How is Fabry disease diagnosed?
When do the symptoms occur?
Many people experience symptoms of Fabry disease in early childhood - perhaps even at the age of four, but it is often difficult to recognize this as Fabry's disease. The most common symptoms in children are pain and problems with heating as a result of physical exercise.
These signs and symptoms are often misunderstood and sometimes even ignored. The symptoms can be attributed to other factors or diseases. For example, the fatigue of a child can be attributed to lack of sleep; the fact that the child does not want to do sports can be attributed to lack of interest, or pain episodes to growing pains. Symptoms are generally present in childhood; they must only be recognized.
When do the symptoms occur?
Many people experience symptoms of Fabry disease in early childhood - perhaps even at the age of four, but it is often difficult to recognize this as Fabry's disease. The most common symptoms in children are pain and problems with heating as a result of physical exercise.
These signs and symptoms are often misunderstood and sometimes even ignored. The symptoms can be attributed to other factors or diseases. For example, the fatigue of a child can be attributed to lack of sleep; the fact that the child does not want to do sports can be attributed to lack of interest, or pain episodes to growing pains. Symptoms are generally present in childhood; they must only be recognized.
How is diagnosis made in Fabry patients?
It may not be possible to determine whether someone has Fabry disease by simply looking at him or her, but the diagnosis can be made at any time, even before birth. If a doctor or medical professional thinks or suspects that someone has Fabry disease, the diagnosis can be confirmed by special tests, including a blood test.
This test measures the level of the enzyme α-galactosidase A. In female patients suspected of having Fabry disease, a DNA analysis can be useful to confirm the diagnosis of the disease.
Because Fabry disease is a rare condition, the general public and also the medical world are not very aware of the disease.
As the symptoms and severity of the disease worsen with age, early identification and diagnosis could help to improve the course and quality of life of patients with Fabry disease.
Ask your doctor or geneticist for a test for Fabry disease and for information and advice related to prenatal diagnosis.
