Fabry disease is a hereditary disease that can manifest itself with a variety of symptoms. The severity of the latter varies depending on the overall health of the patient, his immunity, lifestyle and some other factors.
Fabry's disease - what is it?
Lysosomal accumulation diseases are the common name of one large group of rare hereditary ailments, which are caused by a violation of the function of lysosomes. Just in this category is Fabry's disease. It is associated with a decrease in the activity of α-galactosidase, a lysosome enzyme, which is responsible for the cleavage of glycosphingolipids. As a consequence, fats accumulate in excess in cells and interfere with their normal functioning. As a rule, suffer endothelial or smooth muscle cells of blood vessels, kidneys, heart, central nervous system, cornea.
Fabry's disease is a type of inheritance
This ailment is considered genetically determined with an X-linked type of inheritance. That is, Fabry's disease is transmitted only on the X-chromosomes. Women have two, and therefore the anomaly can be inherited by both the son and daughter. The probability of a child with a genetic deviation in this case is 50%. In men, there is only one X chromosome, and if it is mutated, Anderson Fabry's disease will be diagnosed in their daughters with a probability of 100%.
Fabry's disease - causes
This is a genetic disease, and therefore the main cause of its appearance are mutational changes in GLA-genes - responsible for the encoding of the enzyme. According to statistics and the results of numerous medical studies, the lysosomal Fabry accumulation disease is hereditary in 95% of cases, but there are exceptions. 5% of patients "earned" a diagnosis at the initial stages of embryo formation. This was due to random mutations.
Fabry disease - symptoms
Signs of the disease in different organisms manifest themselves in their own way:
- The men. In representatives of the stronger sex, Anderson-Fabry disease, as a rule, begins to manifest itself from childhood. First signs: pain and burning in the extremities. Some patients complain of the appearance of a crimson rash, which in most cases covers the area from the navel to the knees. As the disease progresses slowly, serious symptoms - abdominal discomfort, ringing in the ears , frequent urge to bowel movement, back and joint pain - become discernible only by 35 to 40 years.
- Women. In the female body, the disease shows a wide range of clinical manifestations. While some patients are unaware of their problem, others suffer from corneal dystrophy, fatigue, cardiovascular disorders, anhidrosis, gastrointestinal disorders, kidney disease, eye damage, neurological disorders.
- Children. Although in most cases the first symptoms of an illness appear early, Fabry's disease in children often goes unnoticed and develops to a conscious age. The earliest signs are pain and angiokeratomas, which are often located behind the ears and are overlooked by specialists. Other manifestations of the disease in small patients: nausea with vomiting, dizziness, headaches, fever.
Fabry disease - diagnosis
Only the patient's complaints for diagnosis are not enough for a specialist. To determine Fabry's disease, tests should be taken. The activity of α-galactosidase can be seen in plasma, leukocytes, urine, tear fluid. Differential diagnosis must necessarily be carried out taking into account hereditary hemorrhagic telangaectasia.
Fabry disease - treatment
Since the beginning of the 2000s, physicians have been actively using substitution therapy in the fight against Fabry's disease. The most popular medicines are Replagal and Fabrazim. Both medications are administered intravenously. The effectiveness of the drugs is almost the same - they minimize pain, stabilize the kidneys and prevent the development of renal or cardiac chronic insufficiency.
Fabry's syndrome can also be suppressed by symptomatic treatment. Ankonvulsants help to relieve pain:
- Diphenine;
- Gabapentin;
- Carbamazepine;
- Pregabalin.
If patients develop kidney problems, they are prescribed ACE inhibitors and angiotensin II receptor blockers:
- Enap;
- Ramipril;
- Losartan;
- Lysinopril;
- Valsartan;
- Prestarium;
- Irbesartan.
Fabry's disease - clinical recommendations
The fight against this syndrome is a difficult and time-consuming process. Positive results of therapy are waiting for some patients for several weeks, but Fabry's disease, the symptoms and treatment described above, can be prevented. To prevent the birth of a child with a mutated gene, experts advise to carry out perinatal diagnostics, which consists in studying the activity of α-galactosidase in amniotic cells.