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Welcome back to our free evidence-based Nursing Reference Center Update. We will periodically send news on the latest evidence in nursing. Please share this with your colleagues, students, practitioners and others who would appreciate awareness of this information. 

Fabry disease (FD; also called Anderson-Fabry disease and angiokeratoma corporis diffusum) is a rare X-linked multisystem lysosomal storage disorder characterized by deficiency of the lysosomal enzyme α-galactosidase (α-Gal A). The resulting gradual accumulation of glycosphingolipids throughout the body-particularly in vascular endothelial, renal, neural, and cardiac cells-causes organ failure and premature death, primarily due to renal failure, stroke, and sudden cardiac death (SCD).

 

FD is caused by a mutation in the GLA gene on the X chromosome. Classic FD is characterized by α-Gal A activity < 1% of normal with childhood onset and multisystem involvement. Patients with atypical forms of FD have residual α-Gal A activity, later onset, and less severe clinical manifestations that are generally limited to one organ (e.g., heart, kidneys).

 

Cardiovascular manifestations of both classic and atypical FD stem from lipid deposition in cardiomyocytes, conduction system cells, endothelium, and valvular fibroblasts and smooth muscle cells, and include cardiac conduction anomalies, left ventricular hypertrophy, mitral insufficiency, and ischemic heart disease. Right ventricular hypertrophy and changes in right ventricular function are related to the extent of left ventricular hypertrophy. In addition, FD is associated with high risk for thrombotic events (e.g., myocardial infarction [MI], stroke). Cardiac complications are a frequent cause of death in patients with FD.

 

Treatment consists of pharmacotherapy for symptomatic relief and prevention of complications. Enzyme replacement therapy with agalsidase alfa and beta is now available, and it can improve some cardiac manifestations if started early in the disease process. Hypertension, arrhythmias, and heart failure are treated with standard therapies.

 

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Recently, the evidence-based care sheet "Intimate Partner Violence: Emergency Department" was revised following review under the systematic literature surveillance program. Information of value to nursing practice regarding intimate partner violence in the emergency department was the U.S. Preventative Task Force Recommendation Statement.