Top

Published in:

Open Access 01-06-2010 | Original Article

Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy

Authors: Alessandro Salviati, Alessandro P. Burlina, Walter Borsini

Published in: Neurological Sciences | Issue 3/2010

Abstract

The X-linked genetic Fabry disease causes multiorgan lesions due to intracellular storage of the substrate globotriaosylceramide. Neurological involvement ranges from painful, small fiber neuropathy to cerebrovascular disorders to multifocal aggressive forms. Disease identification through proper differential diagnosis and timely assessment of organ damage should guide a careful treatment planning. Mainstay treatment, include enzyme replacement and support therapy. Neurologists have a pivotal role in early instrumental and clinical detection of organ damage. A panel of experts has developed a set of consensus recommendations to guide the approach of neurologists to Fabry disease.

Available only for authorised users

Brady RO, Gal AE, Bradley RM, Martensonn E, Warshaw AL, Laster L (1967) Enzymatic defect in Fabry’s disease: ceramidetrihexosidase deficiency. New Engl J Med 276:1163–1167PubMedCrossRef

Desnick RJ, Ioannou YA, Eng ME (2001) α-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease, vol 3, 8th edn. McGraw-Hill, New York, pp 3733–3774

MacDermot KD, Holmes A, Miners AH (2001) Anderson–Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 38:750–760CrossRefPubMed

Mehta A, Widmer U (2006) Natural history of Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G (eds) Fabry disease: perspectives from 5 years of FOS. Oxford Pharmagenesis, Oxford, pp 183–188

Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C, Linhart A, Sunder-Plassmann G, Ries M, Beck M (2004) Fabry disease defined: baseline clinical manifestations of 336 patients in the Fabry outcome survey. Eur J Clin Invest 34:236–242CrossRefPubMed

Eng CM, Fletcher J, Wilcox WR, Waldek S, Scott CR, Sillence DO, Breunig F, Charrow J, Germain DP, Nicholls K, Banikazemi M (2007) Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 30:184–192CrossRefPubMed

Buechner S, Moretti M, Burlina AP, Cei G, Manara R, Ricci R, Mignani R, Parini R, Di Vito R, Giordano GP, Simonelli P, Siciliano G, Borsini W (2008) Central nervous system involvement in Anderson–Fabry disease: a clinical and MRI retrospective study. J Neurol Neurosurg Psychiatry 79:1249–1254CrossRefPubMed

Fellgiebel A, Müller MJ, Ginsberg L (2006) CNS manifestations of Fabry’s disease. Lancet Neurol 5:791–795CrossRefPubMed

Møller AT, Jensen TS (2007) Neurological manifestations in Fabry’s disease. Nat Clin Pract Neurol 3:95–106CrossRefPubMed

10.

Lidove O, Chauveheid MP, Caillaud C, Froissart R, Benoist L, Alamowitch S, Doan S, Szalat R, Baumann N, Alexandra JF, Lavallée P, Klein I, Vuillemet F, Sedel F, Sacré K, Samson Y, Roullet E, Papo T (2009) Aseptic meningitis and ischemic stroke in Fabry disease. Int J Clin Pract 63:1663–1667CrossRefPubMed

11.

Invernizzi P, Bonometti MA, Turri E, Benedetti MD, Salviati A (2008) A case of Fabry disease with central nervous system (CNS) demyelinating lesions: a double trouble? Mult Scler 14:1003–1006CrossRefPubMed

12.

Clavelou P, Besson G (2007) Neurological aspects of Fabry disease. Presse Med 36 Spec No 1:1S65–S68

13.

Schiffmann R (2009) Fabry disease. Pharmacol Ther 122:65–77CrossRefPubMed

14.

Low M, Nicholls K, Tubridy N, Hand P, Velakoulis D, Kiers L, Mitchell P, Becker G (2007) Neurology of Fabry disease. Intern Med J 37:436–447CrossRefPubMed

15.

Laaksonen SM, Röyttä M, Jääskeläinen SK, Kantola I, Penttinen M, Falck B (2008) Neuropathic symptoms and findings in women with Fabry disease. Clin Neurophysiol 119:1365–1372CrossRefPubMed

16.

Liguori R, Di Stasi V, Bugiardini E, Mignani R, Burlina A, Borsini W, Baruzzi A, Montagna P, Donadio V (2010) Small fiber neuropathy in female patients with Fabry disease. Muscle Nerve 41:409–412CrossRefPubMed

17.

