Fabry disease is a rare, inherited genetic defect caused by a partial or complete deficiency of a specific enzyme. By the time Fabry disease is diagnosed, most patients have gone through a veritable odyssey. The enzyme alpha-galactosidase (also: alpha-GAL enzyme), which Fabry disease sufferers lack, is responsible for breaking down certain fatty substances in the body.
Breakdown of fatty substances impaired
If this process is disrupted, the substances cannot be digested and broken down by the body. Instead, they accumulate in cells throughout the body.
Such accumulations in blood vessels and tissues can lead to significant malfunctions in major organ systems, for example:
- In the heart
- In the brain
- In the kidneys
In advanced stages, Fabry disease can even become life-threatening for those affected.
Fabry disease: diagnosis not easy
But to diagnose Fabry disease is not always easy. This is because the symptoms are multifaceted, often appearing in childhood or adolescence and changing or intensifying rapidly. Due to its rarity, the disease often goes unrecognized, is misunderstood or even misdiagnosed. Statistically, Fabry disease is not diagnosed until about 25 years later. By then, patients have consulted an average of nine specialists, and their level of suffering is extremely high.
Family history often provides an initial suspicion. To confirm this, a simple blood test that detects the activity of the alpha-GAL enzyme is sufficient in men. In women with the disease, completely normal enzyme levels can be found – despite clear symptoms of the disease. Therefore, a somewhat more complex genetic analysis (duration: 1 to 2 months) is performed in them to establish a definite diagnosis.
Fabry disease: symptoms and signs
These are typical symptoms of Fabry disease:
- Intense, burning pain in the hands and feet that can radiate throughout the body is typical of the disease. They usually occur in childhood and adolescence. The pain can be constant (be chronic) or occur in fits and starts in so-called Fabry crises and then last for minutes or days.
- Most Fabry disease patients sweat little or not at all, which can trigger episodes of fever because the body can no longer regulate its temperature.
- Very often and usually already in adolescence, reddish-purple skin rashes appear in the area between the navel and knees, by which the disease is often recognized. They can be a few millimeters to pinhead size.
- Many Fabry disease patients experience discomfort in the gastrointestinal tract, especially after eating; sometimes diarrhea and nausea are also present.
- Rather in adulthood and as a result of a long-standing disease, there are disturbances in the heart (eg, cardiac arrhythmias, myocardial weakness, coronary artery occlusion) and kidney function decreases (up to the dialysis requirement).
- Damage to the blood vessels in the brain is manifested by dizzy spells and headaches, in the worst case threatens an early stroke.
- In some Fabry disease sufferers appear radiolucencies of the cornea, which, however, do not affect vision and can also serve the initial diagnosis.
Important: Not all Fabry disease patients experience all symptoms (simultaneously). Also, unfortunately, the current absence of a symptom does not mean that it can not still occur. Women often have a milder course of Fabry disease.
