Pompe disease


What are the lung problems found in Late onset Pompe disease?

The most common lung problems in late onset Pompe disease (LOPD) involve the inability to breathe well because the diaphragm doesn't work as well as it should. This causes less air to enter the lungs, a weak cough, and problems with breathing during sleep (sleep apnea). People with LOPD are more likely to aspirate, or breathe in liquid or food, which can lead to aspiration pneumonia (lung infection). Adults should have regular pulmonary function testing (PFTs) to determine how well the lungs are working. It is difficult to perform PFTs on children because they don't always understand the instructions. When someone can't cough strongly enough, 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 someone has sleep apnea, and breathing machines can be used to help them breathe (for example, a CPAP machine). If a person develops respiratory failure and cannot breathe by himself/herself, he/she may need to be ventilated. A tracheostomy, commonly referred to as a trach, may need to be performed. It is a surgery that puts 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 person 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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