Fabry's disease: symptoms, treatment, photo

The disease, caused by a shortage of an important enzyme of alpha-galactosidase A, is commonly called Fabry's disease, after the scientist who researched and discovered it. For the first time mutations in genes were described in 1989 in England.

In the normal state, this enzyme is present in virtually all cells of the body and participates in the processing of lipids. In persons who inherited a defective gene, there is an accumulation of fatty matter in lysosomes. Eventually, the ailment leads to the destruction of the vascular walls, cells and tissues. Fabry's disease is a rare genetic pathology, also called "lysosomal accumulation disease".

Symptoms

The disease, according to medical observations, first appears in adults and children in the pre-and pubertal period.

The symptomatology of the ailment is as follows:

• Burning and soreness arising in the limbs, increasing with physical activity and contact with hot. Pain is often accompanied by feverish conditions.
• Weakness. Very often such manifestations are accompanied by a bad mood, anxiety, anxiety. Patients feel a deterioration in their mood and insecurity in their own abilities, which significantly reduces the quality of life.
• Decreased perspiration.
• Fatigue of the feet and hands. Man, as the disease develops, can not perform even the most ordinary actions, as he experiences constant fatigue. Coupled with pain, such symptoms lead to complete helplessness.
• Proteinuria. Ailment, accompanied by increased excretion of protein along with urine. Often such a symptom causes a wrong diagnosis.
• Formation of rashes in the buttocks, groin, lips, on the fingers.
• Vegetative disorders.

Approximately one-third of children at the same time with the listed symptoms develop an articular syndrome. The child experiences increasing muscular pain, decreased vision, lack of cardiovascular activity. As the progression of enzyme deficiency is observed, kidney damage, increased blood pressure. Nevertheless, children are rarely diagnosed with this diagnosis, which is why it is so important to contact professional centers for blood testing at any genetic level.

Who inherits the ailment?

Many people wonder how Fabry's disease manifests, what is it? According to the conducted researches, physicians came to such conclusions:

• The disease can develop in a person regardless of gender.
• The gene that causes the development of the disease is localized in the X chromosome. Men have only one X chromosome, and if it contains an affected gene, the likelihood of developing symptoms is very high. A man can not transmit illness to his sons, but all daughters inherit this defect.
• Women have two X-chromosomes, so the probability of transmission of an ailment to children of either sex is 50/50%.
• Symptoms often occur in childhood and adolescence, as well as in young people.
• A defective gene occurs in one of 12,000 newborns, that is, infrequently.

Diagnosis of the disease

Correct diagnosis is often difficult, since the disease is rare and manifests itself in 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, an average of about 12 years. It is very important to establish the disease as early as possible in order to begin a full-fledged treatment.

Medical workers should suspect the presence of this genetic damage if a person has a combination of more than two symptoms of the disease. In early childhood, Fabry's disease (the photo of the affected chromosome is presented below), practically does not manifest, so the diagnosis can be complicated.

Diagnosis of the ailment in men

For males the following activities are carried out:

• Analysis of the family tree, the genealogical tree. Considering the hereditary nature of the lesion, the main importance in diagnosis is the collection of a family anamnesis. But the members of one family disease may remain unrecognized.
• A study on the content of the enzyme galactosidase in the blood.
• DNA analysis - is carried out in the case of obtaining ambiguous 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 implemented:

• Analysis of the pedigree.
• DNA analysis.
• The enzyme content in the blood is not the main indicator of the disease, which is due to asymmetric activation of the 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 fetal tissues. This is necessary in case the mother suffers from a genetic disease or there are suspicions that the baby can inherit Fabry's disease. Symptoms of the disease are almost not manifest after birth and make themselves felt at an older age.

Potential complications

If the patient has not been diagnosed and the disease is not treated, in most cases the following complications develop:

• Acute kidney failure. A person constantly loses protein in the urine, that is, proteinuria develops.
• Change of functions and heart shape. When listening, cardiac insufficiency is revealed, irregular contractions.
• Disorders of healthy blood flow in the brain. The patient experiences frequent dizziness, a serious complication is a stroke.

Treatment

Persons with suspicion of Fabry's disease are sent to specialized centers where there is experience of treating lysosomal accumulation diseases. In these institutions, the presence of pathology is confirmed and appropriate therapy is 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 used, helping to eliminate not only the symptoms that cause Fabry's disease. Treatment consists in enzyme replacement therapy. Patients are prescribed preparations of alpha-, beta-galactosidase.

Fabry's disease (whose symptoms and studies allowed to establish a correct diagnosis) is subject to immediate therapy. It is carried out through injections, 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 a person tolerates the infusion well . Treatment allows you to normalize the metabolism, eliminates the recurrence of symptoms, prevents the development of ailment.

The main drug used to replace is "Replagal". 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 non-steroid agents.

Many experts believe that proper diagnosis and therapy of Fabry's disease can change the natural course of the disease. Effective use of substitution treatment can stop its development.

Laboratory testing

Against the background of the course, it is necessary to quantify ceramide trihexoside. With successful treatment, its concentration decreases. In some clinical studies, the level of globotriosiol of sphingosine becomes an indicator of effectiveness.

The injections are not prescribed during pregnancy and lactation, if the woman does not have another disease that presents a danger to life.

Results

Fabry's disease is a serious genetic defeat, accompanied by pain, worsening the quality of life and leading to disability. A lot of patients do not get proper treatment, so they are unable to work effectively, learn, complain about feelings of frustration, fatigue, depression, anxiety.

The severity of everyday symptoms can worsen with the development of the disease, and the life expectancy of persons suffering from it is on average 15 years less than that of the majority of people. But Fabry's disease is not a sentence, with such an ailment, under the condition of substitution therapy, one can live a full life.