Bone density in patients with late onset Pompe disease

Papadimas, George K.; Terzis, Gerasimos; Papadopoulos, Constantinos; Areovimata, Anna; Spengos, Konstantinos; Kavouras, Stavros A.; Manta, Panagiota

doi:10.5812/ijem.4967

Cited by 17 publications

(14 citation statements)

References 24 publications

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“…The improvement in BMD was more marked in patient 1 than in patient 2, suggesting that the treatment effect could be more obvious in those with a lower baseline BMD and that strength might be less important than body weight. These observations agreed with the previous reports that described inconsistent ERT responses in LOPD patients with diverse characteristics [ 6 , 18 ]. Nevertheless, patient 3 had similar disease severity to patient 4, but she did not gain weight, and her physical performance deteriorated slightly in the follow-up, yet she still had a 10% increase in BMD.…”

Section: Main Textsupporting

confidence: 93%

Improvement of bone mineral density after enzyme replacement therapy in Chinese late-onset Pompe disease patients

Sheng¹,

Chu²,

Wong³

et al. 2017

BMC Res Notes

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ObjectiveLate-onset Pompe disease (LOPD) is a lysosomal storage disease resulted from deficiency of the enzyme acid α-glucosidase. Patients usually develop a limb-girdle pattern of myopathy and respiratory impairment, and enzyme replacement therapy (ERT) is the only specific treatment available. Recently, LOPD has been associated with low bone mineral density (BMD), but the effect of ERT on BMD is inconclusive. In this report we described our early observations on the change of BMD after ERT in Chinese LOPD patients.ResultsWe studied four Chinese LOPD patients with different severities of myopathy. All were underweight, and three had osteoporosis at baseline. We found significant weight gain in three patients after ERT and all four patients showed improvement in BMD. The biggest improvement, 84.4% increase in BMD, was seen in a lady with the most prominent weight recovery. Our results suggest that ERT improves BMD in Chinese LOPD and weight gain could be a major contributor to this effect.

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Section: Main Textsupporting

confidence: 93%

Improvement of bone mineral density after enzyme replacement therapy in Chinese late-onset Pompe disease patients

Sheng¹,

Chu²,

Wong³

et al. 2017

BMC Res Notes

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“…DEXA scanning has also found a low bone mineral density (BMD) in a high proportion of Pompe patients (40)(41)(42), and that low BMD correlated with muscle weakness (41). The latter effect is likely related to the known stimulatory effect of muscle contraction on osteoblasts (synthesis) and the failure of osteoblast activation with reduced mechanical stimuli (43,44).…”

Section: Body Compositionmentioning

confidence: 99%

Nutrition and exercise in Pompe disease

Tarnopolsky¹,

Nilsson²

2019

Ann. Transl. Med

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The current standard of care for Pompe disease (PD) is the administration of enzyme replacement therapy (ERT). Exercise and nutrition are often considered as complementary strategies rather than "treatments" per se. Nutritional assessment is important in patients with locomotor disability because the relative hypodynamia limits energy expenditure and thus the total amount of energy must be reduced to avoid obesity. A lower total energy intake often leads to lower protein and micronutrient intake. Consequently, ensuring that Pompe patients are tested for and replaced for deficiencies (protein, vitamin D, vitamin B12, etc.) is an important aspect of care. Furthermore, given the role of autophagy in the pathophysiology of PD and the fact that fasting induces autophagy, it is important that strategies such as nutritional timing and amino acid intake (L-arginine, L-leucine) be evaluated as therapies. Exercise interventions have been shown to improve six-minute walk testing distance by more than what was seen in the seminal ERT study in late-onset PD. Exercise therapy can also activate autophagy, and this is likely another component of its efficacy. The current review will evaluate the theoretical and practical aspects of nutrition and exercise as therapies for patients with PD.

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“…Low bone mineral density and osteoporosis have been reported in LOPD patients [ 47 ]. Studies of the effect of ERT on bone mineral density suggest that ERT administration may moderately improve bone mineral density in some, but not all, LOPD patients [ 88 , 89 ].…”

Section: Management Of Components Of Lopdmentioning

confidence: 99%

Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group

et al. 2015

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BackgroundPompe disease is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme alpha-glucosidase responsible for degrading glycogen. Late-onset Pompe disease has a complex multisystem phenotype characterized by a range of symptoms.MethodsAn expert panel from the Middle East and North Africa (MENA) region met to create consensus-based guidelines for the diagnosis and treatment of late-onset Pompe disease for the MENA region, where the relative prevalence of Pompe disease is thought to be high but there is a lack of awareness and diagnostic facilities.ResultsThese guidelines set out practical recommendations and include algorithms for the diagnosis and treatment of late-onset Pompe disease. They detail the ideal diagnostic workup, indicate the patients in whom enzyme replacement therapy should be initiated, and provide guidance on appropriate patient monitoring.ConclusionsThese guidelines will serve to increase awareness of the condition, optimize patient diagnosis and treatment, reduce disease burden, and improve patient outcomes.

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Bone density in patients with late onset Pompe disease

Cited by 17 publications

References 24 publications

Improvement of bone mineral density after enzyme replacement therapy in Chinese late-onset Pompe disease patients

Improvement of bone mineral density after enzyme replacement therapy in Chinese late-onset Pompe disease patients

Nutrition and exercise in Pompe disease

Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group

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