Type 1
Type 1 Gaucher disease, the most common for, is often but misleadingly
referred to as adult Gaucher disease. Individuals of all ages can be
affected. The defective genes are found in fewer than I in 40,000 people in the
general population. The defective genes are more common among Ashkenazi Jews,
occurring in 1 out of every 400-600 births within this population. Because Type
I Gaucher disease does not affect the nervous system, it is sometimes referred
to as non-neuronopathic Gaucher disease.
Perhaps the most common sign of Type 1 Gaucher disease is
an enlargement of
the spleen and/or liver. Overactivity of the enlarged spleen may result in an
increased tendency for bleeding due to decreased platelets or fatigue related to
anemia. Spleen enlargement is often the most frequent initial finding and may be
first recognized when the child is as young as 6 months. The spleen may become
sufficiently enlarged to affect the child's mobility and to attract attention. A
child with severe disease may he shorter than average and may adopt a swayback
posture to support the weight of an enlarged abdomen.
an enlargement of
the spleen and/or liver. Overactivity of the enlarged spleen may result in an
increased tendency for bleeding due to decreased platelets or fatigue related to
anemia. Spleen enlargement is often the most frequent initial finding and may be
first recognized when the child is as young as 6 months. The spleen may become
sufficiently enlarged to affect the child's mobility and to attract attention. A
child with severe disease may he shorter than average and may adopt a swayback
posture to support the weight of an enlarged abdomen.