Screening for Fabry disease in patients on Hemodialysis

Fabry Disease Screening in Haemodialysis Patients: A Critical Initiative

Fabry disease is a rare X-linked lysosomal storage disorder, characterised by the accumulation of trihexosylceramides, which can lead to significant organ damage, including progressive renal failure. It commonly affects vital organs like the kidneys, heart and skin, with symptoms beginning as early as childhood or early adulthood. 

Key symptoms of Fabry disease include:^1,2

• Acroparesthesia: Chronic pain (especially in the hands and feet)
• Angiokeratoma: Skin rashes (often go unnoticed)
• Renal impairment: Kidney failure (most critical symptom)
• Cerebrovascular manifestations: Stroke or transient ischaemic attack (most commonly observed)
• Cardiomyopathy: Left ventricular hypertrophy and conduction disorders (e.g. atrial fibrillation, ventricular and supraventricular tachycardia, valve dysfunction, etc.)

As renal failure is a serious consequence, screening for Fabry disease in haemodialysis patients, especially with unknown diagnosis, becomes crucial. Early identification of the disease could significantly aid treatment strategies, preventing further organ damage and improving patient outcomes. 

Previous screening studies across the globe have reported inconsistent prevalence rates of Fabry disease in the haemodialysis population (0.2–1.2%, as per few studies). In their recent study, Batta et al.¹ emphasised the critical importance of early screening and detection of Fabry disease, particularly in patients undergoing haemodialysis, offering renewed hope for timely intervention and improved care. 

The study advocates for the implementation of routine screening protocols for Fabry disease in dialysis centres, noting the high risk of misdiagnosis and underdiagnosis in renal patients. The findings highlight the significant impact that early intervention can have on enhancing patient outcomes and slowing disease progression.

Click here to access the study and learn more.