April 15 is World Pompe Disease Day. This ultra-rare, genetic disease is a difficult opponent, both to diagnose and treat, especially since the process of the disease and the age of onset of symptoms are variable. The first symptoms can occur at any age, but the earlier they appear, the faster the disease progresses and has a more intense course. Regardless of age, Pompe disease causes skeletal muscle weakness, which makes it difficult to move independently and ultimately to breathe independently.
What is Pompe disease?
Pompe disease is a multisystem, genetic, hereditary disease caused by mutation of the 'GAA' gene, which encodes information about the production and function of the GAA ('acid alpha-glucosidase') protein. What does this mean in practice? Glycogen, a complex sugar that is stored in the liver, is the initial form of fuel for muscles. During biochemical processes, it is broken down into the easily digestible simple sugar glucose. Deficiency or impairment of the GAA protein, in turn, impedes the conversion of glycogen into glucose.
In Pompe disease, skeletal muscles, smooth muscles, heart, as well as other tissues accumulate glycogen and, as a result of glycogen deposition, become damaged, which translates into impaired muscle structure and function. This causes patients to have problems with movement and respiratory function.
Symptoms of Pompe disease
In the classic pediatric form, the first symptoms of Pompe disease appear by the age of three months. Characteristic at that time is cardiac dysfunction due to cardiac hypertrophy. Infants affected by the condition suffer from general weakness of skeletal muscles. Since the development of all systems is at an early stage, the life expectancy of patients in this age group, if no treatment is implemented, is about two years.
Weakening of muscle strength is the first and main symptom of Pompe disease. Apart from the infantile form, cardiac problems (cardiac hypertrophy) are rare, due to the more developed body. Patients struggle with difficulty in movement and decreased respiratory function (to varying degrees).
The ways in which Pompe disease is clinically divided vary among authors of scientific publications. Some use the division into 'classic infantile', 'childhood' and 'adult' forms, while others categorize the condition by 'early' and 'late symptoms'.
Treatment of Pompe disease
If we talk about the treatment of Pompe disease, it should be divided into three categories:
- general treatment,
- Enzymatic Replacement Therapy,
- supportive therapies.
The overall treatment process for Pompe disease sufferers is a joint effort of the entire interdisciplinary team, which includes specialists including pediatricians, neurologists, orthopedists, nutritionists, physiotherapists, cardiologists, internists, among others. The degree of involvement of each of them depends on the individual needs of the patient, as the entire treatment plan is based on them. In the case of genetic therapy, the care of a geneticist is also important.
Enzymatic Replacement Therapy
Enzyme Replacement Therapy involves intravenous administration of a replacement enzyme in the form of recombinant human acid alpha-glucosidase. Recombinant GAA does not fully cure Pompe disease, leaving residual symptoms, but nevertheless significantly prolongs life and improves comfort in many patients.
The main advantage of enzyme therapy is the stabilization of disease progression. Studies have shown that it is an effective form of treatment, despite the fact that in a negligible number of patients with poor prognosis, the administration of recombinant GAA sometimes causes deterioration.
Other forms of therapy, i.e. physiother...