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

Year: 2024

Type: article

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.

Source: Annals of Case Reports

DOI: 10.29011/2574-7754.102043

Authors: Yi-Zhen Lu, Chih-Jen Wu, Hong-Mou Shih, Feng-Chi Kuo, Cheng-Jui Lin

Institutions: Mackay Memorial Hospital, Mackay Medical University, Institute of Medical Sciences, China Medical University, China Medical University Hospital

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4404543489