New Findings Could Assist Monitoring BA Dolichoectasia in Patients with Pompe

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The angle of the superior cerebellar artery outlet can be useful for monitoring the progression of basilar artery dolichoectasia in patients with Pompe, according to results in the Orphanet Journal of Rare Diseases.

The angle of the superior cerebellar artery (SUCA) outlet has shown the potential to be useful for monitoring the progression of dolichoectasia of the basilar artery (BA) in patients with Pompe disease, according to new results published in the Orphanet Journal of Rare Diseases.1

The study, titled, “Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease,” found that, because Pompe disease is associated with BA dilation, the elongation and elevated bifurcation height of the BA could be directly related to symptomatic development. BA dolichoectasia has been known to result in further cerebrovascular complications.

Pompe disease, the result of lysosomal α-glucosidase deficiency, typically leads to glycogen accumulation in skeletal muscle, but can also have a similar effect in the cerebral arteries. Because BA dolichoectasia of the has been frequently reported in late onset Pompe (LOPD) patients, Ole Hensel and colleagues from the Department of Neurology at University hospital Halle/Saale in Germany decided to study the correlation.

Recent work has shown that BA dolichoectasia is the most prominent cerebrovascular finding in LOPD patients, and a preliminary study showed a substantial dilation of vertebrobasilar arteries when compared to controls. However, little remains known about the progression of this arterial remodeling in disease progression.

Throughout the study, BA length, diameter and volume, and cerebral lesions were analyzed by MRI/time of flight (TOF)-MR angiography or computed tomography (CT)/CT angiography in 20 LOPD patients with a genetically and biochemically confirmed diagnosis and 40 controls matching in age, sex- and cardiovascular risk factors. All patients were on enzyme replacement therapy (ERT).

The height of BA bifurcation was measured semi-quantitatively using the Smoker’s criteria and quantitatively by measuring the outlet angle of the SUCA. Nine patients were followed over 5 years.

The height of the BA bifurcation was abnormal in 60% (n=12) of LOPD patients and in 30% (n=12) of matched controls. The SUCA outlet angle was lower in LOPD patients versus controls (127 ± 33° vs. 156 ± 32°, p=0.0024). The diameter, length and volume of the BA were meaningfully increased in LOPD patients versus controls.

White matter lesions presented in 60% (n=12) of LOPD patients and 68% (n=27) of controls. According to the Smoker’s criteria, during the 5 year follow up, 2/9 LOPD patients developed an abnormal height of BA bifurcation. In all patients, the SUCA outlet angle decreased (138 ± 34° vs. 128 ± 32°, p=0.019).

There was no gender difference in BA diameter, anatomic length, linear length, volume or SUCA outlet angle in LOPD patients or controls, and 1 patient with prominent basilar dolichoectasia experienced a thalamic hemorrhage.

“[Results] suggest that LOPD acts as an independent risk factor for basilar dolichoectasia,” the study authors concluded. “The study demonstrates a decreasing SUCA outlet angle as surrogate marker for a progressive elevation of the BA bifurcation in the disease course of LOPD during a 5-year observation period. The SUCA outlet angle seems to be useful for detection of progression of vertebrobasilar dolichoectasia.”

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References:

1. Hensel O, et al. Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease. Orphanet Journal of Rare Diseases. 2018;13:57. doi: 10.1186/s13023-018-0794-6.

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