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Promoting awareness, pioneering research and providing support and information for those affected by Gaucher disease.

Type 1

Type 1 Gaucher disease, the most common form, is often but misleadingly referred to as Adult Gaucher disease. Individuals of all ages can be affected. The defective genes are found in 1 in 100,000 people in the general population. The defective genes are more common among Ashkenazi Jews, occuring in 1 out of every 850 births within this population. Because Gaucher disease does not affect the nervous system, it is sometimes referred to as non-neuronopathic Gaucher disease.

Type 1 Gaucher disease has a particular wide variation in clinical signs, symptoms and disease course. Many people with Type 1 disease have no clinical symptoms and lead normal lives. In some cases, however, the disease may become life-threatening. In general, the later in life first symptoms appear, the less likely it is that the disease will be severe.

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 tendancy for bleeding due to decreased platelets or fatigue related to anaemia. Spleen enlargement is often the most frequent initial finding and may be first recognised 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 be shorter than average and may adopt a swayback posture to support the weight of an enlarged abdomen.

Skeletal symptoms of bone involvement can occur at any time in life: in children as young as 2 years of age, or in adults as old as 70. In more than half of the people with Type 1 Gaucher disease, x-rays reveal a characteristic deformity called the "Erlenmeyer flask deformity" in the thigh bones. The thigh bones have a flaring at the knee (resembling a Erlenmeyer flask), instead of having a normal round shape. Some of the signs and symptoms that may be experienced by people with Type 1 Gaucher disease are shown in the table below.

Signs and symptoms of Type 1 Gaucher disease
  •  Generalised fatigue
 •  Lack of energy and stamina

Abdomen
 •   Enlarged liver and spleen

Skeletal system
 •  Growth retardation in children
 •  Bone pain
 •  Reduced bone density
 • Widening of bones above the knee joint
 • Spontaneous fractures
 •  Acute bone infarctions -"bone crisis"
 •  Bone necrosis (death of tissue)

Blood
 •Increased bleeding tendency such as nosebleeds and bruising
 •  Low levels of:
o Blood platelets
o Red blood cells
o White blood cells
o Elevated levels of acid phosphatase and plasma proteins

Digestive
 •  Loss of appetite
 •  Intestinal complaints

Personal Stories

Living with Type 1: Julie's Story

A Mother's Story: Living with James