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GAUCHER DISEASE
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CONDITION/DISORDER SYNONYMS
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PREFERRED PRACTICE PATTERNS1
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4A: Primary Prevention/Risk Reduction for Skeletal Demineralization
4C: Impaired Muscle Performance
4F: Impaired Joint Mobility, Motor Function, Muscle Performance, Rom, and Reflex Integrity Association with Spinal Disorders
4G: Impaired Joint Mobility, Muscle Performance, and Rom Associated with Fracture
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PATIENT PRESENTATION
A 36-year-old female recently had a fall resulting in a fracture of her right radius/ulna. She was walking and became tired and had pain in her knees causing her to fall. Her X-ray revealed generalized osteoporosis. Abdominal CT was positive for an enlarged liver and spleen. Laboratory CBC showed anemia. She reports that she has had generalized pain in her legs for about 2 years and that she bruises easily. She works as a cashier and has had difficulty tolerating her shifts due to the need for prolonged standing. Her PMH is positive for asthma. Upon examination patient was found to have decreased hamstring length with popliteal angle = 50 degrees bilaterally, decreased hip strength = 4/5 for abduction and extension, decreased hamstring strength = 3+/5. No tenderness to palpation and no edema but she complained of generalized pain in BLE’s 4/10 on Visual Analogue Scale. The pain is intermittently present at rest but fairly consistent with activity.
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Lysosomal storage disorder (LSD)2
Called a storage disease
Lipid cells are stored in the liver and spleen causing enlargement
Genetic disorder where there is a lack of enzyme glucocerebrosidase2
Bruising, fatigue, and liver/spleen enlargement
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Essentials of Diagnosis
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Juvenile form: There may be increased swelling at birth
Three subtypes: Types 1, 2, and 3
Type 1: Most common
Type 2: Neurologic involvement in babies; fatal
Type 3a and 3b: Neurologic; liver, spleen, lung involvement
Can be tested through blood or saliva
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General Considerations
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