Symptom Management

Because of the multisystemic impact of Pompe disease, symptom management and supportive care for patients fall into several categories. Management of clinical manifestations can help extend life expectancy and improve quality of life, particularly among children and adult patients.[1]

More Details: Areas of Care

Many individuals with Pompe disease will eventually require some form of respiratory support as well as physical therapy and/or the use of assistive devices. Careful cardiac monitoring is critical for the disease presentations seen in most infants, although rarely necessary for older patients. Psychosocial support and general medical care (such as addressing feeding difficulties and preventing infections) are also crucial to optimizing overall wellbeing in the face of a debilitating disorder.

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Individualized Care

Not every type of therapy will be necessary for every patient at all times. An individual’s plan for care will depend on the signs and symptoms experienced and degree of clinical severity. Because of the progressive nature of Pompe disease, patients’ treatment plan will likely evolve over time, with additional intervention needed at later stages of the disease course.

Note that most of these areas of care are relevant primarily for patients who present after infancy and experience a somewhat slower rate of disease progression. Most infants with Pompe disease have acute signs and a rapid rate of progression with death generally occuring by 8.2 months of age; supportive therapies may only transiently extend survival.[2]  The majority of these patients die by the age of one year.[1],[2],[4]

Feeding Modifications

Because of weakened jaw muscles and swallowing difficulties, patients with Pompe disease are at a high risk of aspiration while eating. To ameliorate this risk, thickeners can be added to food for a safer swallowing texture. In some cases, tube feeding may be necessary.

A Multidisciplinary Approach

Standard of care guidelines published by the American College of Medical Genetics (ACMG) as an educational resource recommends a multidisciplinary approach to managing Pompe disease. It is recommended that health care professionals with experience in Pompe disease or similar disorders should coordinate the patient’s care across all relevant therapeutic areas.[3]

Learn more about the ACMG Management Guidelines

Care coordination chart 

References

  1. Hirschhorn, Rochelle and Arnold J. J. Reuser. Glycogen Storage Disease Type II: Acid Alpha-glucosidase (Acid Maltase) Deficiency. In: Scriver C, Beaudet A, Sly W, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th Edition. New York: McGraw-Hill, 2001. 3389-3420.
  2. Kishnani PS, Hwu W-L, Mandel H, Nicolino M, Yong F, Corzo D. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 2006; 148:671-676.
  3. Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med 2006; 8:267-88.
  4. van den Hout H, Hop W, van Diggelen O, Smeitink J, Smit G, Poll-The B, et al. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics 2003;112:332-40.

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Schedule of Assessments

The Pompe Registry has developed a recommended schedule of assessments to help in the care and monitoring of patients with Pompe disease.

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Pompe Registry

Find out about the Pompe Registry, an ongoing, observational database that tracks natural history and outcomes of patients with Pompe disease.

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