What is Fabry’s disease?
Fabry disease (Fabry syndrome, Fabry disease or Fabry-Anderson disease) is a rare metabolic disease in which an enzyme defect is caused by a gene mutation. The consequence is a reduced breakdown of metabolic products and their increased storage in the cell. As a result, the cell is damaged and dies.
As a result, the organs are damaged and this leads to the typical symptoms of Fabry’s disease. The disease is transmitted from sick parents to their children via the X chromosome. The disease is not yet curable and sick people often have a significantly reduced quality of life.
The causes
The cause of Fabry’s disease is a missing enzyme, α-galactosidase A. α-galactosidase A occurs within the cells in certain compartments, the lysosomes, where it is needed for the cleavage of glycosphingolipids. Glycosphingolipids are a group of sugary fats which are needed for the construction of the cell. As a result of a genetic defect, patients suffering from Fabry’s disease do not have this enzyme at all or not in sufficient quantities, which causes various metabolic products (especially globotraosylceramide) to accumulate within the cells and damage them.
As a result, the cell dies and organ damage and functional disorders occur. This type of disease is called lysosomal storage disease, because the metabolites in the cell accumulate within the lysosomes. Fabry disease is inherited X-linked.
The mutated gene coding for α galactosidase is located on the X chromosome and is inherited by the offspring. Sons of sick fathers are healthy because they only get the Y-chromosome from the father, whereas daughters are always sick because they inherit the X-chromosome. Because sick men have only one X chromosome with the defective gene, the disease is much more severe in them than in women. Women also have a second X chromosome, which can partially compensate for the defect.
The accompanying symptoms
Fabry’s disease is a disease that affects several organ systems at the same time. It is known as a multi-organ disease. The accompanying symptoms are correspondingly different.
Among the most common ones are: Pain in the hands and feet Burning pain in the tips of the body (acres): nose, chin, ears Changes in the skin Kidney damage Heart and vascular diseases Vision problems Digestive tract problems
- Pain in the hands and feet area
- Burning pain in the tips of the body (acres): nose, chin, ears
- Changes of the skin
- Kidney damage
- Heart and vascular diseases
- Visual problems
- Complaints of the digestive tract
Many patients with Fabry’s disease are affected by symptoms in the eyes. Characteristically, the cornea becomes cloudy due to fine deposits, but these do not significantly impair vision. The deposits are cream-colored and spread over the cornea in a vortex shape.
This clinical picture is called Cornea verticillata. The lens of the eye can also be affected by the opacities, which are then called Fabry cataracts. The ophthalmologist diagnoses the changes in the eye by examining the cornea and the lens magnified with a slit lamp.
Changes in the skin are among the typical symptoms of Fabry’s disease. Dark red to dark purple spots often appear, which are distributed over the skin like small wart-like elevations. These are angiokeratomas, a benign skin tumor.
The spots can grow up to several millimeters in size and can appear anywhere on the body. Fabry’s disease often causes discomfort in the blood vessels, which can lead to circulatory problems in the brain and in the worst case to a stroke. The risk for patients with Fabry’s disease to suffer a stroke before the age of 50 is significantly increased.
This makes a stroke, along with kidney failure, one of the main causes of death in Fabry syndrome. Many patients with Fabry’s disease suffer from muscle pain, some of which is severe. The pain mainly affects hands, feet and the face (nose, chin, ears). In many cases the burning pain cannot be relieved by conventional painkillers, so in severe cases the doctor prescribes opiates.Frequently, so-called paraesthesias also occur, which are sensations of numbness, tingling or formication.
