Awareness of Fabry disease in cardiology: A gap to be filled

Area of Science:

• Cardiology
• Genetics
• Rare Diseases

Background:

• Unexplained left ventricular hypertrophy (LVH) in adults is often sarcomeric hypertrophic cardiomyopathy (HCM).
• Fabry disease (FD) is a rare genetic condition that can mimic HCM and has poor prognosis without treatment.
• Assessing cardiologists' awareness of FD is vital for timely diagnosis and management in HCM patients.

Purpose of the Study:

• To evaluate the awareness and diagnostic practices of cardiologists regarding Fabry disease (FD) in patients with hypertrophic cardiomyopathy (HCM) in Portugal.
• To identify potential red flags for FD and assess the rate of specific diagnostic testing in HCM patients.
• To determine the prevalence of FD among patients initially diagnosed with HCM.

Main Methods:

• Analysis of data from 811 index patients in the Portuguese Registry of Hypertrophic Cardiomyopathy.
• Categorization of patients into three groups based on genetic testing for sarcomeric genes and performance of genetic testing for FD.
• Comparison of FD exclusion rates, diagnostic testing (GLA gene testing, alpha-galactosidase A activity), and red flag identification across groups.

Main Results:

• FD was recorded as excluded in 26.8% of patients, with similar rates across genetic testing groups.
• Specific FD testing (GLA gene or enzyme activity) was performed in only 18% of patients with potential red flags.
• When GLA genotyping was performed, no FD-causing mutations were identified, suggesting potential underdiagnosis or misdiagnosis.

Conclusions:

• There is a significant need to enhance cardiologists' alertness for identifying Fabry disease in the hypertrophic cardiomyopathy population in Portugal.
• Current diagnostic approaches for FD in HCM patients appear insufficient, highlighting a gap in awareness and testing protocols.
• Improved screening and diagnostic strategies are necessary to ensure timely detection and treatment of FD in at-risk individuals.