Respiratory failure and sleep-disordered breathing in late-onset Pompe disease: a narrative review

Abstract

Pompe disease, or glycogen storage disease type II (GSDII), or acid maltase deficiency, is a rare autosomal recessive disease caused by a deficiency of the lysosomal enzyme acidalpha glucosidase (GAA). This leads to an accumulation of glycogen in smooth, skeletal and respiratory muscles, and cardiac myocytes. Depending upon the residual GAA activity, it manifests in one of two forms. Infantile onset Pompe disease (IOPD), caused by absent GAA, presents with cardiomyopathy, respiratory failure and/or muscle hypotonia within the first year of life (1). These patients are unlikely to survive beyond 18 months (2). Late-onset Pompe disease (LOPD), caused by reduced rather than absent GAA, presents with a milder form, any time from 1 year to adulthood. Although milder, LOPD is progressive and can lead to severe disability and respiratory insufficiency (3). In contrast to IOPD, which is characterized by severe cardiomyopathy, less than 10% of LOPD patients suffer

Airway abnormalities and pulmonary complications in long‐term treated late‐onset Pompe disease: Diagnostic and interventional by flexible bronchoscopy

“…It has been proposed that diaphragm atrophy, which is often associated with reduced lung height and band-like atelectasis, can be considered a hallmark of respiratory failure in LOPD patients. [23][24][25][26] To evaluate dynamic anatomic airway disorders in patients with LOPD Glycogen accumulates in tracheal and bronchial smooth muscles with reduced calcium signaling, which leads to poor contractility. 6,19,28 Glycogen is also accumulated in the diaphragm, intercostal muscles, tongue, and respiratory motor neurons.…”

“…One study used PSG, PFT, chest CT, and MRI examinations to evaluate respiratory insufficiency in patients with LOPD. It has been proposed that diaphragm atrophy, which is often associated with reduced lung height and band‐like atelectasis, can be considered a hallmark of respiratory failure in LOPD patients 23–26 . To evaluate dynamic anatomic airway disorders in patients with LOPD who have received Myozyme, a recent study 27 performed dynamic respiratory muscle functional tests including dynamic kinematic MRI of the thorax.…”

Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID‐19 pandemic

“…These patients have reduced vital capacity and are at risk of acute deterioration due to lower respiratory tract infections. Influenza and pneumococcal vaccinations are highly recommended (for review, see Shaw et al [3]). Furthermore, during the first pandemic, the risk of nosocomial COVID‐19 was deemed to be high due to the lack of masks available for patients (mostly in March–April 2020), as well as doctors and paramedics (outside the hospitalization sector for COVID‐19 units), and the iterative hospitalizations for ERT every 2 weeks.…”

Late-onset Pompe disease - literature review and summary of current knowledge

“…Głównymi dolegliwościami chorych z późną postacią choroby Pompego jest osłabienie kończyn dolnych powodujące trudności w poruszaniu się, zwłaszcza w wstawaniu z pozycji siedzącej, wchodzeniu po schodach. Kolejno często występują zaburzenia w układzie oddechowym powodujące wzmożoną męczliwość, szczególnie przy wysiłku i duszność w pozycji leżącej [1,5,6]. W badaniu fizykalnym można zaobserwować również dodatni objaw Trendelenburga, czyli opadanie miednicy podczas stania na jednej z kończyn lub w trakcie chodzenia [19].…”

“…[17]. Osłabienie mięśni oddechowych może być przyczyną zaburzeń oddychania podczas snu, które mogą wyprzedzać inne, jawne objawy niewydolności oddechowej [2,6]. Pacjenci prezentują niespokojny sen, nocne wybudzanie czy poranny ból głowy, spowodowane hiperkapnią [17].…”