Diagnosis and Treatment

FIN encourages and support research into the causes, treatment and management of Fabry disease, but most importantly to assist Fabry affected and their families and caregivers to arrange for, co-ordinate and increase the facilities available for diagnosis, consultation and treatment of those suffering from Fabry disease.

The diagnosis of Fabry disease like any other rare disorder is the first and most critical and frustrating challenge for any one with a rare disorder. You cannot treat what you do not know.

The good news is that about 6 years ago, enzyme replacement therapy (ERT) was developed approved to treat those affected with Fabry but at a very high costs. Enzyme replacement treatment has not yet been approved in all parts of the world. FIN supports and encourages all countries to provide ERT at an early age to prevent organ failure and other devastating affects of Fabry.

Biochemical and genetic diagnosis of Fabry disease is performed in specialized laboratories. Alpha-galactosidase A (alpha-gal A) activity is usually determined. Clinical samples mostly used for the enzymatic test are blood and skin fibroblasts. Molecular genetic tests are also performed on blood.

Identification of the mutations responsible for Fabry disease also enables prenatal and postnatal testing and allows the provision of genetic counseling.

Males with the faulty gene will transmit the disease to all of their daughters.
Males do not transmit the disease to their sons.
Females with the faulty gene have a 50% chance (during each pregnancy) of transmitting the faulty gene to their children.
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