Gaucher Disease Symptoms
 
Note: Most people with Gaucher Disease do not develop all of the following possible symptoms. In addition, the severity of the disease varies enormously.

Generalized Fatigue 

  • Lack of energy and stamina 

Abdomen

  • Enlarged spleen 
  • Enlarged liver 
  • Pain 
  • Compression of the lungs 

Skeletal system 

  • Growth retardation in children 
  • Pain and degeneration of joints and bone-covering tissue 
  • Loss of bone density leading to: 
    • widening of bones along the knee joint 
    • curvature of the bones 
    • spontaneous fractures 
  • Acute bone infarctions - "bone crises" 
  • Bone necrosis (death of tissue) 

Lungs

  • Decreased ability to provide oxygen to the blood 

Kidneys

  • Disruption of normal function 

Skin

  • Yellow-brown pigmentation 
  • Non-raised, round, purplish-red spots, especially around the eyes 

Blood

  • Increased bleeding tendency such as nosebleeds and bruising 
  • Subnormal levels of:
    • blood platelets 
    • red blood cells 
    • white blood cells 
  • Elevated levels of: 
    • acid phosphatase 
    • plasma proteins 

Digestive

  • Loss of appetite 
  • Intestinal complaints