Conti G, Sergi B (2003) Auditory and vestibular findings in Fabry disease: a study of hemizygous males and heterozygous female. Acta Paediatr 92(Suppl 443):33–37

18.

Fellgiebel A, Müller MJ, Mazanek M, Baron K, Beck M, Stoeter P (2005) White matter lesion severity in male and female patients with Fabry disease. Neurology 65:600–602CrossRefPubMed

19.

Ginsberg L, Manara R, Valentine AR, Kendall B, Burlina AP (2006) Magnetic resonance imaging changes in Fabry disease. Acta Paediatr 95(Suppl 451):57–62CrossRef

20.

Burlina AP, Manara R, Caillaud C, Laissy JP, Severino M, Klein I, Burlina A, Lidove O (2008) The pulvinar sign: frequency and clinical correlations in Fabry disease. J Neurol 255:738–744CrossRefPubMed

21.

Rolfs A, Böttcher T, Zschiesche M, Morris P, Winchester B, Bauer P, Walter U, Mix E, Löhr M, Harzer K, Strauss U, Pahnke J, Grossmann A, Benecke R (2005) Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 366:1794–1796CrossRefPubMed

22.

Fellgiebel A, Keller I, Marin D, Müller MJ, Schermuly I, Yakushev I, Bellhäuser H, Kinateder M, Beck M, Stoeter P (2009) Diagnostic utility of different MRI and MR angiography measures in Fabry disease. Neurology 72:63–68CrossRefPubMed

23.

Moore DF, Altarescu G, Ling GS, Jeffries N, Frei KP, Weibel T, Charria-Ortiz G, Ferri R, Arai AE, Brady RO, Schiffmann R (2002) Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke 33:525–531CrossRefPubMed

24.

Hilz MJ, Kolodny EH, Brys M, Stemper B, Haendl T, Marthol H (2004) Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease. J Neurol 251:564–570CrossRefPubMed

25.

Buechner S, Luzzi C, Mannucci M, Massi D, Borsini W (2006) Diagnosis of Anderson-Fabry’s disease in over seventy year-old women: description of two cases. Aging Clin Exp Res 18:340–343PubMed

26.

Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE, Desnick RJ, Germain DP, International Fabry Disease Study Group (2004) Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 75:65–74CrossRefPubMed

27.

Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR (2003) Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138:338–346PubMed

28.

Rankin J (1957) Cerebral vascular accidents in patients over the age of 60. II. Prognosis. Scott Med J 2:200–215PubMed

29.

The EuroQol Group (1990) EuroQol—a new facility for the measurement of health-related quality of life. Health Policy 16:199–208

30.

Whybra C, Bähner F, Baron K (2006) Measurement of disease severity and progression in Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G (eds) Fabry disease: perspectives from 5 years of FOS. Oxford Pharmagenesis, Oxford, pp 315–322

31.

Lidove O, Joly D, Barbey F, Bekri S, Alexandra JF, Peigne V, Jaussaud R, Papo T (2007) Clinical results of enzyme replacement therapy in Fabry disease: a comprehensive review of literature. Int J Clin Pract 61:293–302CrossRefPubMed

32.

Schaefer RM, Tylki-Szymanska A, Hilz MJ (2009) Enzyme replacement therapy for Fabry disease: a systematic review of available evidence. Drugs 69:2179–2205CrossRefPubMed

33.

Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, Bultas J, Lee P, Sims K, Brodie SE, Pastores GM, Strotmann JM, Wilcox WR (2006) Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 8:539–548CrossRefPubMed

34.

Lubanda JC, Anijalg E, Bzdúch V, Thurberg BL, Bénichou B, Tylki-Szymanska A (2009) Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease. Genet Med 11:256–264CrossRefPubMed

35.

Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, Finkel R, Packman S, Bichet DG, Warnock DG, Desnick RJ, Fabry Disease Clinical Trial Study Group (2007) Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 146:77–86PubMed

36.

Hughes DA, Elliott PM, Shah J, Zuckerman J, Coghlan G, Brookes J, Mehta AB (2008) Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa. Heart 94:153–158CrossRefPubMed

37.

