Fabry Disease
GL-3 build-up in the blood vessels associated with the brain and nerves
may cause several different types of symptoms.
Fabry crises (episodic paresthesia) are episodes of severe, burning
pain that starts in the hands and feet and spreads to other parts of
the body. Pain crises are often one of the first signs of Fabry disease
and may be the most disabling aspect of the disease. The painful episodes
may last from minutes to weeks, and are often brought on by stress,
illness, temperature change, or fatigue. Fabry crises may be accompanied
by a fever. In some people, the pain can be eased with prescription
drugs, such as carbamazepine (Tegretol), diphenylhydantoin (Dilantin),
or gabapentin (Neurontin).
Some people may have a chronic burning, tingling pain (acroparesthesia)
in the hands and feet that is not a true Fabry crisis. This pain may
also be brought on by stress, illness, temperature change, or fatigue.
The above medications may also be prescribed for people with this type
of pain.
People with Fabry disease have a higher risk of blood clots (thromboses),
which can cause stroke. The risk of stroke is even higher in people
with Fabry disease who have kidney problems, since they are likely to
have high blood pressure. The risk of blood clots can be lowered with
the use of prescription drugs called anticoagulants (blood thinners).
A daily dose of baby aspirin may also be recommended to reduce the risk
of clotting.
Some people with Fabry disease also have hearing loss and ringing in
the ears (tinnitus).
Other symptoms that can occur due to GL-3 build-up around the brain
and/or nerves include: dizziness, double vision (diplopia), difficulty
with speaking (dysarthria), head pain, unsteadiness while walking (gait
ataxia), and weakness of one arm or leg (hemiparesis).
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