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Fabry disease is a rare genetic disease that suggests its symptoms include degeneration of the joints or heart disease. This makes it much more difficult to make an early diagnosis and implement appropriate treatment, which may even lead to disability, not only in terms of mobility. What are the causes and symptoms of Fabry disease? What is its inheritance? Is it possible to cure her?
Fabry diseaseis a congenitalstorage diseasefrom the mucopolysaccharidosis group. This means that in its course there is a deposition (storage) of glycosphingolipids (harmful products of metabolism) in blood vessels and other tissues, as well as organs, and thus - their functions are impaired. This process is caused by the lack of the enzyme alpha-galactosidase A, which is essential in the process of removing glycosphingolipids from the body.
The prevalence of the disease is estimated at 1: 40,000-1: 120,000 male births. Thus, the disease belongs to the groupof rare diseases . Fabry disease, according to estimates by the patient association, affects from 50 to 100 people in Poland.
Fabry disease - causes and inheritance
The disease is caused by a mutation in the GLA gene at the Xq22 locus, which encodes the protein of the aforementioned alpha-galactosidase enzyme. The mutated gene is located on the X chromosome, however, it is not inherited like most diseases in this group, i.e. autosomal recessive (as reported by most sources), but as a dominant sex-linked trait, similar to Hunter's disease and Danon's disease (source: Kucharczyk-Foltyn A.,Cardiac manifestation of Fabry disease - the way to diagnosis. Case report , "Folia Cardiologica Excerpta" 2011, vol. 6, no. 2).
Fabry disease - symptoms
Symptoms of the disease are paroxysmal pains in the limbs (especially joints), which raises the suspicion of rheumatic disease. There are two types of pain in the course of the disease:
The most common symptom of Fabry disease is disturbances in body thermoregulation - sweating. This means that the body is unable to cool down on its own, which causes it to overheat quickly, causing fever and pain in the feet and hands characteristic of the disease.
- acroparesthesia - pain in the hands and feet, which most often takes the form of burning and itchingand they appear periodically during the day;
- so-called Fabry breakthroughs - these are attacks of severe pain in the feet and hands, radiating to the other parts of the limbs. Attacks can last from a few minutes to several days.
The described pain symptoms are the result of the deposition of glycosphingolipids in the cells of the nervous system.
There are disturbances in thermoregulation (patients do not sweat) and a characteristic rash in the form of keratinized hemangiomas, which is located around the thighs, groin, genitals and abdomen.
The accumulation of glycosphingolipids, mainly in vascular endothelial cells, leads to damage to many organs, in particular the kidneys, heart and brain, which manifests itself in:
- degeneration in the cornea of the eye, caused by the storage of glycosphingolipids in the blood vessels;
- cardiovascular complications: hypertrophic cardiomyopathy, heart failure, arrhythmia, heart valve failure, heart attacks,
- renal failure and proteinuria;
- dizziness and fainting (the risk of strokes also increases);
- stomach pains caused by a disease of the stomach and intestines. Usually these are postprandial pains, diarrhea and nausea
Although the first symptoms of the disease appear already in childhood - this was the case in 75 percent of of respondents - as much as 73 percent diagnoses are made after at least 5 years of searching.
Fabry disease - treatment
The causal treatment of genetic diseases is not possible. The therapy is based on enzymatic supplementation, i.e. the delivery, usually by intravenous route, of preparations containing the missing enzyme, in order to remove the already existing storage deposits, as well as to prevent the formation of new ones. Two preparations containing alpha-galactosidase A (agalsidase a and agalsidase b) are registered in the European Union and both are available in Poland.
More information about the disease can be found on the website of the Association of Families with Fabry Disease.
ImportantNo Fabry treatment reimbursed in Poland
In Poland, for over 12 years, patients have been unsuccessfully fighting for access to reimbursed therapy, which slows down and alleviates the progression of the disease and gives patients a chance for a relatively normal and active life. Currently, only people qualified for the so-called charity treatment programs run by drug manufacturers. This form of access to treatment is used by people who have participated in clinical trials and by patients in serious condition. However, they are not sure how long it will takecharitable funding of therapy. Many newly diagnosed patients - including children whose disease has not yet made a lasting change - have no chance of accessing life-saving treatment. Among the people participating in the study, 21 patients receive charity treatment.
- Despite the existence of enzyme replacement therapy, which prevents disease progression and avoids life-threatening complications, many Polish patients are left without treatment. In all European Union countries, people suffering from Fabry disease receive effective and reimbursed treatment. It seems that only in Poland our right to life is too expensive for the he althcare system to take it into account, explains Roman Michalik from the Association of Families with Fabry Disease.