Breathing Difficulties

Most people with Pompe disease eventually experience breathing difficulties. These difficulties may start out mild, and it may take some time before patients or doctors recognize them. Yet it is extremely important to manage these symptoms, since they can be life-threatening.[1], [2] Therapy and support are available to manage breathing problems and help prevent serious complications:

  • Mechanical ventilation, using machines or devices to help get enough air into the lungs
  • Respiratory therapy, including exercises and techniques to help patients strengthen muscles, better clear their lungs, and minimize infection risks

Why Do Breathing Troubles Occur?

Pompe disease often results in a weakened diaphragm, the large muscle located just below the lungs that plays a crucial role in breathing. A weakened diaphragm makes it hard to breathe deeply and get enough air into the lungs, especially when lying down, as well as to cough strongly enough to clear mucus out of the lungs, eventually leading to respiratory insufficiency.  It can eventually progress to respiratory failure, where the body cannot breathe at all on its own—a serious and life-threatening situation. Seeking treatment at the first sign of breathing problems can help prevent this medical emergency.

Importance of Breathing Tests

Breathing troubles caused by Pompe disease may develop slowly or come on suddenly. That’s why it’s critical that patients have regular check-ups to monitor the condition of their breathing muscles and lungs—even if they are not currently experiencing problems. The generally recommended schedule for testing is every 3-6 months for children under 5 and yearly for older patients[3], [4] but each patient's doctor can determine the best timetable.

Learn more about breathing tests 

Getting Help with Breathing

Respiratory therapy can provide the critical support needed to manage breathing problems brought on by Pompe disease. A respiratory therapist can teach exercises to strengthen breathing muscles. As these muscles get weaker, however, many people with the disease will need mechanical ventilation to help them breathe.[1], [5]

Mechanical ventilation machines support breathing by sending air into the lungs when muscles cannot do it on their own. Patients may first learn to use ventilators in a hospital or clinic, while portable ventilators allow breathing support during day-to-day activities.

Forms of Ventilation

There are two main forms of ventilation:

Noninvasive ventilation uses just a mask over the nose and/or mouth to deliver air from the ventilator. Two types of noninvasive ventilators are often recommended for people with Pompe disease:

  • BiPAP (bilevel airway pressure) ventilators, most often for daytime use
  • CPAP (continuous positive airway pressure) ventilators, usually used to regulate breathing during sleep

Invasive ventilation involves a tube inserted into the nose, mouth, or sometimes directly into the windpipe through a surgical procedure called a tracheostomy. The tube connects to a ventilator to provide intensive breathing support in the most serious and life-threatening situations.

Changing Ventilation Needs

Ventilation needs of children and adults often evolve over time. In the earlier stages of the disease, ventilators may only be necessary at night while sleeping.[3], [4] As the disease progresses and breathing problems become more severe, the ventilator may be needed during the day as well.

Other Strategies

While ventilation is the primary form of respiratory therapy for individuals with Pompe disease, other strategies and techniques can also be helpful for addressing breathing-related issues.

Because of a weak cough, some people may not be able to clear mucous from their lungs, making them susceptible to infections such as bronchitis or pneumonia. Weak swallowing muscles also create the risk of accidentally inhaling food or liquids into the lungs while eating. Respiratory and physical therapists can teach people exercises to strengthen muscles and reduce these risks.[1], [2] There are also various techniques and devices to help clear the lungs and airway.[3]

Infection & Illness[6]

Because of weakened breathing muscles, many individuals with Pompe disease cannot clear their lungs sufficiently, making them susceptible to lung infections. This means that just catching a cold can easily develop into something more serious like bronchitis or pneumonia.

The best way to deal with these concerns is through preventative measures, such as:

  • Staying up-to-date with recommended vaccines—including the yearly flu shot—for patients as well as their household members
  • Being diligent about hand washing to avoid spreading germs
  • Seeing a doctor any time a patient has a cough, fever, or other cold-like symptoms
  • Having regular check-ups to monitor a patient's lungs and breathing abilities

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. 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.
  5. 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.
  6. Kishnani PS, Steiner RD, Bali D et al. Pompe disease diagnosis and management guideline. Genet Med 2006 8:267-88.

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