Pompe disease is a rare, genetically determined metabolic disease in which the body does not break down glycogen into glucose. As a consequence, glycogen is deposited in the body, especially in muscles - including the heart and respiratory muscles - leading to their progressive decline. Consequently, without proper treatment, the disease inevitably leads to death. What are the causes and symptoms of Pompe disease? What is the treatment?

Source: newsrm.tv

Pompe diseaseis a genetically determined neuromuscular disease caused by a deficiency or lack of an enzyme responsible for the breakdown of one of the metabolism's substances - glycogen. As a result of this deficiency, polysaccharides accumulate in the body's cells - mainly in the muscle cells, which lead to the destruction and weakening of the muscles of the limbs, respiratory muscles and the heart. There are two forms of the disease - infantile and late-onset adult. Pompe disease affects people of all ages. About 50,000 patients worldwide have been diagnosed to date. In Poland - only 30.

Depending on the time of the onset of the disease symptoms, there are two types of Pompe disease - early onset (infantile type - the first symptoms usually appear before the age of 1) and late onset (childhood, adolescent and adult type) ).

Pompe disease - causes

Deficiency in the enzyme responsible for the breakdown of glycogen is caused by a mutation in the gene that contains instructions for the production of this enzyme.

The disease is inherited in an autosomal recessive manner, ie in order for a child to become ill, he or she must receive one copy of the defective gene from each parent. If each parent carries one abnormal copy of the gene, the probability of having a child with Pompe disease is 25%.

Source: newsrm.tv

Pompe disease - symptoms

The symptoms of the disease depend on the degree of enzyme activity. In the infant form, its lack of the enzyme is observed, so the symptoms of the disease are very clear:

  • muscle flaccidity
  • enlargement of the heart muscle (cardiomyopathy)
  • respiratory failure

Some children may develop an enlarged liver, tongue or hearing loss.

Entry afterstairs is like climbing Mount Everest - these are the feelings you experience every day with Pompe disease.

The first symptoms of late adulthood will be fatigue, even with little exertion, and shortness of breath. However, at first, breathlessness does not need to be pronounced. The patient may only feel its effects, such as headaches, insomnia and decreased concentration. Then, as a result of skeletal muscle damage, the patient has limited walking abilities, and difficulties arise, especially in climbing stairs. Spine deformities may also develop.

- At the age of 23, the first symptoms of Pompe disease appeared in me. Two years later I found myself in a hospital pulmonary ward with acute respiratory failure. Then the diagnosis was made. The weakening of the respiratory muscles caused increasing hypoxia and a feeling of constant fatigue. Everyday activities, such as walking through the city, climbing stairs, or professional work, which I had to give up, have become a challenge - recalls Maciej Ptasiński, president of the Association of Patients with Pompe Disease, co-organizer of the campaign "Nasz Everest" in an interview with the news agency NewsrmTV.

A thousand Poles may have a rare Pompe disease

Important

The symptoms of the disease depend on the degree of enzyme activity. In the infant type, the enzyme is completely absent, with severe generalized symptoms in newborns and infants as a consequence. In turn, a partial enzyme deficiency may become apparent at any age after infancy. Then the symptoms are milder (e.g. there is no cardiomyopathy).

Pompe disease - diagnosis

Most patients have elevated levels of phosphocreatine kinase (CPK) in their blood. If, in addition, there are the above-mentioned symptoms, it is advisable to perform a dry blood drop test to determine the concentration of the enzyme responsible for the breakdown of glycogen.

The ambiguous symptoms of the disease mean that the diagnosis may last up to 8 years, which reduces the patients' chances of quick treatment and leading an active life.

The test consists in pricking the patient's finger and collecting one drop of blood on a blotting paper. If the enzyme levels are dramatically lowered, Pompe disease may be suspected. The final diagnosis is made on the basis of the results of a genetic test.

Late-stage Pompe disease can resemble, for example, girdle-limb muscular dystrophies, polymyositis, and even spinal muscular atrophy. As a result, the diagnosis of the disease may take longer and even lastseveral years.

Pompe disease - treatment

In Pompe disease, enzyme replacement therapy is used, i.e. the patient is given a drug that replaces the enzyme activity and allows the normal breakdown of glycogen. Thanks to this, the progress of the disease will be inhibited. However, the drug does not allow the lesions to reverse. The use of a low-sugar and high-protein diet is of some importance in the treatment.

Where to go for help

The Association of Patients with Pompe Disease is a place where people struggling with this disease can seek help.

Patients wait up to 8 years for a diagnosis. It's Pompe Disease

Category:

Genetic diseases