Find out about your own medical history.
You can learn a lot of information from genetic testing and talking with family members.
NEXT: MEDICAL HISTORYPrevalence and impact
Some signs and symptoms of Fabry disease
Organ damage
(heart and kidney)
By adulthood, many people with Fabry disease will have serious heart, kidney, or nervous system problems in addition to the symptoms described below.
Chronic pain
Burning, tingling pain that mainly affects the hands and feet is the most common symptom of Fabry disease and is often the first symptom that brings children and adolescents to their doctor.
Eye abnormalities
(corneal whorling)
Another common sign of Fabry disease is corneal whorling, a distinctive starburst pattern on the cornea that does not typically affect vision.
Impaired sweating
Heat and cold
intolerance
Gastrointestinal
problems
Skin condition
(angiokeratomas)
Children may experience recurrent fever, and children and teens may suffer from heat and cold intolerance, gastrointestinal problems, and reddish or purple spots on the skin (angiokeratomas) often found in the "bathing trunk" area.
How is Fabry disease passed down in families?
Fabry disease affects people of all ages and ethnic backgrounds. It is typically inherited, which means that parents with Fabry disease can pass it down to their children.
Fabry disease runs in families, so when 1 person is diagnosed, an average of 5 additional relatives may also be affected.
- Both males and females can be affected by Fabry disease as both sexes have at least one X chromosome
- This pattern of inheritance is important because many patients with Fabry disease endure many years of unmanaged symptoms and misdiagnoses. Tracing Fabry disease within a family has the potential to shorten the time to an accurate diagnosis
Inheritance of Fabry disease
Creating Your Medical Family Tree
The first step in tracing Fabry disease in your family is creating a Medical Family Tree. A Medical Family Tree can help you understand the inheritance pattern in your family and the risk of passing on Fabry disease. A geneticist, genetic counselor, or Sanofi Genzyme CareConnectPSS® Patient Education Liaison (PEL) can help you create a Medical Family Tree and consider a family discussion.
PSS=Personalized Support Services.
Example of a Fabry Disease Medical Family Tree
Each patient’s
Fabry disease
journey is unique
If Fabry disease is diagnosed early, doctors can begin appropriate management of your symptoms. Don’t wait. Get the facts to help you and your family identify and manage Fabry disease. One-on-one assistance through a range of resources, programs, and other support offerings is available through Sanofi Genzyme CareConnectPSS.
Speak with a Patient Education Liaison today.
CONNECT NOWPSS=Personalized Support Services.
