How does Pompe disease affect life expectancy?
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Pompe disease affects life expectancy according to the type and severity of the disease. While Pompe often leads to a shortened lifespan, treatment can help extend life expectancy.
There are three types of Pompe disease — classic infantile-onset, nonclassic infantile onset, and late-onset — each of which has a different life expectancy, depending on the age of onset, the progression of the disease, and the effectiveness of treatment.
Pompe disease is caused by mutations in the GAA gene leading to absent or reduced levels of an enzyme that metabolizes the breakdown of a complex sugar called glycogen into glucose. The condition also is known as glycogen storage disease type 2 (GSD2).
In people with Pompe disease, glycogen cannot be broken down, and builds to toxic levels inside cells. Muscle cells are especially affected because glycogen normally serves as a main source of energy to power muscle movements, including that of the heart.
What are the factors affecting life expectancy?
There are a number of factors affecting life expectancy for people with Pompe disease. These include:
- type of Pompe disease
- cardiac issues
- respiratory issues
- treatment effectiveness
- lifestyle.
Pompe disease type has the highest effect on life expectancy. Children with classic infantile-onset have the shortest life expectancy, while those with late-onset Pompe disease have the longest.
The most common cardiac issues in people with Pompe disease include cardiomyopathy (chronic disease of the heart muscle), arrhythmia, and heart failure.
Cardiac dysfunction can contribute to respiratory failure and size of the heart can also affect lung capacity.
Enzyme replacement therapy (ERT) and the combination approach Pombiliti (cipaglucosidase alfa) + Opfolda (miglustat) are the approved treatments for Pompe disease in the U.S. Effective treatment requires a multidisciplinary team, including specialists in cardiology, pulmonology, neurology, neuromuscular, orthopedics, respiratory therapy, physical and occupational therapy, speech therapy, and nutrition.
Lifestyle changes can include aerobic exercise and the use of orthotics and adaptive equipment.
Classic infantile-onset Pompe disease
Classic infantile Pompe disease is the most severe form of the disease and, without treatment, often results in death due to cardiac and respiratory failure before age 2. Isolated case reports suggest undergoing ERT can improve life expectancy, but more research is needed in this area.
Respiratory infections in children with classic infantile-onset Pompe disease can be life-threatening, and many require a ventilator to survive.
Cardiomyopathy is notable in those with classic infantile-onset Pompe disease, as the effects of glycogen accumulation are very pronounced in the heart.
Nonclassic infantile-onset Pompe disease
Nonclassic infantile Pompe disease is less severe, with slower progression of symptoms and less severe cardiomyopathy.
If left untreated, severe muscle weakness leads to respiratory failure in children with the nonclassic infantile-onset type by early childhood.
Late-onset Pompe disease
Late-onset Pompe disease is typically diagnosed in children older than 1 year of age and as late as the second to sixth decade of life, depending on when disease symptoms manifest. Pompe disease can be detected earlier as most U.S. states include the disease in their newborn screening programs.
Life expectancy for people with late-onset Pompe disease can vary greatly, ranging from early childhood to late adulthood. This is affected by the slower progression in the late-onset form of the disease, rate of respiratory failure, and other comorbidities. It is sometimes called adult-onset Pompe disease.
Can treatment increase life expectancy?
Treatment with ERT has been shown to extend life expectancy for people with Pompe disease, compared with what would be expected without treatment.
There are two ERT medications available in the U.S. for Pompe patients: Lumizyme (alglucosidase alfa; marketed under the brand name Myozyme outside the U.S.) and Nexviazyme (avalglucosidase alfa). Both therapies are marketed by Sanofi.
One literature review found the mortality rate of patients treated with Lumizyme was almost five times lower than patients who didn’t receive this treatment.
Interruption of ERT due to the COVID-19 pandemic in one study was shown to cause a clinical decline in muscle endurance and breathing ability, both of which can have an effect on life expectancy for those with Pompe disease.
The two-step treatment Pombiliti + Opfolda also includes a form of the GAA enzyme — cipaglucosidase alfa (pombiliti) — which is given with the enzyme stabilizer miglustat (Opfolda). It is marketed by Amicus Therapeutics.
Future outlook and lifestyle changes
An alternative therapeutic strategy for Pompe disease is gene therapy. Gene therapy for Pompe would work to restore the body’s ability to produce a functional GAA enzyme on its own by providing cells with a healthy version of the GAA gene.
After diagnosis, the healthcare team may discuss other treatments and lifestyle changes that may have an effect on life expectancy, including:
- physical and occupational therapy to preserve range of motion, and motor function
- light aerobic exercise to strengthen muscles, especially through functional exercises
- orthotics to assist with posture, and prevent contractures
- assistive devices to help with mobility, breathing, communication, and feeding
- nutritional support for a good diet, comprising 25% to 30% caloric intake made up of protein, and low levels of carbohydrates
- food prepared to help cope with swallowing difficulties brought on by weakened muscles of the mouth and throat.
Resistance training should be avoided, as well as more strenuous exercises, to avoid overwork weakness and fatigue. Care should be taken to address nutritional deficiencies, such as vitamin D.
Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
FAQs about Pompe disease life expectancy
Life expectancy depends on the type and severity of Pompe disease, and effectiveness of treatment. Those with classic infantile-onset have the shortest life expectancy, and those with late-onset Pompe disease have the longest.
The infant form of Pompe disease is usually fatal. The late onset form of Pompe disease can shorten life expectancy, depending on how it progresses.
Without treatment, babies with classic infantile-onset Pompe disease typically don’t survive beyond the age of 2, and most children with the nonclassic type don’t live past early childhood. For people with late-onset Pompe disease, life expectancy can vary depending on the severity of disease-induced breathing problems.
Modifications to diet, light aerobic exercise under the direction of physical or occupational therapists, orthotics, and assistive devices are some lifestyle changes that can help manage the symptoms of Pompe disease.
Pompe disease type affects life expectancy in addition to the severity of symptoms, and how effective treatment is in slowing progression of the disease. Without treatment, most babies with classic infantile-onset Pompe disease do not survive past age 2, while some adults with late-onset Pompe disease do not receive a diagnosis until they are older than 50.
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