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Arterial wall properties and Womersley flow in Fabry disease
David F Moore1, Gheona Altarescu, Randall Pursley
1Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA. dfm1@helix.nih.gov
Insights
Fabry disease does not show structural or mechanical arterial abnormalities in fibro-muscular arteries. Functional issues downstream of these vessels likely drive Fabry vasculopathy, impacting blood flow.
Area of Science:
- Vascular Biology
- Medical Genetics
- Cardiovascular Research
Background:
- Fabry disease is an X-linked lysosomal storage disorder causing globotriaosylceramide accumulation.
- It is characterized by arterial ectasia and potential functional abnormalities in resistance vessels.
- Previous studies suggest enhanced endothelium-dependent vasodilation in Fabry disease.
Purpose of the Study:
- To investigate the mechanical properties of the radial artery in Fabry disease.
- To determine if structural or mechanical changes occur in fibro-muscular arteries in Fabry disease.
Main Methods:
- Examined radial artery mechanical properties in seven Fabry patients and eight controls.
- Used intra-arterial blood pressure monitoring and real-time ultrasound.
- Calculated vessel dimensions, Young's modulus, wall thickness, pulse wave speed, and blood flow.
Main Results:
- No significant differences were found in arterial diameters, Young's modulus, wall thickness, pulse wave speed, or basal blood flow between groups.
- Acetylcholine and sodium nitroprusside increased radial artery blood flow in both patients and controls.
Conclusions:
- Fibro-muscular arteries in Fabry disease appear structurally and mechanically normal.
- Functional abnormalities downstream of conductance vessels may be the primary driver of Fabry vasculopathy.
Background:
Fabry disease is an X-linked recessive lysosomal storage disease resulting in the cellular accumulation of globotriaosylceramide particularly globotriaosylceramide. The disease is characterized by a dilated vasculopathy with arterial ectasia in muscular arteries and arterioles. Previous venous plethysomographic studies suggest enhanced endothelium-dependent vasodilation in Fabry disease indicating a functional abnormality of resistance vessels.
Methods:
We examined the mechanical properties of the radial artery in Fabry disease, a typical fibro-muscular artery. Eight control subjects and seven patients with Fabry disease had a right brachial arterial line placed allowing real time recording of intra-arterial blood pressure. Real time B-mode ultrasound recordings of the right radial artery were obtained simultaneously allowing calculation of the vessel wall internal and external diameter, the incremental Young's modulus and arterial wall thickness. By simultaneously measurement of the distal index finger-pulse oximetry the pulse wave speed was calculated. From the wave speed and the internal radial artery diameter the volume flow was calculated by Womersley analysis following truncation of the late diastolic phase.
Results:
No significant difference was found between Fabry patients and controls for internal or external arterial diameters, the incremental Young's modulus, the arterial wall thickness, the pulse wave speed and the basal radial artery blood flow. Further, no significant difference was found for the radial artery blood flow in response to intra-arterial acetylcholine or sodium nitroprusside. Both drugs however, elevated the mean arterial flow.
Conclusions:
The current study suggests that no structural or mechanical abnormality exists in the vessel wall of fibro-muscular arteries in Fabry disease. This may indicate that a functional abnormality downstream to the conductance vessels is the dominant feature in development Fabry vasculopathy.