Quantitative analysis of cerebral vasculopathy in patients with Fabry disease

Crutchfield, Kevin E.; Patronas, Nicholas J.; Dambrosia, James M.; Frei, Karen; Banerjee, Tapas Kumar; Barton, Norman W.; Schiffmann, Raphael

doi:10.1212/wnl.50.6.1746

Cited by 166 publications

(160 citation statements)

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“…As an earlier study demonstrated an association between cerebral white matter lesions and sleep-disordered breathing [45], the authors accordingly suspected an association between the radiologic findings in their patient and the Cheyne-Stokes breathing disorder [43]. Their conclusion is supported by the fact that severe progressive cerebral white matter lesions are common findings in FD and occur early in the disease process [46] and worsen with time [47].…”

Section: Sleep-related Breathing Disorder and Muscular Involvementmentioning

confidence: 71%

Pulmonary involvement in Fabry disease: Overview and perspectives

Franzen

Krayenbuehl

Lidove

et al. 2013

European Journal of Internal Medicine

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Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficiency of alphagalactosidase A, which leads to storage of sphingolipids in virtually all human cells and consequently to organ dysfunction. Pulmonary involvement is still debated. But, obstructive lung disease is up to ten times more prevalent in patients with FD compared to general public. Also, an accelerated decline in forced expiratory volume in one second (FEV1) over time was observed in these patients. Lysosomal storage of glycosphingolipids is considered leading to small airway disease via hyperplasia of the bronchiolar smooth muscle cells. Larger airways may become involved with ongoing disease process. There is no evidence for involvement of the lung interstitium in FD. The effect of enzyme replacement therapy on respiratory involvement remains to be determined in large, prospective controlled trials. AbstractFabry disease (FD) is an X-linked lysosomal storage disorder caused by deficiency of alpha-

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Section: Sleep-related Breathing Disorder and Muscular Involvementmentioning

confidence: 71%

Pulmonary involvement in Fabry disease: Overview and perspectives

Franzen

Krayenbuehl

Lidove

et al. 2013

European Journal of Internal Medicine

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“…However, the design of this previous study did not follow each lesion individually, and for this reason it would not be able to detect a disappearance of any lesion at all. As a matter of fact, few other studies on the natural history of CNS impact of FD have been published to date 2,[17][18][19] , and we have already discussed this topic 9 .…”

Section: Discussionmentioning

confidence: 99%

“…In middle age, most males develop cardio or cerebrovascular disease, or both, mainly due to multifocal small vessel involvement 1 . Cranial T2 and fluid attenuated inversion recovery (FLAIR) magnetic resonance imaging (MRI) may show cerebral vasculopathy in the form of multiple hyperintense lesions, typically present in deep gray matter, brainstem, and deep white matter of the hemispheres supplied by the perforating arteries [2][3][4] .…”

mentioning

confidence: 99%

White matter lesions in Fabry disease before and after enzyme replacement therapy: a 2-year follow-up

Jardim

Aesse

Vedolin

et al. 2006

Arq. Neuro-Psiquiatr.

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-Purpose: To report the clinical and neuroimaging, central nervous system (CNS) findings of patients with Fabry disease (FD) during 24 months of enzyme replacement therapy (ERT) with agalsidasealpha. Method: Eight patients were included. Six completed 24 months of ERT. Clinical and magnetic resonance imaging (MRI) data were obtained at 0, 12 and 24 months of ERT. White matter lesions (WML) were evaluated as well as their relation to age, symptoms and neurological examination (CNS score). Results: MRI was stable in 3 patients. WML and CNS score worsened in one patient, fluctuated in another, and improved in the sixth patient. In the whole series, there were 15 WML at baseline, and 19 at the 24 th month. In two years, 4 lesions disappeared, whereas 8 appeared. Conclusion: A widespread pattern of silent WML in FD was seen. In two years, some WML appeared, and some disappeared. If these phenomena were related to the natural history, remains to be demonstrated.KEY WORDS: Fabry disease, enzyme-replacement therapy, magnetic resonance imaging, alpha-galactosidase A, white matter lesion.Lesões da substância branca na doença de Fabry antes e depois da terapia de reposição enzimática : um seguimento de 2 anos RESUMO -Objetivo: Relatar os achados neurológicos e de imagem do sistema nervoso central (SNC), observados durante 24 meses de tratamento de reposição enzimática (ERT) com agalsidase-alfa, em pacientes com a doença de Fabry (FD). Método: 8 pacientes foram incluídos; 6 completaram 24 meses de ERT. Os dados foram obtidos aos 0, 12 e 24 meses de ERT. Lesões de substância branca (WML) foram avaliadas assim como sua relação com a idade e o exame neurológico (escore SNC). Resultados: Os achados de ressonân-cia nuclear magnética foram estáveis em 3 pacientes. As WML e o escore SNC pioraram em um caso; flutuaram em um outro caso; e melhoraram no sexto paciente. No todo, havia 15 WML antes da ERT e 19 WML depois de 24 meses de ERT. Em dois anos, 4 lesões desapareceram e 8 novas surgiram. Conclusões: Viu-se um padrão difuso de WML assintomáticas, na FD. Em dois anos, algumas WML surgiram, enquanto outras desapareceram. Resta demonstrar se esses fenômenos fazem parte da história natural da doença. PALAVRAS-CHAVE: doença de Fabry, terapia de reposição enzimática, ressonância nuclear magnética, alfagalactosidase A, lesões de substância branca.Fabry disease (FD) is an X-linked disorder resulting from a mutation of the α-galactosidase A gene at Xq22. The gene defect causes a very low specific activity of the enzyme α-galactosidase (α-Gal A) (NM_000169), which leads to a progressive lysosomal deposition of globotriaosylceramide (GL-3) in vascular endothelium and smooth muscle cells, myocardium, renal epithelium, and the central nervous sys-

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“…Recently, it is reported that cerebral small artery disease, which is known to be associated with lacunar infarction, white matter lesions (leukoaraiosis) and cerebral hemorrhage, rather than large artery stroke, is frequently observed in Fabry's disease. 5,6,20 These findings suggest that the underlying degeneration of the cerebral small arteries, secondary to the deposition of glycosphingolipids in the vessel wall, could be a strong contributing factor for cerebral hemorrhage in Fabry's disease. Aging is thought to be another important contributing factor, 6 as our patients, especially patients 2 (83 years old) and 3 (74 years old), were elderly compared with average Fabry's patients.…”

Section: Discussionmentioning

confidence: 92%

“…1 Stroke is one of the major complications of Fabry's disease 2 and has been described in X25% of patients. [3][4][5][6] In patients with the classic phenotype, levels of a-Gal A activity are very low or undetectable, and progressive glycosphingolipids accumulation leads to renal, cardiac and cerebrovascular manifestations and early death. 1 On the other hand, patients with substantial levels of residual a-Gal A activity have milder phenotypes, including renal 7 and cardiac 8 variant.…”

Section: Introductionmentioning

confidence: 99%