Problems with brain’s blood vessels found common in LOPD: Study
Routine brain imaging recommended for adult patients
Damage to the blood vessels in the brain is a common but under-recognized manifestation of late-onset Pompe disease (LOPD), according to a recent study from China.
Among a small group of LOPD patients, various abnormalities were observed that affected both small and large blood vessels.
Given the observed prevalence of brain involvement in LOPD, “a series of [brain] imaging evaluations … is recommended for adult LOPD patients,” researchers wrote.
The study, “Intracranial vasculopathy: an important organ damage in young adult patients with late-onset Pompe disease,” was published in the Orphanet Journal of Rare Diseases.
Pompe affects skeletal, heart, respiratory muscles
Pompe disease is characterized by the toxic accumulation of glycogen, a large sugar molecule inside cells, affecting the function of the body’s tissues. Muscle tissue, including the skeletal, heart, and respiratory muscles, are particularly affected.
In LOPD, symptoms of progressive muscle weakness and breathing problems emerge in childhood or adulthood.
While these are the most recognized symptoms, glycogen accumulation can also cause problems in the central nervous system, or the brain and spinal cord, leading to cerebrovascular disease, a collection of conditions that affect blood flow in the brain. These symptoms are not as well-studied as others in LOPD.
In the recent report, scientists reviewed neuroimaging data from 30 adults with LOPD who were seen at a center in China to look for cerebrovascular problems. Also included were 26 age- and sex-matched healthy people, who served as a control group.
The median age of the patients was 28.5 years. The most common symptom among them was muscle weakness, followed by breathing problems.
Seven people had at some point experienced a stroke, where blood flow to the brain is compromised due to a blockage (cerebral infarction) or a vessel rupture/bleeding (hemorrhage). Related symptoms included dizziness, reduced strength, paralysis on one side of the body, and walking instability due to a stroke.
Most patients did not have significant cardiovascular risk factors for a stroke, such as diabetes or high cholesterol.
23 of 30 patients had disease of the arteries
Brain imaging showed 23 of the 30 patients had intracranial arteriopathy, a disease of the arteries, which is the largest type of blood vessels that supply oxygenated blood to tissues.
Artery disease took several different forms, including aneurysms, which is a bulge at a weak point in an artery wall, and fenestrations, or abnormal splitting of arteries, among other problems. These problems were largely not observed in the control group.
Fourteen patients had an abnormal narrowing (stenosis) in the cerebral arteries, which supply different parts of the brain with oxygenated blood, which again was not found in the control group.
Imaging confirmed evidence of a stroke in the seven people with a history of one, and all but one of those people also had cerebral arteriopathy or arterial stenosis, with arterial stenosis being a significant risk factor for having a stroke.
Beyond the arteries, problems in the smaller blood vessels of the brain were also observed in many patients, including an imaging finding called white matter hyperintensities that can reflect brain lesions as well as microbleeds, or tiny hemorrhages.
Overall, “our study revealed the complexity and diversity of cerebrovascular involvement in adult LOPD patients,” the researchers wrote.
Noted limitations of the study included the relatively small number of included patients from a single center. Long-term follow-up imaging in patients after enzyme replacement therapy was also not available.
Still, the findings highlight the importance of cerebrovascular involvement in LOPD. “A series of imaging evaluations of the brain and intracranial blood vessels is recommended as a routine workup in adult LOPD patients,” the scientists wrote.
Moreover, the findings suggest LOPD should be considered as a diagnosis for young adults presenting with a stroke from an unknown cause, they concluded.
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