HOW CAN FABRY DISEASE BE DIAGNOSED

Fabry disease can be extremely heterogeneous even within the same family group. The classical form of the disease appears already in infancy with peripheral neurological symptoms and then progressively involves the kidney, heart, central nervous system as age advances. This degenerative process may take on various forms and result in an endless number of situations; the age of onset of signs and symptoms and their severity vary greatly. In some cases, only one organ may be affected, such as the heart; in other cases the disease is characterised by unbearable pain and low organ (kidney, heart, brain) involvement.

The family of an affected person should not underestimate the evolution of the disease, which can be rapid and irreversible, and they should consult a doctor that has experience in treating Fabry disease.