Pompe disease

Symptoms

What are the lung problems in Infantile onset Pompe disease?

The most common lung problems in infantile onset Pompe disease (IOPD) involve the inability to breathe well because the diaphragm, a muscle that helps the lungs draw in air, doesn't work as well as it should. This causes less air in the lungs, a weak cough, and problems with breathing during sleep (sleep apnea). Infants with Pompe disease are more likely to aspirate (breathe in liquid or food) which can lead to aspiration pneumonia, an infection of the lungs. It can sometimes be hard to tell if infants are developing breathing problems because we can't test a baby's lung function by asking him/her to breathe in and out. Instead, the doctor will ask about how the baby sleeps during the day and the ability to do things like walk or eat without breathing hard. When someone can't breathe deeply, they also can't cough very well and so they build up secretions (fluid) in the lungs that can get infected, leading to pneumonia. Problems with breathing during sleep can happen before daytime breathing problems because the diaphragm has to work harder to move the lungs when a person is lying down. A sleep study can be done to find out if a child has sleep apnea and breathing machines can be used to help them breathe (for example, a CPAP machine). Sometimes infants and children with IOPD need help with breathing through a ventilator (breathing tube). A tracheostomy, commonly referred to as a trach, may need to be performed. It is a surgery that places a hole into the neck and into the trachea (windpipe) so that the breathing tube can be directly connected to the lungs. If a trach is done, it can be removed later if the child gets stronger and can breathe without the ventilator. A respiratory therapist is someone specially trained to help people manage their breathing problems, for example, there may be exercises that can help to strengthen the breathing muscles.

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

Pompe Disease - Managing Symptoms: Breathing Difficulties https://www.pompe.com/en/patients/managing-pompe/managing-symptoms/breathing.aspx

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