Fabry disease is an X-linked recessive disorder that leads to the accumulation of a lipid called globotriaosylceramide in the cells of the body. The condition is rare and affects around 1 in 50,000 males. As an X-linked condition, Fabry disease mainly affects males, although females can also be affected.
Although symptoms generally develop during childhood, they can go unrecognized until later on in adulthood when the vital organs are already involved. Since the disease is progressive and can be life threatening, it is important to diagnose Fabry disease as early as possible. Patients with a family history of Fabry disease should be tested for the condition regardless of their symptom profile.
The steps taken to diagnose this disease are described below.
A presumptive diagnosis can be made based on evaluation of the patient’s symptoms. Typical features of this condition include pain in the hands and feet, dark red spots on the skin called angiokeratomas, a decrease in sweat function (hypohidrosis), opaque cornea, hearing loss, gastrointestinal complaints and tinnitus. The patient is also asked about any family history of the condition or symptoms of the condition among other family members.