Fabry Disease in Elderly Patients with Unexplained Renal Failure and Left Ventricular Hypertrophy? Two Case Reports

Fabry disease is a rare inherited disease whose incidence is likely underestimated.The heterogeneous symptoms, atypical variants and multiple comorbidities of this disease make early diagnosis challenging.We presented two elderly patients who visited our clinic for impaired renal function and proteinuria which are easily regarded as complications of underlying diseases.Both had left ventricular hypertrophy and were ultimately diagnosed with later-onset Fabry disease.Both patients received enzyme replacement therapy thereafter and follow-up data showed improvements in disease severity and ventricular hypertrophy but still showed deteriorated renal function.Early diagnosis of Fabry disease may provide beneficial effects before irreversible changes occur in organs and improve patient quality of life.It is important to consider the diagnosis of Fabry disease when patients have renal failure and left ventricular hypertrophy, even in elderly patients with multiple comorbidities.

Publication Details

Journal
Annals of Case Reports
Published
2024-11-04
DOI
https://doi.org/10.29011/2574-7754.102043
Primary Topic
Lysosomal Storage Disorders Research
Type
article
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article

Fabry Disease in Elderly Patients with Unexplained Renal Failure and Left Ventricular Hypertrophy? Two Case Reports

Annals of Case Reports
Lysosomal Storage Disorders Research
article

Fabry Disease in Elderly Patients with Unexplained Renal Failure and Left Ventricular Hypertrophy? Two Case Reports

article en

Abstract

Fabry disease is a rare inherited disease whose incidence is likely underestimated.The heterogeneous symptoms, atypical variants and multiple comorbidities of this disease make early diagnosis challenging.We presented two elderly patients who visited our clinic for impaired renal function and proteinuria which are easily regarded as complications of underlying diseases.Both had left ventricular hypertrophy and were ultimately diagnosed with later-onset Fabry disease.Both patients received enzyme replacement therapy thereafter and follow-up data showed improvements in disease severity and ventricular hypertrophy but still showed deteriorated renal function.Early diagnosis of Fabry disease may provide beneficial effects before irreversible changes occur in organs and improve patient quality of life.It is important to consider the diagnosis of Fabry disease when patients have renal failure and left ventricular hypertrophy, even in elderly patients with multiple comorbidities.

Annals of Case ReportsVol. 9(5)
Openalex Percentile: Top 70%
Lysosomal Storage Disorders Research
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