of the inflammatory cascade, vasa nervorum   recognized  multisystemic  disorder:  expert  recommendations  for
           ischemia  and  molecular  changes  in the peripheral   diagnosis, management, and enzyme replacement therapy. Ann Intern
           nociceptor,  similar to dying-back neuropathies. [36-40]    Med 2003;138:338-46.
           In addition, disproportion  and  dysfunction  of axonal   2.   Van der Tol L, Smid BE, Poorthuis BJ, Biegstraaten M, Deprez RH,
           sodium  channels  would  increase  the  frequency  of   Linthorst GE, Hollak CE. A systematic review on screening for Fabry
           nociceptive  discharge.  This last topic has practical   disease: prevalence of individuals with genetic variants of unknown
           importance,  since pain  treatment in these patients   3.   significance. J Med Genet 2014;51:1-9.
                                                                 Bowman  MG,  Rombach  SM,  Linthorst  GE,  Poorthuis  BJ,  Deprez
           must be carried out using sodium  channel-blocking    RH, Aerts JM, Wijburg FA. Early cerebral manifestations in a young
           drugs such as carbamazepine. Involvement of distal,   female with Fabry disease with skewed X-inactivation. Clin Genet
           small  Aδ-  myelinated  fibers  and  C-unmyelinated   2011;80:500-2.
           fibers  is  prevalent  among  patients  with  symptoms   4.   Echevarria  L,  Benistan  K,  Toussaint  A,  Dubourg  O,  Hagege  AA,
           relating to temperature. It is important to establish a   Eladari  D,  Jabbour  F,  Beldjord  C,  De  Mazancourt  P,  Germain  DP.
           uniform quantitative assessment battery for sensitive   X-chromosome inactivation  in female  patients  with Fabry disease.
           symptoms. [41-45]                                     Clin Genet 2016;89:44-54.
                                                              5.   Rigoldi M, Concolino D, Morrone A, Pieruzzi F, Ravaglia R, Furlan
                                                                 F, Santus F, Strisciuglio P, Torti G, Parini R. Intrafamilial phenotypic
           ENZYME REPLACEMENT TREATMENT                          variability in four families with Anderson-Fabry disease. Clin Genet
                                                                 2014;86:258-63.
           Enzyme replacement  therapy with humanized         6.   Najafian B, Fogo AB, Lusco MA, Alpers CE. AJKD Atlas of Renal
           recombinant  α-Gal  A  (agalsidade  beta,  or  more   Pathology: fabry nephropathy. Am J Kidney Dis 2015;66:e35-6.
           recently, agalsidase  alpha)  reduces  the secondary   7.   Frustaci A, Morgante E, Russo MA, Scopelliti F, Grande C, Verardo
                                                                 R, Franciosa P, Chimenti C. Pathology and function of conduction
           clinical events  relating to  FD  by  60% to  80%.  The   tissue in Fabry disease cardiomyopathy. Circ Arrhythm Electrophysiol
           effect of this enzyme replacement is seen in prevention   2015;8:799-805.
           of  cerebral, renal and cardiological  life-threatening   8.   Politei J, Thurberg BL, Wallace E, Warnock D, Serebrinsky G, Durand
           events, which, in untreated patients, are responsible   C, Schenone AB. Gastrointestinal involvement in Fabry disease. So
           for more than 90% of deaths. [46,47]  There is evidence   important, yet often neglected. Clin Genet 2016;89:5-9.
           that early treatment with enzyme replacement       9.   Moore  DF,  Kaneski  CR,  Askari  H,  Schiffmann  R.  The  cerebral
                                                                 vasculopathy of Fabry disease. J Neurol Sci 2007;257:258-63.
           therapy can stabilize vascular disease progression   10.  Zarate YA, Hopkin RJ. Fabry’s disease. Lancet 2008;372:1427-35.
           and decrease the risk of stroke.  Patients may have   11.  Mitsias  P,  Levine  SR.  Cerebrovascular  complications  of  Fabry’s
                                        [48]
           different response to treatment with agalsidade alpha   disease. Ann Neurol 1996;40:8-17.
           or beta. [49-51]                                   12.  Utsumi K, Ueda K, Watanabe M, Sakamaki M, Arii K, Yamazaki M,
                                                                 Komaba Y, Katsura K, Iino Y, Katayama Y. Thrombosis in Japanese
           CONCLUSION                                            patients with Fabry disease. J Neurol Sci 2009;283:83-5.
                                                              13.  Altarescu G, Moore DF, Schiffmann R. Effect of genetic modifiers on
                                                                 cerebral lesions in Fabry disease. Neurology 2005;64:2148-50.
           Neurological manifestations of FD are often related to   14.  Saarinen  JT,  Sillanpää  N,  Kantola  I. A  male  Fabry  disease  patient
           significant morbidity and mortality. Early detection and   treated  with  intravenous thrombolysis  for acute  ischemic  stroke.  J
           specific treatment of neurological involvement in cases   Clin Neurosci 2015;2:423-5.
           of α-Gal A deficiency may result in improved quality of   15.  Moore DF, Herscovitch P, Schiffmann R. Selective arterial distribution
            230                                                                  Neuroimmunology and Neuroinflammation ¦ Volume 3 ¦ October 28, 2016
   234   235   236   237   238   239   240   241   242   243   244