Fabry disease: symptoms, treatment, photos

The Disease is caused by the lack of an important enzyme alpha-galactosidase A, is called Fabry disease, by the name of the scientist who investigated and opened it. For the first time mutations in the genes was described in 1989 in England.

In normal condition this enzyme is present in almost all cells of the body and is involved in the processing of lipids. Individuals who inherited a defective gene, there is an accumulation of fatty substance in the lysosomes. Ultimately, the disease leads to destruction of vascular walls, cells and tissues. Fabry disease-a rare genetic disease, which is also called “lysosomal storage disease of accumulation”.

Symptoms

The Disease, according to medical observations, which first manifested in adults and children in the pre - pubertal period.

Symptoms of the disease is as follows:

• Burning and soreness that occurs in the limbs, aggravated by physical exertion contact with hot. The pain is often accompanied by febrile conditions.
• Weakness. Very often these manifestations are accompanied by poor mood, anxiety, anxiety. Patients feel a worsening of mood and lack of confidence in their own abilities, which greatly reduces the quality of life.
• Decreased sweating.
• Fatigue of the feet and hands. People with the development of the disease, unable to perform even the most ordinary actions, as experiencing constant fatigue. Along with pain, these symptoms lead to complete helplessness.
• Proteinuria. The disease is accompanied by increased excretion of protein with urine. Often, this symptom becomes the cause of incorrect diagnosis.
• The Formation of rashes in the buttocks, groin, lips, fingers.
• Autonomic disorders.

Approximately one-third of children present with these symptoms develops articular syndrome. The child has increasing muscular pain, reduced vision, lack of cardiovascular activity. Progression of enzyme insufficiency kidney damage, increased blood pressure. Nevertheless, such a diagnosis is very rare, because it is so important for all forms apply to the professional centres for blood tests at the genetic level.

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Who gets the disease?

Many people wonder how to manifest Fabry disease, what is it? According to studies, doctors came to these conclusions:

• The Disease can develop in humans, regardless of gender.
• The Gene causing the disease is localized in the X chromosome. Men have only one X chromosome, and if it contains the affected gene, the chance of developing symptoms is very large. A man cannot transmit the disease to sons, but all daughters will inherit this defect.
• Women have two X chromosomes, so the probability of transmission of disease to children of either sex is 50/50 %.
• Symptoms often appear in childhood and adolescence, and in young people.
• A Defective gene occurs in one out of 12,000 newborns, that is rare.

Diagnosis

Correct diagnosis often causes difficulties, as the disease is quite rare and manifests a whole range of clinical symptoms. Patients with suspected Fabry disease are tested by clinical specialists of different fields.

Practical experience shows that the initial manifestations of symptoms and the final diagnosis on average it takes about 12 years. It is important to establish the disease as early as possible to get the full treatment.

Providers should suspect the presence of this genetic damage if a person found a combination of more than two symptoms. Early childhood Fabry disease (photo chromosomes below), almost does not occur, so the diagnosis can be complicated.

Diagnosis of the disease in men

For males include:

• Pedigree Analysis, family tree. Given the hereditary nature of the lesion, the main value in the diagnosis of a collecting family history. But members of the same family, the disease may remain undiagnosed.
• Research on the content of the enzyme galactosidase in the blood.
• DNA – is held 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 females implemented the following activities:

• Pedigree Analysis.
• DNA.
• The Content of the enzyme in the blood is not the primary indicator of the disease that is caused by asymmetric activation of the X-chromosomes. It may be in the normal range, even if a woman is present illness.

Prenatal diagnosis

The Study is carried out using measurements of enzyme levels in fetal tissues. This is necessary in case the mother suffers from a genetic disease orthere are suspicions that the baby may inherit Fabry disease. The symptoms of the disease practically does not occur after birth and are felt at a more advanced age.

Potential complications

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

• Acute renal failure. People are constantly losing protein in the urine, that is developed proteinuria.
• Change functions and heart shape. When listening to the revealed leakage of the heart, spasmodic contractions.
• Violations healthy blood flow in the brain. The patient experiences frequent dizziness, a severe complication of getting a stroke.

Treatment

Persons with suspected Fabry disease are referred to specialized centres where there is experience in the treatment of lysosomal diseases of accumulation. In these institutions confirms the presence of pathology and implemented appropriate therapy.

Until 2000, the main therapeutic principle was aimed at overcoming the negative conditions developing during the progression of the disease. At the moment different approaches that help to eliminate not only the symptoms that cause Fabry disease. Treatment consists of enzyme replacement therapy. Patients prescribers alpha-, beta-galactosidase.

Fabry Disease (symptoms and studies which allowed to establish the correct diagnosis) immediate treatment. It is through injection that the patient receives every two weeks. This method can be implemented with nurses in a clinic or at home, if the person tolerates the infusion. Treatment helps to normalize the metabolism, eliminate the recurrence of symptoms, prevent progression of the disease.

The Main drug used for substitution, it is considered ‘Replagal”. The solution is available in bottles with a volume of 5 ml. to be well tolerated, in rare cases the occurrence of side effects: itching, abdominal pain, fever.

If the condition causes severe pain, patients can additionally be administered anticonvulsants, analgesics, nonsteroidal anti-inflammatory funds.

Many experts believe that proper diagnostics and therapy of Fabry disease are able to change the natural course of the disease. Effective use of substitution treatment can stop its development.

Laboratory control

Against the background of the ongoing course necessary to carry out the quantitative determination of ceramictiletonight. If successful, the treatment its concentration reduced. In some clinical studies, the measure of effectiveness is the level of globotriose sphingosine.

Injections are not appointed during pregnancy and lactation if the woman is not present other disease dangerous to life.

Results

Fabry Disease – this is a serious genetic lesions, accompanied by pain that can affect the quality of human life and leading to impaired capacity. Many patients do not receive appropriate treatment, therefore, unable to effectively work, study, complain of a feeling of frustration, fatigue, depression, anxiety.

The Severity of daily symptoms may worsen with progression of the disease, and life expectancy of persons suffering from it, on average 15 years less than the majority of people. But Fabry disease – this is not a sentence, with such disease, provided that substitution treatment can lead a normal life.