Overview
Pompe disease, also known as Glycogen Storage Disease Type II (GSD II) or Acid Maltase Deficiency (AMD), is a rare, inherited disorder that occurs when a lot of glycogen (the stored form of glucose in our body) builds up inside our cells. This condition is caused by a deficiency of an enzyme called acid alpha-glucosidase (GAA), which plays an essential role in breaking down glycogen into glucose. When the glycogen starts to accumulate in various tissue types, particularly muscles, the muscles start to get progressively weak. Furthermore, as the disease advances, the patients start to experience respiratory problems.
This article will present an overview of the impact of Pompe disease on quality of life (QoL) and discuss possible strategies for maintaining and improving QoL for individuals affected by this condition.
Understanding pompe disease
Pompe disease can be classified into two main forms based on the time of onset: infantile-onset and late-onset.
- Infantile-onset Pompe disease occurs within the first few months of life. It is characterised by severe muscle weakness, cardiomyopathy, and respiratory difficulties. If no appropriate treatment is administered, this type of Pompe disease is usually fatal within the first year of life
- Late-onset Pompe disease can manifest at any age from childhood to adulthood. It is characterised by a slower progression and it generally affects skeletal muscles. As the disease advances, the patients start to have mobility issues and respiratory problems.1
Impact on quality of life
Living with Pompe disease can seriously mess with your quality of life in so many ways – physically, emotionally, and socially.
On the physical side, the muscle weakness that comes with Pompe disease often means people need to rely on things like wheelchairs and walkers. They usually need a lot of help from caregivers for everyday tasks like bathing, dressing, and eating, which can be incredibly frustrating and make them feel less independent.2
Breathing issues are also a big part of Pompe disease, so many people need ventilatory support. This can range from non-invasive ventilation to more intense invasive mechanical ventilation. Needing this kind of respiratory aid can be uncomfortable and requires major lifestyle changes, like having special equipment and constant medical supervision.
Emotionally, Pompe disease is tough on both patients and their families. The disease keeps progressing, causing a steady decline in physical abilities. This creates a lot of uncertainty and anxiety about the future, leading to emotional exhaustion. People often end up feeling helpless, hopeless, and depressed. Families, watching their loved ones go through this, deal with a lot of stress, which can mess with family dynamics and overall mental health. Plus, since Pompe disease is hereditary, there's an extra layer of worry about the genetic risks for other family members.
Socially, Pompe disease can be very isolating. The physical limitations and need for special care and medical equipment often make it hard to join in on social activities that most people take for granted. Simple things like family gatherings, social events, or even just taking a walk can become challenging or even impossible. This leads to feelings of loneliness and isolation, making the emotional burden even heavier. The need for continuous medical care and the physical constraints of the disease can also disrupt education and job opportunities, limiting economic independence and making people feel socially marginalised.3
Strategies for maintaining quality of life
Early diagnosis and enzyme replacement therapy (ERT)
Early diagnosis and intervention are crucial for managing Pompe disease. Newborn screening programs can help detect the condition early, allowing for prompt initiation of treatment.
