Cardiac manifestations of Fabry disease: are women getting enough attention?

Area of Science:

• Cardiology
• Genetics
• Metabolic Disorders

Background:

• Cardiomyopathy diagnosis necessitates investigating genetic or acquired causes, which may present with extracardiac signs.
• Fabry Disease (FD) is an inherited metabolic disorder characterized by left ventricular hypertrophy and various cardiac manifestations.
• FD's X-linked inheritance pattern led to the misconception that it exclusively affects males.

Purpose of the Study:

• To highlight the importance of considering Fabry Disease in the differential diagnosis of cardiomyopathy.
• To describe the varied clinical presentations of Fabry Disease in women.
• To emphasize that women can develop Fabry Disease, often with distinct and delayed symptom onset.

Main Methods:

• Systematic review of literature on Fabry Disease and cardiomyopathy.
• Analysis of clinical data from male and female FD patients.
• Review of diagnostic criteria and genetic testing protocols for FD.

Main Results:

• Fabry Disease is a significant cause of inherited left ventricular hypertrophy.
• Women with FD may exhibit less severe cardiac symptoms, later disease onset, or atypical phenotypes compared to men.
• Extracardiac manifestations can be present in both sexes.

Conclusions:

• A comprehensive etiological workup for cardiomyopathy should include screening for Fabry Disease in all affected individuals, regardless of sex.
• Recognizing the diverse presentation of FD in women is crucial for timely diagnosis and management.
• Early identification of Fabry Disease can lead to improved patient outcomes and targeted therapies.