Parini R, Rigoldi M, Santus F, Furlan F, De Lorenzo P, Valsecchi G, Concolino D, Strisciuglio P, Feriozzi S, Di Vito R, Ravaglia R, Ricci R, Morrone A (2008) Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson–Fabry disease: testing the effects with the Mainz Severity Score Index. Clin Genet 74:260–266CrossRefPubMed

38.

Spinelli L, Pisani A, Sabbatini M, Petretta M, Andreucci MV, Procaccini D, Lo Surdo N, Federico S, Cianciaruso B (2004) Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry’s disease. Clin Genet 66:158–165CrossRefPubMed

39.

Hajioff D, Hegemann S, Conti G, Beck M, Sunder-Plassmann G, Widmer U, Mehta A, Keilmann A (2006) Agalsidase alpha and hearing in Fabry disease: data from the Fabry Outcome Survey. Eur J Clin Invest 36:663–667CrossRefPubMed

40.

Hilz MJ, Brys M, Marthol H, Stemper B, Dütsch M (2004) Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fibers in Fabry neuropathy. Neurology 62:1066–1072PubMed

41.

Hoffmann B, Beck M, Sunder-Plassmann G, Borsini W, Ricci R, Mehta A, European Investigators FOS (2007) Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy–a retrospective analysis from the Fabry Outcome Survey. Clin J Pain 23:535–542CrossRefPubMed

42.

Schiffmann R, Floeter MK, Dambrosia JM, Gupta S, Moore DF, Sharabi Y, Khurana RK, Brady RO (2003) Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve 28:703–710CrossRefPubMed

43.

Schiffmann R, Hauer P, Freeman B, Ries M, Scott LJ, Polydefkis M, Brady RO, McArthur JC, Wagner K (2006) Enzyme replacement therapy and intraepidermal innervation density in Fabry disease. Muscle Nerve 34:53–56CrossRefPubMed

44.

Cousins A, Lee P, Rorman D, Raas-Rothschild A, Banikazemi M, Waldek S, Thompson L (2008) Home-based infusion therapy for patients with Fabry disease. Br J Nurs 17:653–657PubMed

45.

Hughes DA, Mlilligan A, Mehta A (2007) Home therapy for lysosomal storage disorders. Br J Nurs 16:1384, 1386–1389PubMed

46.

Linthorst GE, Vedder AC, Ormel EE, Aerts JM, Hollak CE (2006) Home treatment for Fabry disease: practice guidelines based on 3 years experience in The Netherlands. Nephrol Dial Transplant 21:355–360CrossRefPubMed

47.

Filling-Katz MR, Merrick HF, Fink JK, Miles RB, Sokol J, Barton NW (1989) Carbamazepine in Fabry’s disease: effective analgesia with dose-dependent exacerbation of autonomic dysfunction. Neurology 39:598–600PubMed

48.

Ries M, Mengel E, Kutschke G, Kim KS, Birklein F, Krummenauer F, Beck M (2003) Use of gabapentin to reduce chronic neuropathic pain in Fabry disease. J Inherit Metab Dis 26:413–414CrossRefPubMed

49.

Schreiber W, Udvardi A, Kristoferitsch W (2007) Chronic meningitis and lacunar stroke in Fabry disease. J Neurol 254:1447–1449CrossRefPubMed

50.

Caraceni A, Mendoza TR, Mencaglia E, Baratella C, Edwards K, Forjaz MJ, Martini C, Serlin RC, de Conno F, Cleeland CS (1996) A validation study of an Italian version of the Brief Pain Inventory (Breve Questionario per la Valutazione del Dolore). Pain 65:87–92CrossRefPubMed

51.

Melzack R (1987) The short-form McGill Pain Questionnaire. Pain 30:191–197CrossRefPubMed

Title: Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy
Authors: Alessandro Salviati
Alessandro P. Burlina
Walter Borsini
Publication date: 01-06-2010
Publisher: Springer Milan
Published in: Neurological Sciences / Issue 3/2010
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-009-0211-y

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy

Abstract

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 3/2010

The existence of phonatory instability in multiple sclerosis: an acoustic and electroglottographic study

Myocardial MIBG scintigraphy: a useful clinical tool?

Diagnosis, treatment and follow-up of the carpal tunnel syndrome: a review

CSF proteomic analysis in patients with normal pressure hydrocephalus selected for the shunt: CSF biomarkers of response to surgical treatment

Subacute cognitive disorders as initial presentation of intravascular lymphoma: a case report and review of literature

Insulinoma presenting as idiopathic hypersomnia