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Feet and fists, high blood pressure, joint pain, rapid fatigue, no sweating, dark red spots on the skin, neonator changes, kidney problems, enlargement of the left heart chamber, ringing in the ears, early stroke. These are the most common symptoms of Fabry Disease, many of whom are unaware of experiencing hypochondria. On average in Serbia and in other countries, these patients have been waiting for a diagnosis for ten years, they are examined by more than ten specialists and everyone says the same thing – "it is not you".
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Dr. Vesna Radovic Maslarevic, nephrologist of KBC "Zvezdara", explains that it is a non-specific symptom that greatly complicates the diagnosis of this disease.
– All patients with Fabry disease are not identical, there are currently 966 mutations or different possibilities of occurrence of this disease – says Dr. Radovic Maslarevic.
The tingling of the hand and the pain felt by the patients are described as having "gotten hold of a hot ring", have an unbearable pain that lasts for hours.
– There are also gastrointestinal problems, non-specific fatigue, emaciation, an inability to concentrate. Such patients are often called anxiety, depression, and practically at some point doctors, but as a result. They are not initially mentally ill – says Dr. Radovic Maslarevic.
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A rare genetic disease
Fabry disease is a very rare genetic disease, rarely known in Serbia, difficult to diagnose and attacks several organs: heart, kidneys, brain, eyes. It reduces the lives of patients up to 20 years. It is a genetic disorder due to an enzyme deficiency, necessary for lipid metabolism.
– The main feature of the disease is the lack of enzyme alpha galactosidase A, resulting in the gradual accumulation of glycolipids (Gb3) in lysosomal cell organisms, causing lesions to a large number of patients. organs – indicates the doctor.
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Due to the enzymatic defect or modified metabolism of glycosphinolipids, particularly Gb3, the body has an increased number of substrates that can not be broken down, resulting in some thickening in the body.
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In therapy for the rest of your life
If one suspects this disease, the necessary analyzes are very simple and the results wait about a month. Men by the blood control the level of enzymes, while women are needed in addition to these DNA tests and tests. A specific therapy for treating Fabry disease involves exogenous compensation of enzymes produced by recombinant DNA technology.
– This therapy significantly improves the quality of life and slows the disease. It is recommended to men and women with obvious disease and administered by enzyme infusion for two weeks. For Fabry disease, there is an effective treatment registered in Serbia and accessible to patients through the Fund for Rare Diseases. The treatment consists of permanently replacing the enzymes intravenously.
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