Purpose: Cerebro-vascular arteriopathy has been reported in late-onset Pompe disease (LOPD). Evidence of increased aortic stiffness in some patients and smooth muscle involvement in LOPD raises the possibility of aortic involvement. Our aim was to determine if aortic arteriopathy may be a complication of LOPD.
Methods: One patient with LOPD was diagnosed with aortic dilatation at Duke Metabolic clinic, 4 others were diagnosed at University of Mainz, Germany, where chest X-ray and echocardiography are routinely done for patients. Other causes of aortic vascular disease were assessed.
Results: We report evidence of dilated arteriopathy involving primarily the ascending thoracic aorta in 5 females with late-onset Pompe disease. One patient had a bicuspid aortic valve and developed dissection. Another patient with juvenile onset disease had both thoracic and basilar artery aneurysms.
Conclusions: Aneurysmal dilatation of the thoracic aorta is an underreported vascular complication of LOPD, probably due to the same pathological process that occurs in the brain. Chest X-ray together with echocardiography should be incorporated as initial screening tools for aortic aneurysms in patients with LOPD. When ectasia is suspected, or the ascending aorta is not visualized, contrast- mediated thoracic CT or MRA may be necessary. Large-scale studies are warranted to determine the prevalence and extent of aortic vascular involvement.
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http://dx.doi.org/10.1016/j.ymgme.2011.04.009 | DOI Listing |
J Health Econ Outcomes Res
January 2025
Australian Pompe Association, Sydney, Australia.
Late-onset Pompe disease (LOPD) is a rare, autosomal recessive metabolic disorder that is heterogeneous in disease presentation and progression. People with LOPD report a significantly lower physical, psychological, and social quality of life (QoL) than the general population. This study investigated how individuals' self-reported LOPD status (improving, stable, declining) relates to their QoL.
View Article and Find Full Text PDFSemin Respir Crit Care Med
December 2024
Department of Neurology and Rehabilitation Medicine, University of Cincinnati, Cincinnati, Ohio.
Neuromuscular disorders can cause respiratory impairment by affecting the muscle fibers, neuromuscular junction, or innervation of respiratory muscles, leading to significant morbidity and mortality. Over the past few years, new disease-modifying therapies have been developed and made available for treating different neuromuscular disorders. Some of these therapies have remarkable effectiveness, resulting in the prevention and reduction of respiratory complications.
View Article and Find Full Text PDFFront Genet
November 2024
Sanofi Global Medical Affairs Rare Diseases, Sanofi, Cambridge, MA, United States.
Cureus
November 2024
Rare Diseases, Rare Diseases Community (RDCom), Buenos Aires, ARG.
Pompe disease (PD) is a rare progressive autosomal recessive disorder resulting from the deficiency of acid alpha-glucosidase (GAA) enzyme activity. Due to its multisystemic involvement, PD leads to significant morbidity and impacts patients' quality of life. Despite the availability of approved disease-modifying treatments, the prompt diagnosis and management of PD, which are crucial for patient outcomes, still present several challenges.
View Article and Find Full Text PDFCPT Pharmacometrics Syst Pharmacol
December 2024
Sanofi, Cambridge, Massachusetts, USA.
Infantile-onset Pompe disease (IOPD) is a rare, deadly, quickly-progressing degenerative disease. Even with life-sustaining treatment (e.g.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!