A disease caused by a lack of the important enzyme alpha-galactosidase A is commonly referred to as Fabry disease, after the scientist who 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 the defective gene, there is an accumulation of fatty matter in lysosomes. Ultimately, the disease leads to the destruction of the vascular walls, cells and tissues. Fabry disease is a rare genetic disorder also called "lysosomal storage disease".
Symptoms
The disease, according to medical observations, first manifests itself in adults and children in the pre- and pubertal period.
Symptomatology of the disease is as follows:
- Burning and soreness that occurs in the limbs, aggravated by physical exertion and contact with hot. Pain is often accompanied by feverish conditions.
- Weakness. Very often, such manifestations are accompanied by a bad mood, anxiety, a feeling of anxiety. Patients feel a deterioration in mood and self-doubt, which significantly reduces the quality of life.
- Reduce 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.
- Formation of rashes in the buttocks, groin, lips, fingers.
- Autonomic disorders.
About a third of children develop articular syndrome along with the listed symptoms. The child experiences increasing muscle pain, decreased vision, lack of cardiovascular activity. As the enzyme deficiency progresses, kidney damage and an increase in blood pressure are observed. Nevertheless, such a diagnosis is made very rarely for children, which is why it is so important to contact professional centers for blood tests at the genetic level in case of any manifestations.
Who inherits the disease?
Many people wonder how Fabry disease manifests itself, what is it? According to the research, doctors came to the following conclusions:
- The disease can develop in a person regardless of gender.
- The gene that causes the development of the disease is localized inX chromosome. Men have only one X chromosome, and if it contains the affected gene, they are more likely to develop symptoms. A man cannot pass the disease on to his sons, but all daughters inherit this defect.
- Women have two X chromosomes, so there is a 50/50% chance of passing the disease to children of either sex.
- Symptoms often appear in childhood, adolescence, and young adults.
- The defective gene occurs in 1 in 12,000 newborns, which is rare.
Diagnosis of disease
Correct diagnosis often causes difficulties, since the disease is quite rare and manifests itself with a whole range of clinical symptoms. Patients with suspected Fabry disease are examined by specialists from different clinical areas.
Practical experience shows that between the initial manifestations of symptoms and the final diagnosis takes about 12 years on average. It is very important to establish the disease as early as possible in order to begin a full treatment.
He althcare professionals should suspect this genetic disorder 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), practically does not manifest itself, so diagnosis can be complicated.
Diagnosis of the disease in men
The following activities are available for males:
- Analysis of the pedigree, genealogical tree. Consideringthe hereditary nature of the lesion, the collection of a family history is of primary importance in the diagnosis. But for members of the same family, the disease may remain unrecognized.
- Research on the content of the enzyme galactosidase in the blood.
- DNA analysis - carried out in case of obtaining ambiguous results of biochemical studies. DNA can be taken from any biological material.
Fabry disease: diagnosing lesions in women
For females, the following activities are implemented:
- Pedigree analysis.
- DNA analysis.
- The content of the enzyme in the blood is not the main indicator of the disease, due to asymmetric activation of the X chromosomes. It may be within the normal range, even if the woman has an ailment.
Prenatal Diagnosis
Research 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 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. Listening reveals insufficiencyheart valves, irregular contractions.
- Impaired he althy blood flow in the brain. The patient experiences frequent dizziness, a serious complication is a stroke.
Treatment
Persons with suspected Fabry disease are referred 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 implemented.
Up until the year 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. Treatment consists of enzyme replacement therapy. Patients are prescribed drugs alpha-, beta-galactosidase.
Fabry's disease (whose symptoms and investigations have led to a correct diagnosis) should be treated immediately. It is carried out through injections that 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 metabolism, eliminates the recurrence of symptoms, prevents the development of the disease.
Replagal is considered the main drug used for replacement. The solution is available in 5 ml vials. The drug is well tolerated, in rare cases there are side effects: itching, abdominal pain,fever.
If the disease causes severe pain, patients may additionally be prescribed anticonvulsants, analgesics, anti-inflammatory nonsteroidal 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 ongoing 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 globotriaosil sphingosine is used as an indicator of effectiveness.
Injections are not prescribed during pregnancy and lactation, unless the woman has another life-threatening disease.
Results
Fabry disease is a serious genetic lesion, accompanied by pain, worsening the quality of human life and leading to disability. Many patients do not receive appropriate treatment, therefore they are unable to work effectively, study, complain of feelings of disappointment, fatigue, depression, anxiety.
Severity of everyday symptoms can worsen as the disease progresses, and people with it have an average life expectancy of 15 years less than that of the general population. But Fabry's disease is not a sentence, with such an ailment, subject to substitution therapy, one can lead a full life.
