Fabry disease is an X-linked recessive disorder, meaning the condition is caused by a gene defect present on the X chromosome. Males who inherit the gene defect on their single X chromosome experience a more severe form of the disease compared with females, who may also inherit a normal X chromosome.
The symptoms of Fabry disease generally begin in childhood and the condition is estimated to affect around 1 in 50,000 males. Since the disease is rare, initial non-specific symptoms may be difficult to identify as signs of the disease can go unrecognized until later on in adulthood when the vital organs are already involved.
Some features of Fabry disease are described below:
Kidney damage is a common feature of Fabry disease. Initially, proteinuria develops which causes foamy or frothy urine. Over time, the kidney health deteriorates further and end stage kidney failure is a common cause of death.
Build up of the glycolipid globotriaosylceramide in cells of the heart can cause cardiac complications. These complications worsen with age and increase the risk of heart disease as well as high blood pressure and cardiomyopathy.
Dark red spots called angiokeratomas may develop on the skin and commonly occur on the thighs, buttocks, groin, lower abdomen and around the umbilicus.
Clouding of the cornea may occur, also referred to as cornea verticillata or vortex keratopathy. This does not usually affect the vision. In addition, there may be aneurysms over the conjunctiva, posterior cataracts, optic atrophy, dilated retinal blood vessels and papilledema.
Nervous system and brain
Fabry disease can also lead to complications such as hearing loss, vertigo, neuropathy, tinnitus and even stroke.
Reviewed by Sally Robertson, BSc