Fabry's disease is a rare congenital syndrome that causes the abnormal accumulation of fat in blood vessels, causing the development of symptoms such as pain in the hands and feet, changes in the eyes or spots on the skin, for example.
Generally, the symptoms of Fabry's disease appear during childhood, but in some cases, the disease can only be diagnosed during adulthood, when it begins to cause changes in the functioning of the kidneys or the heart.
Fabry's disease has no cure, but it can be controlled with the use of some medicines to prevent the development of symptoms and the appearance of complications, such as kidney problems or stroke.
Symptoms of Fabry's disease
Symptoms of Fabry's disease can appear early in childhood and include:
- Pain or burning sensation in the hands and feet; Dark red spots on the skin; Changes in the eye that do not affect vision; Abdominal pain; Alteration of intestinal transit, especially after eating; Back pain, especially in the kidney region.
In addition to these symptoms, Fabry's disease can cause, over the years, other signs related to progressive lesions caused in some organs, such as eyes, heart or kidneys, for example.
Diagnosis of Fabry disease
The diagnosis of Fabry's disease can be made through blood tests to assess the amount of enzyme responsible for eliminating excess fat that accumulates in the veins. Thus, when this value is low, the doctor may suspect Fabry's disease and order a DNA test to correctly identify the disease.
Treatment for Fabry disease
Treatment for Fabry's disease helps to control the onset of symptoms and prevent the development of complications, which can be done with:
- Carbamazepine: helps to reduce the sensation of pain or burning; Metoclopramide: decreases bowel function, preventing changes in intestinal transit; Anticoagulant remedies, such as Aspirin or Warfarin: make blood thinner and prevent the appearance of clots that can cause strokes.
In addition to these remedies, the doctor may also prescribe remedies for high blood pressure, such as Captopril or Atenolol, as they prevent the development of kidney damage and prevent the onset of complications in these organs.
