Fabry disease is an inherited genetic disease that affects the glycosphingolipid metabolism. The classical form is characterized by the absence of the enzyme alpha-galactosidase A and mainly affects males. It is in fact linked to an anomaly of the GLA gene, present in the X chromosome. It is estimated that the disease affects about 1-5 people per 100,000. Nevertheless, there is reason to believe that the real prevalence is much higher.

The first symptoms appear between 4 and 10 years and are acute pain accompanied by burning and tingling. Going forward, neurological, cutaneous, renal, cardiovascular and cerebrovascular symptoms are added. Fabry sufferers suffer from transient stroke and ischemic attacks. Furthermore, it is common for renal functions to deteriorate and so are cardiac functions. This happens due to the accumulation of sphingolipid sugars, caused by the deficiency of the enzyme alpha-galactosidase A.

Diagnosis of Fabry disease occurs through clinical observation and measurement of enzyme levels. Often the method is not conclusive and genetic analysis is necessary. In the event that one of the two parents is a healthy carrier, prenatal diagnosis is available for male fetuses. A dosage of the enzymatic activity is carried out and, if necessary, it is passed to genetic counseling.

Traditional treatments involve the use of analgesics to control pain and anti-arrhythmic drugs. In severe cases, it is necessary to intervene with renal transplantation and dialysis. Although there is no resolution therapy, the treatments available today are essential to ensure patient survival. Without them, the subjects incur a deterioration in the quality of life and have less chance of survival.

Source: orpha.net