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  • Glucocerebrosidase deficiency
  • Glucosylceramidase

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  • 272.7 Lipidoses

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  • E75.22 Gaucher disease

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Description

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

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Demographics

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  • 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

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Signs and Symptoms

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  • 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

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Functional Implications

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

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Possible Contributing Causes

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  • Genetic disorder
  • Family history

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Differential Diagnosis

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  • 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)

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Laboratory Tests

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