As Type 1 Gaucher disease does not affect the nervous system, it is sometimes referred to as non-neuronopathic Gaucher disease.
Type 1 Gaucher disease has a particularly 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 the 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. 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. Overactivity of the enlarged spleen may result in an increased tendency for bleeding due to decreased platelets or fatigue related to anaemia. 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 instead of having a normal round shape.
More information can be found in our Type 1 Information Booklet which can be downloaded here.
General
• 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
• Low levels of blood platelets, red blood cells, white blood cells, and/or elevated levels of acid phosphatase and plasma proteins
• Increased bleeding tendency such as nosebleeds and bruising
Digestive
• Loss of appetite
• Intestinal complaints