Enzyme Replacement Therapy (ERT) with recombinant human GAA has been a significant advancement in the treatment of Pompe disease. ERT can help reduce glycogen accumulation, improve muscle function, and enhance respiratory capacity, thereby improving overall QoL.4
Multidisciplinary care
Effective management of Pompe disease requires a multidisciplinary approach involving various healthcare professionals, including neurologists, cardiologists, pulmonologists, physical therapists, and nutritionists. Regular monitoring and tailored interventions can help address the diverse needs of individuals with Pompe disease. Physical therapy is essential to maintain muscle strength and mobility, while respiratory therapy can help manage breathing difficulties.5
Nutritional support
Nutrition plays a vital role in managing Pompe disease. A balanced, protein-rich, diet can help maintain muscle mass and support overall health. Some individuals may benefit from a high-protein, low-carbohydrate diet to reduce glycogen storage. Regular consultations with a nutritionist can help tailor dietary plans to individual needs, promoting better health outcomes.6
Psychological support
Given the emotional burden of living with a chronic and progressive disease, psychological support is crucial. Counselling and support groups can provide emotional relief and coping strategies for patients and their families. Mental health professionals can help address issues such as anxiety, depression, and stress, improving overall emotional well-being.7
Social support and advocacy
Social support networks and advocacy groups play a significant role in improving the QoL for individuals with Pompe disease. There are a few organizations that can provide resources, support, and advocacy for patients and their families. Connecting with others facing similar challenges can reduce feelings of isolation and provide practical advice for managing the disease.8
Technological and mobility aids
Technological advancements and mobility aids can significantly enhance the independence and QoL for individuals with Pompe disease. Devices such as power wheelchairs, stair lifts, and adaptive home equipment can facilitate daily activities and improve accessibility. Advances in assistive technology, including communication aids and environmental control systems, can further support individuals in leading more autonomous lives.9
Respiratory care
Respiratory complications are a significant concern for individuals with Pompe disease. Regular pulmonary function tests and proactive respiratory care, including the use of non-invasive ventilation and airway clearance techniques, are essential. Early intervention and continuous respiratory support can help manage symptoms and prevent complications, thus improving QoL.10
Case studies and real-life experiences
Several case studies and real-life experiences highlight the impact of comprehensive care on QoL for individuals with Pompe disease. For example, a study involving patients on long-term ERT reported improvements in motor function and stabilization of respiratory function, which translated to better QoL.11
Another study emphasized the importance of multidisciplinary care, noting that patients receiving coordinated care from a specialised team had better health outcomes and improved psychosocial well-being.12
Research and future directions
Research is crucial for finding better ways to understand and treat Pompe disease.
Gene therapy, which aims to fix the genetic defect causing the disease, is showing a lot of promise. Clinical trials are currently testing these gene therapy methods to see if they’re safe and effective. If they work, they could totally transform how Pompe disease is managed and make a huge difference in the quality of life for those affected.13
In addition, scientists are exploring new drug treatments like chaperone therapies and substrate reduction therapies (SRT). These treatments aim to either improve the stability and function of the GAA enzyme or reduce glycogen build-up in the body. These new approaches offer hope for more targeted and effective interventions.14
Summary
Living with Pompe disease is really challenging because it affects so many parts of life – physically, emotionally, and socially. But with early diagnosis, enzyme replacement therapy (ERT), and a comprehensive care approach that includes nutritional and psychological support, social advocacy, and assistive technologies, people with Pompe disease can see significant improvements in their quality of life.
Looking ahead, ongoing research and new treatment options give hope for even better outcomes. A holistic approach to care and support is essential for helping individuals with Pompe disease live fulfilling and empowered lives.
References
- van der Ploeg AT, Reuser AJ. Pompe's disease. Lancet. 2008;372(9646):1342-53. doi:10.1016/S0140-6736(08)61555-X.
- Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006;8(5):267-88. doi:10.1097/01.gim.0000218152.87434.f3.
- Hagemans ML, Janssens AC, Winkel LP, Sieradzan KA, Reuser AJ, Van Doorn PA, et al. Late-onset Pompe disease primarily affects quality of life in physical health domains. Neurology. 2004;63(9):1688-92. doi:10.1212/01.wnl.0000144138.89200.e9.
- van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, et al. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med. 2010;362(15):1396-406. doi:10.1056/NEJMoa0909859.
