Respiratory Support

Respiratory support is one of the most critical forms of management for Pompe disease, as most patients experience some form of respiratory compromise, and respiratory failure is the most common cause of premature death among children and adult patients.[1], [2]

Therapy most often involves:

  • Various forms of mechanical ventilation to assist weakened breathing muscles
  • Use of supplemental oxygen (restricted to certain situations)
  • Airway secretion clearance through assistive cough and other techniques
  • Tracheostomy in the most severe cases
  • Feeding modifications to reduce aspiration risks

Other interventions may include special forms of physical therapy to strengthen weakened respiratory muscles[1], [3] as well as aggressive management of infection. Generally, more frequent and invasive respiratory support is required as the disease progresses.[4-5]

Take Note: Monitoring Respiratory Status

The life-threatening nature of Pompe disease’s respiratory symptoms warrants regular monitoring, regardless of the patient’s current status. Sleep studies can be particularly helpful, since the supine position stresses weakened respiratory muscles and sleep-disordered breathing is common.[3], [6]

Find out more about ongoing monitoring

Mechanical Ventilation

Progressive Ventilatory Support

Mechanical ventilation can help prolong survival in patients with acute respiratory failure[1] as well as ease respiratory symptoms in less severly affected patients. The progressive nature of Pompe disease, generally results in an increased dependence on ventilation over time.

Because affected infants progress very rapidly, they often require ventilation within the first few months of diagnosis and are frequently immediately and permanently dependent on it.[7]

Among older patients, ventilatory support may initially be needed only at night to address sleep-disordered breathing, including obstructive sleep apnea or nocturnal hypoventilation, which commonly precede respiratory failure.[3], [6] As respiratory function becomes more compromised, daytime ventilation may be increasingly necessary.[8]

Modes of Ventilation[3]

In earlier stages of the disease, noninvasive ventilation is often sufficient (with or without supplemental oxygen as indicated):

  • Nasal continuous positive airway pressure (CPAP) ventilators are recommended for obstructive sleep apnea
  • Bilevel airway pressure (BiPAP) ventilators are recommended for nocturnal or daytime hypoventilation

In advanced cases where 24-hour ventilatory support is needed, a tracheostomy may be necessary.

Secretion Clearance & Infection Management

Because of diaphragmatic and other respiratory muscle weakness, patients with Pompe disease patients have a weakened cough, resulting in retained pulmonary secretions and an increased risk of pneumonia and other infections.

Several therapies can help manage these complications and improve pulmonary function:

  • Mechanical cough-assistive devices[3]
  • Manual measures such as suctioning and chest percussion
  • Use of an incentive spirometer to increase inhaled lung volume and eliminate mucous and saliva
  • Inspiratory muscle training to help strengthen diaphragm muscles[1], [2]
  • Prompt and aggressive treatment of pulmonary infection

Find out more about infection management as part of general medical care of Pompe disease patients

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. Winkel LP, Hagemans ML, van Doorn PA, et al. The natural course of non-classic Pompe’s disease; a review of 225 published cases. J Neurol 2006; 252:875-84.
  3. Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med 2006; 8:267-88.
  4. Hagemans ML, Hop WC, Van Doorn PA, Reuser AJ, Van der Ploeg AT. Course of disability and respiratory function in untreated late-onset Pompe disease. Neurology 2006; 66:581-3.
  5. Mellies U, Lofaso F. Pompe disease: A neuromuscular disease with respiratory muscle involvement. Respir Med. 2009;103(4):477-84
  6. Mellies U, Ragette R, Schwake C, et al. Sleep-disordered breathing and respiratory failure in acid maltase deficiency. Neurology 2001 Oct 9; 57(7): 1290-5.
  7. 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.
  8. Hill, Nicholas. Ventilator Management for Neuromuscular Disease. Semin Respir Crit Care Med 2002; 23(3): 293-305.

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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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