Enlarged Tongue Leads to Severe Symptoms in Elderly LOPD Patients
Macroglossia, or an abnormally enlarged tongue, caused difficulty swallowing, speech abnormalities, and reduced breathing during sleep for five people with late-onset Pompe disease (LOPD), according to a recent French study.
Treatment with enzyme-replacement therapy (ERT), a standard of care for Pompe patients, did not alleviate the debilitating symptoms, the research team noted.
“Our patients underline the complications and the severity of macroglossia, with significant impact on their quality of life,” the researchers wrote. “Detection of macroglossia should be part of the clinical diagnosis and follow-up of patients with LOPD, with a careful evaluation of its main consequences.”
The study, “A potentially severe complication of late-onset POMPE disease,” was published in the European Journal of Neurology.
LOPD, which emerges in childhood or adulthood, is a genetic condition leading to a faulty or absent acid-alpha glucosidase (GAA) enzyme that causes a type of complex sugar called glycogen to build up to toxic levels inside of cells. This typically leads to muscle weakness and respiratory problems.
Macroglossia is a clinical sign of other neuromuscular disorders, like muscular dystrophy, and has been reported in LOPD patients.
The research team examined clinical characteristics in LOPD patients with macroglossia from the French national Pompe disease registry to explore the relationship between macroglossia and LOPD.
The team identified five such patients among the 262 people included in the registry since 2004. The five were between ages 71–88; three were female.
Pompe symptoms had emerged between the ages of 40–60 in the five patients, and usually involved muscle weakness and movement difficulties. Four of them had symptoms suggesting involvement of the tongue before their Pompe diagnosis.
Common symptoms included dysarthria (slurred speech), dysphagia (swallowing dysfunction), and problems sticking out the tongue. Two patients required speech therapy.
Dysphagia was severe in two patients, and led to such significant eating difficulties in one woman that she required a gastrostomy, which involves the insertion of a feeding tube directly into the stomach. Other patients also reported eating difficulties and weight loss.
Tongue atrophy, or muscle loss, was observed in three patients. Tongue hypertrophy, or muscle enlargement, occurred in one man and was associated with significant tongue immobility and respiration problems in sleep. He required a surgical procedure, called a partial glossectomy, to remove some of his tongue several years before his Pompe diagnosis.
One patient also had severe, persistent breathing problems during sleep despite the use of assistive ventilation.
ERT did not significantly ease macroglossia symptoms in the patients.
“We were neither able to detect any improvement of macroglossia or symptoms related to tongue involvement in our patients … To our knowledge, no report focuses on the efficacy of ERT on macroglossia, a question that would deserve a specific study,” the researchers wrote.
Many of these observations were similar to those from previous reports, but those were of younger patients whose symptoms were not as severe, they noted.
“Enlarged tongue has severe functional impacts on speech, social interaction, nutrition and sleep and a longer disease duration could be a predictive factor of its severity,” the researchers wrote. They suggested glycogen building up in the tongue over time likely accounted for the progression of disabling macroglossia in these older patients.
Fatty accumulations in muscles on MRI scans are a typical sign of Pompe. In patients who underwent MRIs, these accumulations could be seen on the tongue and are called the “bright tongue sign.”
“Whole-body MRI with facial sections may facilitate the early diagnosis of Pompe disease with the ‘bright tongue sign’,” the research team wrote.
“In conclusion, macroglossia is probably an under-evaluated symptom of LOPD needing an increased awareness of physicians to systematically examine tongue and swallowing in patients with LOPD, especially elderly,” the researchers wrote. “We aim to improve the collection of these data in the French Pompe registry in the coming years, in order to answer to the questions regarding the frequency, the severity, and the possible correlation with the disease duration.”