Can you get Pompe disease as an adult?
Pompe disease is a rare genetic condition that affects the heart and muscles. It is sometimes referred to as acid-maltase disease or glycogen storage disease type II. It is brought on by mutations in the *GAA* gene, which produces the acid alpha-glucosidase enzyme. Glycogen, a kind of stored sugar in muscle cells, must be broken down by this enzyme. Glycogen builds up in cells due to a lack of acid alpha-glucosidase, which mostly affects the heart and skeletal muscles and causes gradual muscle weakening.
Pompe Disease Types
Pompe illness can manifest in two primary ways:
1. Pompe disease with infantile onset: This severe variant, which manifests in early infancy, progresses quickly. Infants may exhibit symptoms such as severe muscle weakness, breathing difficulty, and an enlarged heart (cardiomegaly). Within the first year or two of life, the illness becomes life-threatening if left untreated.
2. Late-Onset Pompe Disease: This form, which develops more slowly than the infantile variant, can appear at any point from childhood to maturity. Although the heart is typically not as seriously affected as in the infantile type, late-onset Pompe disease mostly affects the skeletal muscles, resulting in weakness, breathing problems, and trouble with physical activities.
Pompe disease patients’ life expectancy
Depending on the kind and severity of Pompe disease, a person’s life expectancy varies greatly:- Infantile-Onset Pompe Disease: The disease progresses quickly, and complications including heart disease and respiratory failure reduce life expectancy to a few years if therapy is not received. Life expectancy can be increased with enzyme replacement therapy (ERT), although the illness still needs to be managed for the rest of one’s life.
The life expectancy for late-onset Pompe disease varies greatly. Although gradual muscular loss can eventually result in respiratory failure and mobility difficulties, some people may live well into adulthood. For patients with late onset, ERT has increased life expectancy and quality of life, although it does not totally stop the progression of the disease.
Is it possible to cure Pompe disease?
Pompe disease cannot be cured at this time. The goals of treatment are to control symptoms and delay the course of the illness. The main treatment is enzyme replacement therapy (ERT), which helps patients reduce glycogen accumulation by giving them the enzyme their bodies lack. ERT has been proven to improve muscle function and prolong lifespan in both infantile and late-onset Pompe cases. In order to manage symptoms and preserve quality of life, physical therapy, respiratory assistance, and routine monitoring are also crucial.
Pompe Disease: Is It Terminal?
Because Pompe disease, especially the infantile variety, progresses over time, it is frequently seen as a life-limiting illness. Pompe disease is a devastating ailment that has no known cure, despite the fact that ERT can prolong life expectancy. For many, it’s a lifetime battle that necessitates constant medical attention and symptom control.
Is Pompe Disease Contagious in Adulthood?
Yes, late-onset Pompe disease, a kind of Pompe disease, can appear in adults. The significant heart involvement observed in Pompe disease with infantile start is usually absent in this variant of the disease, which advances more slowly. Muscle weakness, trouble walking, exhaustion, and breathing issues are some of the symptoms, which frequently get worse with time. It may take until symptoms start to interfere with everyday activities for those with late-onset Pompe disease to receive a diagnosis.
Coping with Pompe Disease
A multidisciplinary strategy including genetic counselling, routine physical examinations, respiratory assistance, and ERT is necessary for those with Pompe disease. Those who have a family history of the illness benefit most from genetic counselling. Even though Pompe illness cannot be completely cured, improvement in treatment can lead to better results and a higher quality of life for those who have it.