Fabry disease - Leidensweg diagnostics

Fabry disease is a rare heritable genetic defect that is triggered by a partial or complete deficiency in a particular enzyme. Until Fabry disease is diagnosed, most patients have a veritable odyssey behind them. The enzyme alpha-galactosidase (also: alpha-GAL enzyme), which is missing the Fabry disease, is responsible for the breakdown of certain fatty substances in the body.

Disruption of fatty substances disturbed

If this process is disturbed, the substances can not be digested and degraded by the body. Instead, they deposit themselves in the cells of the entire body.

Such accumulations in blood vessels and tissues can lead to significant malfunction in important organ systems, for example:

  • in the heart
  • in the brain
  • in the kidneys

In the advanced stage, Fabry disease can even be life-threatening for those affected.

Fabry disease: diagnostics not easy

But diagnosing Fabry disease is not always easy. For the symptoms are multifaceted, often appear even in childhood or adolescence, change or reinforce quickly. Because of its rarity, the disease often remains unrecognized, misunderstood or even misdiagnosed. Statistically, the diagnosis of Fabry disease is not made until about 25 years. Until then, patients have consulted on average nine medical specialists, and their suffering is extremely high.

Often the family history gives a first suspicion. To confirm this, in men a simple blood test that detects the activity of the alpha-GAL enzyme is sufficient. In diseased women - despite clear disease symptoms - normal enzyme levels can be found. Therefore, for a clear diagnosis a somewhat more complex genetic analysis (duration: 1 to 2 months) is performed.

Fabry disease: symptoms and signs

These are typical symptoms of Fabry disease:

  • Typical of the disease are intense, burning pains in the hands and feet that can radiate throughout the body. They usually occur in children and adolescents. The pain can persist (chronic) or occur in an episodic manner 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 fever, as the body can no longer regulate its temperature.
  • Very often, and usually already in adolescence, there are reddish-purple rashes in the area between the navel and knees, at which the disease is often recognized. They can be a few millimeters to pinhead size.
  • Many Fabry disease patients have ailments in the gastrointestinal tract, especially after food intake; sometimes diarrhea and nausea are added.
  • Rather, in adulthood and as a result of an already existing disease it comes to heart disorders (eg cardiac arrhythmia, myocardial insufficiency, coronary artery occlusion) and renal function is reduced (up to dialysis duty).
  • Damage to the blood vessels in the brain is expressed by dizziness and headache, in the worst case threatens an early stroke.
  • Some patients with Fabry Disease experience radiating cloudiness of the cornea, but this does not affect their vision and can also be used for initial diagnosis.

Important: Not all Fabry disease patients experience all the symptoms (simultaneously). Unfortunately, the current absence of a symptom does not mean that it can not be set yet. Women often have a milder course of Fabry disease.

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