INTRODUCING
Fabry disease is a lysosomal storage disorder caused by variants in the GLA gene and is a progressive, life-threatening, multisystemic condition.
Characterisation of patients with classical versus late-onset Fabry disease: a retrospective study
Published in 2017, data from a retrospective study of 541 patients from Germany, the UK and The Netherlands with classical or late-onset Fabry disease were used to describe the natural course of the disease based on gender and phenotype. The majority of patients included in the study were adults (n=499); 42 patients were aged <18 years.1
In both males and females, the mean (standard deviation) age at first visit to the referral centre was younger for patients with classical versus late-onset Fabry disease (males, 38.4 [10.8] vs 55.4 [13.1] years; females, 41.5 [13.5] vs 43.7 [15.0] years]). The median age of paediatric patients enrolled in the study was 16.1 years (range, 5‒18 years). The proportion of paediatric patients with classical Fabry disease was higher for both males (n=16) and females (n=15) compared with late-onset disease (males, n=4; females, n=7). In this cohort of paediatric patients, no cardiac, renal or cerebral events had occurred prior to first visit to the referral centre.1
The occurrence of cardiac, renal and cerebral events differed between male and female adult patients with classical and late-onset Fabry disease. Male patients with classical Fabry disease were more likely to experience any of these events versus males with late-onset Fabry disease (hazard ratio [HR] 5.63 [95% confidence interval (CI) 3.17‒10.0]; p<0.001). Similarly, women with classical versus late-onset Fabry disease were more likely to experience any cardiac, renal or cerebral event (HR 2.88 [95% CI 1.54‒5.4]; p<0.001). A higher proportion of male patients with late-onset Fabry disease (28.8%) experienced a cardiac event before first visit to the referral centre, followed by males (11.6%) and females (7.5%) with classical Fabry disease, and females with late-onset Fabry disease (6.1%). A renal event before first visit was more common in males with classical Fabry disease (8.7%) followed by males with late-onset (3.0%), females with classical (1.4%) and females with late-onset (0.7%) Fabry disease. The proportion of male and female patients with classical Fabry disease experiencing a cerebral event before first visit was equal (10.9% each), followed by males and females with late-onset Fabry disease (7.0% and 4.1%, respectively).1
Male adult patients with classical Fabry disease were significantly more likely to experience cardiac, renal and cerebral events compared with males with late-onset Fabry disease1:
Cerebral events were only more likely in female adult patients with classical compared with late-onset Fabry disease (HR 3.51 [95% CI 1.36‒9.06]; p<0.01), whereas the likelihood of cardiac (HR 2.34 [95% CI 0.95‒5.76]; p>0.05) or renal (HR 2.27 [95% CI 0.21‒25.13]; p>0.05) events was not significantly different between females with either disease phenotype.1
The findings from this study highlight that the disease course is different between patients with classical and late-onset Fabry disease, and varies depending upon gender. Male patients with classical Fabry disease have a much higher risk for experiencing cardiac, renal and cerebral events than males with late-onset Fabry disease or females with either disease phenotype.1
C-ANPROM/INT/FAB/0015; Date of preparation: March 2021
Brochure
Due to the high prevalence of cardiac involvement in patients with Fabry disease, cardiologists are vital in the screening and diagnosis of the disease. Cardiologists are recommended to maintain an awareness of Fabry disease.
Brochure
Neurologists can aid an early diagnosis of Fabry disease and document neurological involvement associated with the disease.
BURDEN OF DISEASE
What is classical Fabry disease?
The initial signs of classical Fabry disease are typically exhibited in childhood. Variants in the GLA gene leading to little or no enzymatic activity of alpha-galactosidase A (α-Gal A) are associated with this disease phenotype.
Burden of disease
What is late-onset Fabry disease?
The clinical manifestations of late-onset Fabry disease are variable and may be limited to only one organ. Variants in the GLA gene resulting in residual alpha-galactosidase A (α-Gal A) are associated with this disease phenotype.
BURDEN OF DISEASE
What is Fabry disease?
Fabry disease is an X-linked genetic disorder caused by variants in the GLA gene encoding the lysosomal enzyme α-Gal A.
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