On average, it takes ten years from the first symptom to the correct diagnosis of Fabry disease. During this time, sufferers usually see ten different doctors. When they finally know what is behind their symptoms, it is often both a shock and a relief.

Fabry's disease affects many organs in the body. The symptoms occur at different times and are not equally severe in everyone. Because the disease is rare and the symptoms can vary greatly, it is usually only correctly recognized after many years.

Disease symptoms in women
The gene that causes Fabry disease is located on the X chromosome. Women have two X chromosomes, which means that the healthy gene can partially compensate for the defect. However, studies show that many women still develop Fabry disease - usually later and often milder than men. Without treatment, their life expectancy is also significantly reduced.
More recent studies show that severe organ manifestations can also occur in women, particularly cardiac involvement.

Disease pattern in men 
The clinical picture of Fabry disease in men usually includes early symptoms such as burning pain in the hands and feet, reduced sweat production (hypohidrosis), characteristic skin changes (angiokeratomas) and corneal clouding (cornea verticillata). In the later course, severe organ damage can develop, particularly to the heart (e.g. left ventricular hypertrophy) and kidneys (renal failure), as well as an increased risk of strokes.