- Schoser B, Stewart A, Kanters S, Kanters S, Hamed A, Jansen JP. Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis. J Neurol. 2017;264(4):621-30. doi:10.1007/s00415-016-8220-8
- Van Der Ploeg AT, Reuser AJ. Pompe’s disease. The Lancet [Internet]. 2008 [cited 2024 Nov 5]; 372(9646):1342–53. Available from: https://linkinghub.elsevier.com/retrieve/pii/S014067360861555X
- Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, et al. Pompe disease diagnosis and management guideline. Genetics in Medicine [Internet]. 2006 [cited 2024 Nov 5]; 8(5):267–88. Available from: https://linkinghub.elsevier.com/retrieve/pii/S1098360021032238
- Hagemans MLC, Janssens ACJW, Winkel LPF, Sieradzan KA, Reuser AJJ, Van Doorn PA, et al. Late-onset Pompe disease primarily affects quality of life in physical health domains. Neurology [Internet]. 2004 [cited 2024 Nov 5]; 63(9):1688–92. Available from: https://www.neurology.org/doi/10.1212/01.WNL.0000142597.69707.78
- Van Der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, et al. A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe’s Disease. N Engl J Med [Internet]. 2010 [cited 2024 Nov 5]; 362(15):1396–406. Available from: http://www.nejm.org/doi/abs/10.1056/NEJMoa0909859
- Schoser B, Stewart A, Kanters S, Hamed A, Jansen J, Chan K, et al. Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis. J Neurol [Internet]. 2017 [cited 2024 Nov 5]; 264(4):621–30. Available from: https://doi.org/10.1007/s00415-016-8219-8
- Bodamer OA, Ratschmann R, Pongratz D, Gerbitz KD. High-protein-low-carbohydrate diet (Huenermann-Neuberger) in glycogen storage disease type II. Eur J Pediatr. 1997;156(2):133-4. doi:10.1007/s004310050548
- Wasserstein MP, Andriola M, Arnold G, Aron A, Duffner P, Erbe RW, et al. Clinical outcomes of children with abnormal newborn screening results for Krabbe disease or Pompe disease. Genet Med. 2016;18(12):1235-43. doi:10.1038/gim.2016.39
- Güngör D, de Vries JM, Hop WC, Reuser AJ, van Doorn PA, van der Ploeg AT. Survival and associated morbidity in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy. Orphanet J Rare Dis. 2011;6:34. doi:10.1186/1750-1172-6-34
- Güngör D, De Vries JM, Hop WC, Reuser AJ, Van Doorn PA, Van Der Ploeg AT, et al. Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy. Orphanet J Rare Dis [Internet]. 2011 [cited 2024 Nov 5]; 6(1):34. Available from: http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-6-34
- Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR, et al. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med. 2009;11(3):210-9. doi:10.1097/GIM.0b013e318198bfb6
- Figueroa-Bonaparte S, Segovia S, Llauger J, Belmonte I, Pedrosa I, Alejaldre A, et al. Muscle MRI findings in childhood/adult onset Pompe disease correlate with muscle function. PLoS One. 2016;11(10)
. doi:10.1371/journal.pone.0163493 - Figueroa-Bonaparte S, Segovia S, Llauger J, Belmonte I, Pedrosa I, Alejaldre A, et al. Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function. PLoS ONE [Internet]. 2016 [cited 2024 Nov 5]; 11(10):e0163493. Available from: https://dx.plos.org/10.1371/journal.pone.0163493
- van der Ploeg AT, Carlier PG, Carlier RY, Kissel JT, Laforêt P, Løkken N, et al. Home-based treatment improves mobility and reduces hospital visits in late-onset Pompe disease: results from a randomized study. Muscle Nerve. 2020;62(6):741-50. doi:10.1002/mus.27076
- Desnuelle C, Berthe G, Eymard B, Goemans N, Schoser B, Laforêt P. Quality of life of patients with late-onset Pompe disease treated with alglucosidase alfa: a randomized, placebo-controlled, double-blind, multicenter, multinational study. Orphanet J Rare Dis. 2022;17(1):99. doi:10.1186/s13023-022-02182-8
- Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J. Timing of diagnosis of patients with Pompe disease: data from the Pompe Registry. Am J Med Genet A. 2013;161A(10):2431-43. doi:10.1002/ajmg.a.36060
- Kohler L, Puertollano R, Raben N. Pompe disease: from basic science to therapy. Neurotherapeutics. 2018;15(4):928-42. doi:10.1007/s13311-018-00687-4
- Kohler L, Puertollano R, Raben N. Pompe Disease: From Basic Science to Therapy. Neurotherapeutics [Internet]. 2018 [cited 2024 Nov 5]; 15(4):928. Available from: https://pmc.ncbi.nlm.nih.gov/articles/PMC6277280/
