Combined Heart and Kidney Transplantation in a Patient with Fabry Disease in the Enzyme Replacement Therapy Era

Karras, A.; Lentdecker, P. De; Delahousse, Michel; Debauchez, Matthieu; Tricot, L.; Pastural, Myriam; Bruneval, Patrick; Zemoura, L.; Huyen, J.P. Duong Van; Lidove, Olivier

doi:10.1111/j.1600-6143.2008.02245.x

Cited by 18 publications

(10 citation statements)

References 17 publications

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“…There were four CRs which reported an increase in LVH/LVMi with agalsidase alfa after 12 months [61], 6 years [64], 9 years [57], and 12 years [60]. Another CR described stabilization of LVMi, indicated by absence of progression to LVH, in one patient treated with agalsidase alfa [59] and in another who switched regimens (from agalsidase alfa to agalsidase beta and back to agalsidase alfa) [84].…”

Section: Resultsmentioning

confidence: 99%

“…In contrast, three other OS publications did not report statistically significant changes in pain scores (in 11 patients followed for 25–73 months [53], in 172 patients followed for 48 months in a registry study [48], and in five patients followed for ≤12 months [55]) (Supplementary Table 16). Most of the CRs of agalsidase alfa also described improvements in neuropathic pain/acroparaesthesiae or pain scores [58,[60], [61], [62],64].…”

Section: Resultsmentioning

confidence: 99%

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The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

Germain

Elliott

Falissard

et al. 2019

Molecular Genetics and Metabolism Reports

148

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BackgroundEnzyme replacement therapy (ERT) with recombinant human α-galactosidase has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the USA. Treatment outcomes with ERT are dependent on baseline patient characteristics, and published data are derived from heterogeneous study populations.MethodsWe conducted a comprehensive systematic literature review of all original articles on ERT in the treatment of Fabry disease published up until January 2017. This article presents the findings in adult male patients.ResultsClinical evidence for the efficacy of ERT in adult male patients was available from 166 publications including 36 clinical trial publications. ERT significantly decreases globotriaosylceramide levels in plasma, urine, and in different kidney, heart, and skin cell types, slows the decline in estimated glomerular filtration rate, and reduces/stabilizes left ventricular mass and cardiac wall thickness. ERT also improves nervous system, gastrointestinal, pain, and quality of life outcomes.ConclusionsERT is a disease-specific treatment for patients with Fabry disease that may provide clinical benefits on several outcomes and organ systems. Better outcomes may be observed when treatment is started at an early age prior to the development of organ damage such as chronic kidney disease or cardiac fibrosis. Consolidated evidence suggests a dose effect. Data described in male patients, together with female and paediatric data, informs clinical practice and therapeutic goals for individualized treatment.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

Germain

Elliott

Falissard

et al. 2019

Molecular Genetics and Metabolism Reports

148

View full text Add to dashboard Cite

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“…Renal transplantation has proven beneficial; however, recurrence of the disease in the transplant may occur [7]. Despite the fact that development of hypertrophic cardiomyopathy is considered a typical pathology and cardiac events are a leading cause of death in Fabry disease, heart failure necessitating transplantation is less frequent [6, 8]. Here, we report a patient who received a single lung transplant and later was diagnosed to suffer from Fabry disease.…”

Section: Introductionmentioning

confidence: 99%

A Single Lung Transplant in a Patient with Fabry Disease: Causality or Far-Fetched? A Case Report

Gaggl

Kain²,

Jaksch³

et al. 2013

Case Reports in Transplantation

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Introduction. Fabry disease is a rare X-linked lysosomal storage disorder, characterized by an α-galactosidase A deficiency resulting in globotriaosylceramide storage within cells. Subsequently, various organ systems are involved, clinically the most important are kidneys, the heart, and the peripheral and central nervous systems. Although obstructive lung disease is a common pathological finding in Fabry disease, pulmonary involvement is a clinically disregarded feature. Case Presentation. We report a patient with a diagnosis of chronic obstructive pulmonary disease (COPD) who received a single lung transplant in 2007. Later, a kidney biopsy revealed the diagnosis of Fabry disease, which was confirmed by enzymatic and genetic testing. Ultrastructural changes in a native lung biopsy were consistent with the diagnosis. Although the association of a lung transplant and Fabry disease appears far-fetched on first sight, respiratory impairment cannot be denied in Fabry disease. Conclusion. With this case presentation, we would like to stimulate discussion about rare differential diagnoses hidden beneath widespread disease and that a correct diagnosis is the base of an optimal treatment strategy for each patient. Overall, the patient might have benefited from specific enzyme replacement therapy, especially in view of the chronic kidney disease.

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“…The aim of this retrospective observational study was to review differential diagnoses received by patients with FD prior to their diagnosis, and examine the delay in diagnosing these patients. In addition, we present four illustrative case reports, some of which have been presented previously as case reports or part of a cohort of patients with FD (16–20). Our overall objective was to raise the awareness of FD as a disease that can appear similar to several other diseases, and to improve the ordering of diagnostic tests in order to reduce diagnostic delay, as treatment is readily available.…”

Section: Introductionmentioning

confidence: 99%

Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD)

Lidove¹,

Kaminsky²,

Hachulla³

et al. 2011

Clinical Genetics

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Fabry disease (FD) is an X-linked lysosomal storage disorder due to α-galactosidase A deficiency. It is associated with a broad range of clinical symptoms, resulting in frequent misdiagnosis and diagnostic delay, which may impact on patient outcomes. This retrospective observational study of 58 FD patients referred to 10 internal medicine departments in France aimed to review differential diagnoses received prior to diagnosis and examines diagnostic delay. The average age at the time of diagnosis was 27.6 years (range: 10-60) and 42.2 years (range: 9-77) among the 23 males and 35 females analyzed, respectively. Most common symptoms that led to FD diagnosis were family history of FD (12 males and 27 females), followed by pain in extremities (10 males and 5 females), and angiokeratoma (8 males and 4 females). Eighteen patients had received alternative diagnoses prior to FD diagnosis, including a female patient with four previous diagnoses. Four case reports are presented, which illustrate the diagnostic 'odyssey' and delayed diagnosis often experienced by patients. Clinicians should consider a diagnosis of FD when presented with a wide range of symptoms, thus helping to shorten the diagnostic delay and facilitating early therapy with enzyme replacement therapy to improve patient outcomes.

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Combined Heart and Kidney Transplantation in a Patient with Fabry Disease in the Enzyme Replacement Therapy Era

Cited by 18 publications

References 17 publications

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

A Single Lung Transplant in a Patient with Fabry Disease: Causality or Far-Fetched? A Case Report

Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD)

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