Associated symptoms

Fabry’s disease is a disease that affects several organ systems at the same time. It is known as a multi-organ disease. The accompanying symptoms are correspondingly different.

Among the most common ones are: Pain in the hands and feet Burning pain in the tips of the body (acres): nose, chin, ears Changes in the skin Kidney damage Heart and vascular diseases Vision problems Digestive tract problems

Pain in the hands and feet area
Burning pain in the tips of the body (acra): nose, chin, ears
Changes of the skin
Kidney damage
Heart and vascular diseases
Visual problems
Complaints of the digestive tract

Many patients with Fabry’s disease are affected by symptoms in the eyes. Characteristically, the cornea becomes cloudy due to fine deposits, but these do not significantly impair vision. The deposits are cream-colored and spread over the cornea in a vortex shape.

This clinical picture is called Cornea verticillata. The lens of the eye can also be affected by the opacities, in which case one speaks of so-called Fabry cataracts. The ophthalmologist diagnoses the changes in the eye by examining the cornea and the lens magnified with a slit lamp.

Changes in the skin are among the typical symptoms of Fabry’s disease. Dark red to dark purple spots often appear, which are distributed over the skin like small wart-like elevations. These are angiokeratomas, a benign skin tumor.

The spots can grow up to several millimeters in size and can appear anywhere on the body.Fabry disease often causes discomfort in the blood vessels, which can lead to circulatory problems in the brain and, in the worst case, to a stroke. The risk for patients with Fabry disease to suffer a stroke before the age of 50 is significantly increased. This makes a stroke, along with kidney failure, one of the main causes of death in Fabry syndrome.

Fabry’s disease is often accompanied by muscle pain. These mainly affect hands, feet and the face (nose, chin, ears). In many cases the burning pain cannot be relieved by conventional painkillers, so in severe cases the doctor prescribes opiates. Often there are also so-called paraesthesias, i.e. sensations of numbness, tingling or formication.