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[Prevalence of Fabry disease in patients with left ventricular hypertrophy and renal involvement (PrEFaCe)]
Cristina García Sebastián1, Vicente Climent Payá2, Juan Carlos Castillo3
1Servicio de Cardiología, Hospital Universitario Ramón y Cajal, Madrid, España; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid, España.
Insights
Fabry disease (FD) affects 0.33% of patients with left ventricular hypertrophy and chronic kidney disease. Genetic testing is crucial for accurate FD diagnosis, especially in women, supporting its inclusion in differential diagnoses.
Area of Science:
- Cardiology
- Nephrology
- Genetics
Background:
- Fabry disease (FD) involves glycosphingolipid accumulation, primarily affecting cardiac and renal systems.
- The prevalence of FD in patients with co-occurring cardiac and renal disease is not well-established.
- Left ventricular hypertrophy (LVH) and chronic kidney disease (CKD) are common manifestations.
Purpose of the Study:
- To determine the prevalence of Fabry disease (FD) in patients presenting with left ventricular hypertrophy (LVH) and any stage of chronic kidney disease (CKD).
Main Methods:
- A cohort of 898 patients with LVH (ventricular thickness ≥13mm) and CKD from 29 Spanish hospitals were analyzed.
- Data collected included sociodemographics and FD target organ involvement.
- Enzymatic activity tests and genetic testing (GLA gene) were performed for diagnosis.
Main Results:
- A prevalence of 0.33% (CI 95% 0.06-1%) for FD was identified in the study population (3 patients diagnosed).
- Two of the diagnosed patients were male and one was female, all with pathogenic GLA gene variants and classic FD signs.
- Six patients (0.66%) had variants of unknown significance, and 13 (3.2%) could not complete testing.
Conclusions:
- Fabry disease is a significant, underrecognized cause of LVH and CKD.
- Accurate genetic diagnosis is essential for identifying FD, particularly in women.
- FD should be considered in the differential diagnosis for patients with LVH and CKD.
Introduction And Aims:
Fabry disease (FD) causes glycosphingolipid accumulation in the vascular endothelium, with predominantly cardiac and renal involvement. Its prevalence in patients with concomitant involvement of these two organs is unknown. The objective of the study was to determine the prevalence of FD in patients with left ventricular hypertrophy and any degree of chronic kidney disease.
Patients And Methods:
Patients with ventricular thickness ≥13mm and kidney disease from 29 Spanish hospitals were included. Sociodemographic variables and target organ involvement of FD were collected. Laboratory determinations of EF were carried out, with an enzymatic activity test±genetic test in men and direct genetic test in women.
Results:
Eight hundred ninety-eight patients with left ventricular hypertrophy and chronic kidney disease were included. The presence of heart failure and cardiorenal syndrome was common (46.1% and 40.1%). Three patients (2 men and 1 woman) were diagnosed with FD, based on the presence of a pathogenic variant in the GLA gene and classic signs of FD, resulting in a prevalence of 0.33% (CI 95% 0.06-1%). Six patients (0.66%) presented genetic variants of unknown significance, without showing classic signs of FD, while in 13 patients (3.2%) performing the blood test was impossible.
Conclusions:
FD is an important cause of left ventricular hypertrophy and chronic kidney disease. Genetic diagnosis is crucial for avoiding biases and ensuring accurate identification of FD, especially in women. The results support the inclusion of this disease in the differential diagnosis of patients with ventricular hypertrophy ≥13mm and chronic kidney disease.
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