Gaucher disease

• Glucocerebrosidase deficiency
• Glucosylceramidase

• 272.7 Lipidoses

• E75.22 Gaucher disease

• 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

Description

• 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

Essentials of Diagnosis

• 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

General Considerations

• Autosomal recessive disease
• Genetic mutation from both parents
• Type 2: acute
• Type 3: chronic

Demographics

• Type 1: Individuals of Jewish (Ashkenazi) heritage are at higher risk
  • An individual can be a carrier and not know it
  • Individuals from eastern and central Europe are at higher risk
• Type 2: infants, any ethnic group
• Type 3: 20 to 40 years of age, northern Swedish decent

Signs and Symptoms

• Fractures
• Bone pain
• Newborn skin changes
• Fatigue
• Anemia
• Nosebleeds
• Enlarged liver
• Enlarged spleen
• Increased clotting time
• Osteoporosis
• Bruise easily
• Lung disease
• Seizures
• Swelling at birth
• Heart valve problems

Functional Implications

• Fatigue with activity
• Cognitive impairment
• Joint pain that limits activity
• Hearing loss
• Increased clotting time

Possible Contributing Causes

• Genetic disorder
• Family history

Differential Diagnosis

• Trauma
• Pathologic fracture from neoplasm
• Osteogenesis imperfecta
• Inadequate mineralization of existing bone matrix (osteoid) or poor bone quality
• Osteoporosis
  • Juvenile osteoporosis occurs in children or young adults of both genders with normal gonadal function
    • Onset typically occurs around 8 to 14 years of age, and hallmarks include rapid onset of bone pain and/or fracture secondary to trauma
  • Type 1 (postmenopausal osteoporosis) typically occurs in women 50 to 65 years of age and is characterized by accelerated bone loss (trabecular bone)
  • Type 2 (age-associated or senile osteoporosis) presents in women and men older than 70 years of age as a result of bone loss associated with the aging process; fractures occur in both cortical and trabecular bones
• Infections (such as tuberculosis)
• Fibrous dysplasia
• Peripheral neuropathy
• Repetitive stress fractures
• Multiple myeloma, lymphoma, or metastatic cancer
• Leukemia
• Renal osteodystrophy
• Hormone deficiency (estrogen in women; androgen in men)
• Cushing’s syndrome or glucocorticoid administration
• Hyperthyroidism
• Hyperparathyroidism
• History of drug abuse or misuse (i.e., alcohol, tobacco, or excessive vitamin D or A)

Laboratory Tests