Pompe disease is a rare, progressive genetic disease in which there is an accumulation of a type of sugar called glycogen inside cells. This occurs due to mutations in the GAA gene that prevent the production of the enzyme acid alpha-glucosidase, which normally breaks down glycogen.
The accumulation of glycogen within the cells causes wide-ranging symptoms such as muscle weakness, scoliosis (an abnormal sideways curvature of the spine), breathing problems, and in severe cases, heart failure.
What are the factors affecting life expectancy?
Life expectancy in Pompe disease depends on several factors such as the type of Pompe disease a patient has, the severity of symptoms, and how well they are managed.
Classic infantile-onset Pompe disease is the most severe form of the disease in which symptoms appear within a few months after birth. Without treatment, affected babies often succumb to heart disease within their first year of life.
The non-classic infantile-onset form of the disease is comparatively less severe. It appears within the first year of life and has a slower progression rate, but patients often also have heart disease and breathing problems, which can be fatal if not attended to in time.
Late-onset Pompe disease can occur at any age. Patients with this type of disease have higher levels of the acid alpha-glucosidase enzyme than patients with the more severe forms of the disease. Patients with late-onset disease also show symptoms such as muscle weakness and breathing problems. They can survive up to age 30 if the disease appears in childhood and up to age 50 if it develops in adulthood. Generally, the later the age of onset, the slower the disease progression and the longer the life expectancy.
What can be done to increase life expectancy?
Although Pompe disease has no cure, symptoms can be managed to improve patients’ life expectancy if the disease is diagnosed early enough. Enzyme replacement therapy (ERT) such as Lumizyme (alglucosidase alfa, by Sanofi Genzyme) is the first line of treatment and is recommended to be started as soon as a diagnosis is confirmed.
Apart from ERT, support therapy can also enhance the quality of life of Pompe disease patients. This can include physical and occupational therapy and speech therapy, which can help improve muscle strength and food intake.
Dietary changes may be needed to ease eating difficulties due to weakened swallowing muscles. A high-protein, low-carbohydrate diet is also generally recommended. Check with your doctor and dietitian for a personalized dietary regimen.
Muscles involved in breathing are often affected in late-onset Pompe disease patients. Therefore, it is important to tackle breathing problems by early evaluation with pulmonary function tests and the use of assisted breathing devices such as mechanical ventilators as needed.
Last updated: Oct. 28, 2019
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