Eye vessel abnormalities may signal heart disease in Fabry patients
Study: Anti-inflammatory therapies could help in those with certain mutations
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People with Fabry disease have abnormalities in the blood vessels within the eye, and these abnormalities may be indicative of heart disease in Fabry patients, a first-of-its-kind study reports.
Researchers also found an association between eye vessel abnormalities and more inflammation in people with certain Fabry-causing mutations that are associated with heart disease. The scientists said this finding suggests anti-inflammatory therapies may be beneficial in these patients, though further research is needed.
The study, “Endothelial dysfunction in Fabry disease: retinal biomarkers link cardiac GLA gene variants with chronic inflammation,” was published in npj Genomic Medicine.
 Fabry disease patients exhibited several eye blood vessel abnormalities
Fabry disease is a genetic disorder marked by a deficiency of an enzyme needed to break down certain fatty molecules, leading to their buildup to toxic levels and organ damage. Fabry often impacts the heart, and heart disease is a leading cause of death for Fabry patients.
Heart damage in Fabry is thought to occur mainly because the disease causes problems with small blood vessels throughout the body. Because of this, testing small vessel health can provide a window into a patient’s heart.
One way to evaluate the health of small vessels is retinal vessel analysis, a noninvasive procedure in which doctors examine the small blood vessels in the retina, the part of the eye that houses cells that sense light. In this study, scientists used this type of analysis to evaluate 63 people with Fabry disease. A group of 60 people without the disease, matched based on factors like age and sex, was also evaluated as controls.
Results indicated that Fabry patients exhibited several abnormalities in their eye blood vessels: their vessels tended to be abnormally narrow, and the ratio of arteries to veins was lower in Fabry patients. Additionally, venular flicker-induced dilation — a reflex where blood vessels in the eye widen in response to a flash of light — was significantly slower in Fabry patients.
“For the first time we could now show an altered retinal microcirculation in [Fabry disease] patients, as evidenced by significantly reduced flickering-induced venular dilatation, retinal [blood vessel] narrowing, and smaller [artery-vein ratio],” the researchers wrote. “Importantly, these microvascular differences were independent of age, gender, and [cardiovascular] risk factors.”
Further analyses showed statistical correlations between these blood vessel abnormalities and measures of heart disease. For example, Fabry patients with narrower blood vessels in their eyes were more likely to have certain signs of heart damage, such as heart valve problems or enlargement (hypertrophy) of the left ventricle, the part of the heart that pumps oxygen-rich blood to the body.
The researchers also noted that a few specific Fabry-causing mutations were commonly associated with both heart disease and narrowed vessels in the eye. In patients with these mutations, the researchers found that individuals with more blood vessel abnormalities tended to have higher levels of certain inflammatory markers. This finding implies that anti-inflammatory therapies may help limit blood vessel damage in these patients, the researchers noted, and they called for further studies to test this idea.
