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Condition/Disorder Synonyms

  • Glucocerebrosidase deficiency

  • Glucosylceramidase

ICD-9-CM Code

  • 272.7 Lipidoses

ICD-10-CM Code

  • E75.22 Gaucher disease

Preferred Practice Patterns1

Key Features

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

Clinical Findings

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 ...

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