Study finds abnormal blood vessels in Fabry patients’ brains

Ultrasound assessments show thicker walls, other differences

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

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People with Fabry disease commonly have abnormalities in the brain’s blood vessels, such as unusually thick vessel walls or differences in how the vessels respond to changes in oxygen levels in the blood.

That’s according to the study, “Cerebrovascular Phenotype in Fabry Disease Patients Assessed by Ultrasound,” which was published in the Journal of Ultrasound in Medicine.

Fabry disease is a genetic disorder that can affect many organs throughout the body, including the blood vessels. Among the most life-threatening manifestations of Fabry is an increased risk of stroke, which occurs when blood flow into the brain is blocked, causing damage to brain tissue. Exactly why Fabry patients are at risk from stroke isn’t fully clear.

A team of scientists used ultrasound to analyze blood vessel changes in 65 people with Fabry disease. For comparison, the researchers also analyzed vessels in 65 people who didn’t have Fabry but were matched by age and sex. Ultrasound is a common medical technology that uses high-frequency sound waves to image internal bodily structures.

“Although ultrasound is a readily available and commonly used method that allows comprehensive assessment of structural and hemodynamic [blood flow] vascular changes, the literature on global cerebrovascular [brain blood vessel] evaluation in patients with FD [Fabry disease] is scarce,” the researchers noted.

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Abnormal blood vessels, slow blood flow

Results showed that in people with Fabry disease, the walls of certain major brain blood vessels such as the carotid and vertebral arteries were significantly thicker, on average, than in those without the disease. These vessels thicken as a person ages, but Fabry patients tended to have thicker vessels than their similar-aged peers.

Fabry patients also had higher pulsatility index scores, a measure that suggests their blood was moving less quickly through the vessels. The researchers said this could be due to disease involvement making Fabry blood vessels stiffer and less elastic.

The brain normally needs a lot of oxygen to function. When oxygen levels are lower than normal, blood vessels in the brain will rapidly shift to try to bring more oxygen-rich blood to brain tissue, a phenomenon called cerebral vasoreactivity. When study participants were asked to hold their breath, Fabry patients showed substantially more variability in cerebral vasoreactivity than people without the disease.

Collectively, the findings “indicate a complex age-dependent vascular impairment” in the brains of Fabry patients, the researchers wrote. They noted, however, that the study was limited to an analysis of patients at a single center, highlighting a need for further research to validate the findings and explore the potential implications for disease manifestations like stroke.