Abstract
There is growing evidence that both male and female AFD patients are at risk for developing neuropsychiatric symptoms. An expanding number of studies have demonstrated that these patients suffer from psychiatric disorders, especially from depression. Results of studies of the patients’ cognitive function are variable, ranging from severe impairment to normal functioning. Living with a chronic and painful disease, might be related to the difficult psychosocial adjustment of AFD patients. More attention should be given to the psychiatric and cognitive needs of the patients. We recommend that neuropsychiatric evaluation, and treatment should be included in the multidisciplinary care of AFD patients.
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References
Wilcox WR, Oliveira JP, Hopkin RJ et al (2008) Females with Fabry disease frequently have major organ involvement: lessons from the Fabry registry. Mol Genet Metab 93(2):112–128
Hoffmann B, Garcia de Lorenzo A, Mehta A, Beck M, Widmer U, Ricci R (2005) Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey). J Med Genet 42(3):247–252
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(11):750–760
Mehta A, Clarke JT, Giugliani R et al (2009) Natural course of Fabry disease: changing pattern of causes of death in FOS – Fabry outcome survey. J Med Genet 46(8):548–552
Mehta A, Ricci R, Widmer U et al (2004) Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry outcome survey. Eur J Clin Invest 34(3):236–242
Grewal RP (1993) Psychiatric disorders in patients with Fabry’s disease. Int J Psychiatry Med 23(3):307–312
Cole AL, Lee PJ, Hughes DA, Deegan PB, Waldek S, Lachmann RH (2007) Depression in adults with Fabry disease: a common and under-diagnosed problem. J Inherit Metab Dis 30(6):943–951
Crosbie TW, Packman W, Packman S (2009) Psychological aspects of patients with Fabry disease. J Inherit Metab Dis 32(6):745–753
Mendez MF, Stanley TM, Medel NM, Li Z, Tedesco DT (1997) The vascular dementia of Fabry’s disease. Dement Geriatr Cogn Disord 8(4):252–257
Mohanraj R, Leach JP, Broome JC, Smith DF (2002) Neurological presentation of Fabry’s disease in a 52 year old man. J Neurol Neurosurg Psychiatry 73(3):340–342
Muller MJ (2006) Neuropsychiatric and psychosocial aspects of Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G (eds) Fabry disease: perspectives from 5 years of FOS. Oxford PharmaGenesis Ltd, Oxford
Wise D, Wallace HJ, Jellinek EH (1962) Angiokeratoma corporis diffusum. A clinical study of eight affected families. Q J Med 31:177–206
Grewal RP (1993) Psychiatric disorders in patients with Fabry’s disease. Int J Psychiatry Med 23(3):307–312
Sadek J, Shellhaas R, Camfield CS, Camfield PR, Burley J (2004) Psychiatric findings in four female carriers of Fabry disease. Psychiatr Genet 14(4):199–201
MacDermot KD, Holmes A, Miners AH (2001) Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 38(11):769–775
Sadek J, Shellhaas R, Camfield CS, Camfield PR, Burley J (2004) Psychiatric findings in four female carriers of Fabry disease. Psychiatr Genet 14(4):199–201
Liston EH, Levine MD, Philippart M (1973) Psychosis in Fabry disease and treatment with phenoxybenzamine. Arch Gen Psychiatry 29(3):402–403
Shen YC, Haw-Ming L, Lin CC, Chen CH (2007) Psychosis in a patient with Fabry’s disease and treatment with aripiprazole. Prog Neuropsychopharmacol Biol Psychiatry 31(3):779–780
MacDermot KD, Holmes A, Miners AH (2001) Natural history of Fabry disease in affected males and obligate carrier females. J Inherit Metab Dis 24(Suppl 2):13–14, discussion 1–2
Moore DF, Kaneski CR, Askari H, Schiffmann R (2007) The cerebral vasculopathy of Fabry disease. J Neurol Sci 257(1–2):258–263
Low M, Nicholls K, Tubridy N et al (2007) Neurology of Fabry disease. Intern Med J 37(7):436–447
Albrecht J, Dellani PR, Muller MJ et al (2007) Voxel based analyses of diffusion tensor imaging in Fabry disease. J Neurol Neurosurg Psychiatry 78(9):964–969
Jardim L, Vedolin L, Schwartz IV et al (2004) CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy. J Inherit Metab Dis 27(2):229–240
Moore DF, Altarescu G, Barker WC, Patronas NJ, Herscovitch P, Schiffmann R (2003) White matter lesions in Fabry disease occur in ‘prior’ selectively hypometabolic and hyperperfused brain regions. Brain Res Bull 62(3):231–240
Jokinen H, Kalska H, Mantyla R et al (2005) White matter hyperintensities as a predictor of neuropsychological deficits post-stroke. J Neurol Neurosurg Psychiatry 76(9):1229–1233
Tiehuis AM, Vincken KL, Mali WP et al (2008) Automated and visual scoring methods of cerebral white matter hyperintensities: relation with age and cognitive function. Cerebrovasc Dis 25(1–2):59–66
Herrmann LL, Le Masurier M, Ebmeier KP (2008) White matter hyperintensities in late life depression: a systematic review. J Neurol Neurosurg Psychiatry 79(6):619–624
Moore DF, Scott LT, Gladwin MT et al (2001) Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation 104(13):1506–1512
Shu L, Park JL, Byun J, Pennathur S, Kollmeyer J, Shayman JA (2009) Decreased nitric oxide bioavailability in a mouse model of Fabry disease. J Am Soc Nephrol 20(9):1975–1985
Pinto VL, Brunini TM, Ferraz MR, Okinga A, Mendes-Ribeiro AC (2008) Depression and cardiovascular disease: role of nitric oxide. Cardiovasc Hemat Agents Med Chem 6(2):142–149
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Segal, P., Raas-Rothschild, A. (2010). Neuropsychiatric Manifestations of AFD. In: Elstein, D., Altarescu, G., Beck, M. (eds) Fabry Disease. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-9033-1_19
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DOI: https://doi.org/10.1007/978-90-481-9033-1_19
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