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What is Fabry disease?
Fabry disease is a rare x-linked lysosomal disorder. In patients with Fabry disease a deficit of the α-galactosidase A enzyme leads to the accumulation of globotriaosylceramide (Gb3) in all the cells of the body, causing the onset of a multi-systemic disease.
The Fabry OMIM (Online Mendelian Inheritance in Man) listing provides an overview of symptoms, clinical features and management, fully referenced with links to research data.
There are over 500 known variants to Fabry disease, often referred to as mutations, which are generally grouped into two sub-types – Classic Fabry and Late Onset Fabry. You can read a summary of the clinical presentation of these two sub-types HERE.
I’m treating a Fabry patient
If you’re treating a patient and would like to discuss their diagnosis or care plan you can contact the doctor in charge of the Fabry Clinic in your state. The signs and symptoms of Fabry disease are many and varied and so the doctor in charge of the Fabry Clinic may not specialise in your area of medicine. Rest assured they will be able to direct your enquiry to a suitable specialist in your field of medicine who is experienced with treating Fabry patients.
How is Fabry transmitted?
As an X-linked genetic disorder, the disease is inherited via the affected X-chromosome. As such, a father with Fabry disease will transmit the gene to ALL of his daughters and NONE of his sons. A mother (having two X-chromosomes, one with Fabry disease and one without) has a 50 percent chance of transmitting the affected X-chromosome to either her sons or daughters. Read more about this HERE.
There are also known cases of spontaneous mutation, meaning that a patient is proven to have the Fabry gene mutation but neither their mother or father has the affected gene.
Fabry Australia ‘Understanding Fabry Disease’ Factsheet
Understanding Fabry Disease booklet was produced by Fabry Australia and reviewed by Fabry Australia’s Medical Advisory Committee. It is an excellent resource for explaining Fabry disease to a new diagnosed patient and their family and or friends. It is a helpful resource to show health professionals unfamiliar with Fabry Disease.