Résumé :
|
Background: Animal models and histopathological findings show glycogen accumulation and vacuolation in smooth muscles of the vessels in glycogenosis type II (Pompe disease). Several case reports had described cerebrovascular complications due to dilatative arteriopathy in the cerebral vessels mostly in the basilar artery (BA). A previous study using magnetic resonance angiography (MRA) found a dolichobasilaris in 4/6 patients with adult Pompe patients suggesting a high frequency of dilatative arteriopathy in late-onset Pompe patients (Sacconi et al. J Neurol 2010; 257: 1730-33). No data about vascular risk factors and the body weight under ERT are available. Patients and methods: Eight patients with genetically confirmed late-onset Pompe disease receiving enzyme replacement therapy (ERT) in our institution were analysed according to cerebrovascular risk factors and body mass index (BMI) under ERT. They underwent extracranial and transcranial duplex sonography, measurement of the cerebrovascular reserve capacity by transcranial Doppler sonography after application of intravenous acetazolamide, and magnetic resonance angiography (MRA) of the cerebral vessels. Muscle biopsy performed before the beginning of ERT was screened for changes in the smooth muscle and endothelium of vessels by light and electron microscopy. Results: In 10 ambulant patients (n=4 female, n=male, mean age: 48 years, mean duration of ERT: 33.5 months) the mean BMI was 28 (range: 18-36). The mean weight gain after 12 months of ERT was 5.1 kg (range: 1-16). However, 4/8 complained about persisting gastrointestinal signs (urge incontinence) not resuming under ERT. Apart from obesity (n=5), 3 patients had diabetes, 6 had arterial hypertension and 6 had hypercholesterinemia. Duplex sonography (n=8) showed thickened intima-media-complex in 3 patients and BA stenosis in 1. The cerebrovascular reserve capacity (n=2) was decreased in one (5%, normal range: >20) and normal in another patient (49%). Light microscopy showed glycogen accumulation in smooth muscle cells, but not endothelial cells in 5/5 biopsies.Conclusion: The present study confirms the high frequency of involvement of the smooth vascular muscles. The weight gain under ERT is known from other storage disorders and needs to be confirmed in a larger cohort as well as the high frequency of cerebrovascular risk factors in adult-onset Pompe disease.
|