Fabry - Rare disease

Fabry disease is a disease related to fat storage disorder, with genetic nature and the cause of Fabry disease is a deficiency of alpha - Galactosidase enzyme as well as a deficiency of GlA in the patient's body. Fabry disease causes disadvantages to the patient's body such as paresthesias in the extremities, kidney failure, heart failure... so it is necessary to consult a doctor as soon as there are suspicious signs.

Fabry disease, also known scientifically as Sponge Lipidosis, is an inherited metabolic disorder, characterized by alpha-Galactosidase deficiency, which causes a number of pathological conditions such as keratolytic angioma, corneal clouding fasciitis, paresthesia of the extremities, kidney failure, heart failure... Fabry disease is considered a very rare genetic disease in clinical practice, originating from the group of disorders of Lysosome storage disorder, that is, the lysosomes in the muscle can be prevented from carrying out the complex process of breaking down fat, so it is gradually accumulated along with the molecules that are not broken down, making the cells in the body unable to perform their functions.
Fabry disease causes fat storage cells in the body called Globotriaosylceramide GL-3 to exist in the heart cells, kidneys, autonomic nervous system as well as eye organs. After the accumulation of GL-3 in the body, the cells and organ tissues will begin to be damaged. According to some studies, Fabry disease usually affects more men than women because the gene that causes the disease is linked to the X chromosome, but women can still get Fabry disease, but the symptoms will be mild. than men with the disease.

Symptoms of Fabry disease can appear at an early age or during development in a patient, each age has different symptoms as follows:
Childhood / from adolescence to adolescence
Peripheral nerve pain in hands and feet Small spots on the skin, dark in color Decrease in some functions of the nervous system such as increased sweating leading to impaired kidney and heart function Teenage age :
Pain and numbness in the extremities Appears in some veins shaped like a spider's web in some places in the body such as eyes, ears... Puffiness on the upper eyelids begins to show up. Small spots on the skin appear. dark color, especially appearing in the hip and knee position of patients with corneal dystrophy Digestive system symptoms such as abdominal pain, frequent defecation, cramps... Young age:
Static Spider veins appear denser Swollen legs, lymphedema Angioedema Hemangiomas, small black spots begin to appear on the skin Sweating decreases but symptoms begin to appear response of difficulty regulating body temperature

Adults:
Patients with cardiovascular problems, in which typically arrhythmias Cerebrovascular accident Kidney disease Diseases sclerosis Old age:
Damage to small blood vessels will reduce the function of some organs in the body, including the kidneys Loss of self-control Difficulty in regulating body temperature Significant reduction in sweating, in some cases may not sweat Some other symptoms can be seen in patients with Fabry disease are:
Shortness of breath Chronic bronchitis Wheezing Osteoporosis Dizziness, tinnitus Body fatigue Restlessness, anxiety In addition to the above clinical symptoms, to strengthen In order to diagnose Fabry disease, the patient needs to perform a number of other laboratory tests including:
Enzyme test: take a blood sample to investigate the activity level of the alpha-Gal A enzyme in the body's white blood cells. . Genetic testing Biopsy: usually done in some organs in the patient's body such as kidneys, skin... Cranial magnetic resonance imaging in case of suspected signs of myocardial infarction or stroke

To treat Fabry disease, there are currently many methods that have been studied and applied in practice on patients, namely the following methods:
Enzyme replacement therapy:
Agalsidase with Agalsidase Alpha is Alpha-Gal A enzyme substitutes, capable of similar activity to this enzyme, are introduced into the body to address the deficiency of alpha-Gal A enzyme which is the main cause of Fabry's disease. This substance is introduced into the patient's body by intravenous injection twice a week
Medical treatment:
Some drugs are used to treat the symptoms of Fabry disease as follows: Anticonvulsants, treatment numbness in hands and feet in patients: Carbamazepine, Phenytoin Drugs to treat gastrointestinal symptoms: Metoclopramide Drugs to stabilize alpha-Gal A enzyme levels to combat dysfunction: Migalastate Other methods:
Some methods Other methods used to treat Fabry's disease such as dialysis and kidney transplantation in cases where the patient develops damage related to kidney function

Fabry disease is a genetic disease with a very low clinical incidence but affects many organ systems in the body, so patients should not be subjective before this disease but need to be monitored. If you have any suspicious signs, you should immediately go to a reputable medical facility to be examined and detected Fabry disease promptly.
Periodic health check-ups help to detect diseases early, so that there are treatment plans for optimal results. Currently, Vinmec International General Hospital has general health checkup packages suitable for each age, gender and individual needs of customers with a reasonable price policy.
The patient's examination results will be returned to the home. After receiving the results of the general health examination, if you detect diseases that require intensive examination and treatment, you can use services from other specialties at the Hospital with quality treatment and services. outstanding customer service.