Pompe’s disease can proceed in a variety of ways, but the most serious difference in symptoms and outcomes depends on when it begins: in infancy or as an adult. It is a classic glycogenosis with impaired glycogen breakdown and is the earliest known hereditary lysosomal accumulation pathology.
In this inherited disease, there is a lack of enzymes within the lysosomes, the organelles that break down substances within the cell. And what was supposed to be broken down – in the case of Pompe disease, it’s glycogen – accumulates.
The body cannot produce the protein that breaks down the complex sugar glycogen for energy. Too much sugar accumulates and damages muscles and organs. Pompe’s disease causes muscle weakness and difficulty breathing. It mainly affects the liver, heart, and muscles. It is also called by terms such as GAA deficiency or glycogen storage disease type II.
If a child or adult has been diagnosed with Pompe’s disease, it is important to know that each case is different and that doctors have treatments to help manage the condition.
The cause of Pompe’s disease
Pompe’s disease is an inherited pathology that can occur in anyone, but is more common in African Americans and some Asian groups. It is transmitted from parents if the child inherits one defective gene from each of them. The mother or father, however, does not develop the disease because of the presence of only one defective gene.
One gene with mutations does not show symptoms of the disease.
Symptoms of Pompe’s disease.
What the symptoms will be, when they start, and how much of an impact on health depends on the age of onset and on individual characteristics.
Early-onset, or infantile, Pompe’s disease appears in children from a few months to 1 year of age (most commonly at 2-3 months). Signs may be as follows:
- Problems with eating and lack of weight gain.
- Poor control of head and neck muscles.
- Sluggish baby syndrome and the “frog” pose: if the child is laid down, arms and legs are spread at the sides, it is difficult to move them.
- Reaching motor developmental milestones (sitting, crawling) later than normal for children under one year of age.
- Respiratory problems and lung infections.
- Enlarged and thickened heart or heart defects.
- Enlarged liver.
- Large tongue.
If the symptoms begin at a late age-an average of 60 years of age-it is called late-onset Pompe’s disease. This type of pathology tends to develop slowly and usually does not affect the heart. Signs may be as follows:
- Feeling of weakness in the legs, trunk, and arms.
- Dyspnea, heavy exercise, and pulmonary infections.
- Problems with breathing during sleep.
- Spinal curvature.
- Enlarged liver.
- Enlarged tongue that makes it difficult to chew and swallow.
- Stiff (stiff, poorly bendable joints.
Diagnosis of Pompe’s disease
Many of the symptoms of this pathology are similar to other diseases. To help find out what is going on, the doctor interviews the patient, asking questions:
- Do you feel weak, fall a lot, or have difficulty walking, running, climbing stairs, or getting up?
- Do you have trouble breathing, especially at night or when you lie down?
- Do you have a headache in the morning?
- Do you get tired a lot during the day?
- When you were a child, what health problems did you have?
- Does or has anyone else in your family had similar problems?
Depending on what the symptoms are, you may need to get tests to rule out other conditions.
- If the doctor thinks it is late-onset Pompe’s disease, this is often confirmed by the following tests:
- Muscle samples, skin fibroblasts, and white blood cells to estimate how much glycogen is there.
- A blood sample to see how well the “bad” protein works, or a study of the degree of activity of the enzyme, acid α-1,4-glucosidase (maltase) in the blood (the “dry spot” method).
- Genetic testing for the genes that cause Pompe’s disease.
It can take about 3 months to accurately diagnose Pompe disease in an infant. Scientists in Kazakhstan point out that due to lack of alertness, the same process may take up to 7-9 years for adults because of the vague symptoms and the need to first rule out more descriptive and common causes of the condition.
Once doctors are certain of the diagnosis, it is also recommended that family members be tested for the gene problem.
Treatment for Pompe’s disease.
Early treatment, especially for children, is critical in preventing damage to the body. Enzyme replacement therapy improves survival, cardiac and motor function.
This is the only therapy currently developed for Pompe’s disease: drugs are used to make up for the deficiency of the enzyme alpha-1,4-glucosidase in the body.
Three injectable drugs replace the missing enzyme and help the body process sugar properly: lumisim, myosim for infants and children, nexviazim for children 1 year old and people with late-onset Pompe disease. Treatment is expensive.
According to the 1st European Consortium based on international expert opinion, enzyme replacement therapy has also been proven effective for adult patients with severe lesions.
What to expect: prognosis
Prognosis depends on the form of the disease: Pompe disease with early onset is considered the most unfavorable. In the severe course of the infantile form, the average life expectancy is 12-18 months.
Because Pompe’s disease can affect many parts of the body, therapy is provided by a team of specialists: an internist, cardiologist, neurologist, pulmonologist, nutritionist (muscle weakness and enlarged tongue cause problems swallowing food).
As a rule, the later in life the disease manifests itself, the slower it progresses. Infants can be treated, but because their symptoms are more intense and progress rapidly, a great deal depends on when enzyme replacement therapy is started: at the National Center for Child Health, experts have used it to achieve a 79% reduction in infant mortality in Pompe disease. It is optimal to start treatment before the age of six months.
With a late debut of Pompe disease, muscle weakness worsens over time and can eventually lead to serious breathing problems.
Sources used
Alglucosidase alfa – a new stage in the therapy of infantile (infantile) form of Pompe disease / Basargina Elena Nikolaevna, Arkhipova E. N., Ermolenko V. S. – 2014 – â„–5European agreement on the use of enzyme replacement therapy in adult patients with Pompe disease: 10-year experience / Van Der Ploeg A.T., Kruijshaar M.E., Toscano A., Laforet P., Angelini C., Lachmann R.H., Pascual Pascual S.I., Roberts M., Rosler K., Stulnig T., Van Doorn P.A., Van Den Bergh P.Y. K., Vissing J., Schoser B. // Neuromuscular diseases – 2018 – â„–4Diagnostic criteria of Pompe disease / Mukhambetova G.A., Seytkazykyzy A.S., Kadrzhanova G.B., Usembaeva R.B. // Bulletin of ASIUV – 2013 – â„–3
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