The disease caused by a lack of an important enzyme, alpha galactosidase A, is commonly called Fabry disease, after a scientist who researched and discovered it. Mutations in genes were first described in 1989 in England.
In the normal state, this enzyme is present in almost all cells of the body and is involved in the processing of lipids. In individuals who have inherited a defective gene, an accumulation of fatty matter in lysosomes is observed. Ultimately, the disease leads to the destruction of the vascular walls, cells and tissues. Fabry disease is a rare genetic pathology that is also called "lysosomal storage disease."
Symptoms
The disease, according to medical observations, first appears in adults and children in the pre- and puberty.
Symptoms of the disease are as follows:
- Burning and soreness that occurs in the limbs, aggravated by physical exertion and contact with hot. Pain is often accompanied by febrile conditions.
- Weakness. Very often, such manifestations are accompanied by a bad mood, anxiety, and a sense of anxiety. Patients feel a deterioration in mood and self-doubt, which significantly reduces the quality of life.
- Reduced sweating.
- Fatigue of legs and arms. A person, as the disease develops, cannot perform even the most ordinary actions, as he experiences constant fatigue. Together with pain, such symptoms lead to complete helplessness.
- Proteinuria The disease is accompanied by increased excretion of protein along with urine. Often, such a symptom becomes the cause of an incorrect diagnosis.
- The formation of rashes in the buttocks, groin, lips, on the fingers.
- Vegetative disorders.
Approximately one third of children develop joint syndrome along with the symptoms listed. The child experiences increasing muscle pain, decreased vision, and a lack of cardiovascular activity. As enzyme deficiency progresses, kidney damage and an increase in blood pressure are observed. Nevertheless, such a diagnosis is very rarely given to children, therefore it is so important to contact professional centers for blood tests at a genetic level for any manifestations.
Who inherits the disease?
Many people wonder how Fabry disease manifests itself, what is it? According to studies, doctors came to the following conclusions:
- The disease can develop in humans, regardless of gender.
- The gene that causes the development of the disease is localized on the X chromosome. Men have only one X chromosome, and if it contains the affected gene, the likelihood of developing symptoms is very high. A man cannot pass the disease to his sons, but all daughters inherit this defect.
- Women have two X-chromosomes, so the probability of transmitting the disease to children of any gender is 50/50%.
- Symptoms often occur in childhood and adolescence, as well as in young people.
- A defective gene is found in one of 12,000 newborns, that is, infrequently.
Diagnosis of the disease
Correct diagnosis is often difficult, as the disease is quite rare and manifests itself in a whole gamut of clinical symptoms. Patients with suspected Fabry disease are screened by specialists in different clinical areas.
Practical experience shows that on average about 12 years elapse between the initial manifestations of symptoms and the final diagnosis. It is very important to establish the disease as early as possible in order to begin full treatment.
Health workers should suspect the presence of this genetic lesion if a person has a combination of more than two symptoms of the disease. In early childhood, Fabry disease (a photo of the affected chromosome is presented below) is practically not manifested, therefore, the diagnosis can be complicated.
Diagnosis of ailment in men
For males, the following events are held:
- Analysis of the pedigree, the family tree. Given the hereditary nature of the lesion, the collection of a family history is of primary importance in the diagnosis. But in members of the same family, the disease may remain unrecognized.
- A study on the content of the enzyme galactosidase in the blood.
- DNA analysis - is carried out in case of obtaining mixed results of biochemical studies. DNA can be taken from any biological material.
Fabry disease: diagnosis of lesions in women
For women, the following activities are carried out:
- Pedigree analysis.
- DNA analysis.
- The content of the enzyme in the blood is not the main indicator of the disease, which is due to asymmetric activation of X chromosomes. It can be within normal limits, even if a woman has an ailment.
Prenatal diagnosis
The study is carried out by measuring the level of the enzyme in the tissues of the fetus. This is necessary if the mother suffers from a genetic disease or if there are suspicions that the baby may inherit Fabry disease. Symptoms of the disease practically do not appear after birth and make themselves felt at an older age.
Potential complications
If the patient is not diagnosed and the disease is not treated, in most cases the following complications develop:
- Acute renal failure. A person constantly loses protein in the urine, that is, proteinuria develops.
- Changing the functions and shape of the heart. When listening reveals insufficiency of heart valves, irregular contractions.
- Disorders of healthy blood flow in the brain. The patient experiences frequent dizziness, a stroke becomes a serious complication.
Treatment
Persons with suspected Fabry disease are sent to specialized centers where there is experience in the treatment of lysosomal storage diseases. In these institutions, the presence of pathology is confirmed and appropriate therapy is being implemented.
Until 2000, the main therapeutic principle was aimed at overcoming the negative conditions that develop with the progression of the disease. At the moment, a different approach is being taken to help eliminate not only the symptoms that Fabry disease causes. The treatment consists in enzyme replacement therapy. Alpha, beta-galactosidase preparations are prescribed to patients.
Fabry disease (symptoms and studies of which have made it possible to establish the correct diagnosis) is subject to immediate treatment. It is carried out by injection, which the patient receives every two weeks. This method can be implemented with the help of a nurse in a clinic or at home if the person tolerates the infusion well . Treatment allows you to normalize the metabolism, eliminates the recurrence of symptoms, prevents the development of the disease.
The main drug used for substitution is considered Repagal. The solution is available in 5 ml vials. The tool is well tolerated, in rare cases, the occurrence of side effects: itching, abdominal pain, fever.
If the disease causes severe pain, patients may be additionally prescribed anticonvulsants, analgesics, anti-inflammatory non-steroid drugs.
Many experts believe that the correct diagnosis and treatment of Fabry disease can change the natural course of the disease. The effective use of substitution treatment can stop its development.
Laboratory control
Against the background of the course, it is necessary to carry out a quantitative determination of ceramide trihexoside. With successful treatment, its concentration decreases. In some clinical studies, the level of globotriaosyl sphingosine becomes an indicator of effectiveness.
Injections are not prescribed during pregnancy and lactation, unless the woman has another disease that is life threatening.
Summary
Fabry disease is a serious genetic lesion, accompanied by pain, impairing the quality of human life and leading to impaired capacity. Many patients do not receive appropriate treatment, therefore they are unable to work effectively, study, complain of a feeling of frustration, fatigue, depression, anxiety.
The severity of everyday symptoms can worsen with the development of the disease, and the life expectancy of people suffering from it is on average 15 years less than most people. But Fabry’s disease is not a sentence, with such an ailment, subject to substitution therapy, you can lead a full life.