A retrospective observational study published in the International Journal of Cardiology evaluated a new clinical staging of hypertrophic cardiomyopathy in Fabry disease.
Fabry disease is a lysosomal disorder caused by mutations in the GLA gene. It is characterized by deficient levels of alpha-galactosidase (alpha-GAL) that lead to the accumulation of GL-3. Symptoms of Fabry disease may include episodes of pain, especially in the hands and feet, angiokeratomas, hypohidrosis, corneal opacity, and hearing loss. Internal organs, such as the kidney, heart or brain, may also be affected, leading to progressive kidney damage, heart attacks, and strokes. Hypertrophic cardiomyopathy is also common in these patients.
A new clinical staging for Fabry recently suggested five stages based on imaging characterization of hypertrophic cardiomyopathy and fibrosis: 0A, 0B, IA, IB, II, and III. This retrospective observational study evaluated the applicability of this proposal in patients with Fabry disease by looking at the last imaging cardiac evaluations.
Patients were staged based on left ventricular ejection fraction (LVEF), late gadolinium enhancement (LGE), left ventricular wall thickness, as well as cardiac symptoms and ECG/Echo/CMR abnormalities.
Among the 44 patients that were fully staged, 29.5% were in the non-hypertrophic stage 0. In hypertrophic stage I, 27.2% of patients were classified according to the maximum wall thickness. The hypertrophic stage II included 29.5% of patients. 13.6% of patients in stage III presented diffuse myocardial fibrosis 3 or greater LV segments and/or impaired systolic function, where LVEF is less than 50%.
The proposed staging plan allows for the classification of different stages of cardiomyopathy in Fabry disease and provides steps for use in clinical practice.
For more information, visit https://pubmed.ncbi.nlm.nih.gov/41716719/
To learn more about Fabry disease, visit https://checkrare.com/fabry-disease/