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SECTION K: METABOLIC DISORDERS

GAUCHER DISEASE

CONDITION/DISORDER SYNONYMS

  • Glucocerebrosidase deficiency

  • Glucosylceramidase

ICD-9-CM CODE

  • 272.7 Lipidoses

ICD-10-CM CODE

  • E75.22 Gaucher disease

PREFERRED PRACTICE PATTERNS1

  • 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

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.

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

FIGURE 58-1

Gaucher-related skeletal involvement including (A) humerus with chevron or herring-bone pattern; (B) Erlenmeyer flask deformity of the proximal femur; (C) plain radiograph of osteonecrosis of the left hip; (D) MRI of pelvis and thighs performed 2 weeks after bone crisis of the right thigh. Bone edema is seen in the upper part of the femur at the level of lesser trochanter. Chronic marrow signal changes are seen in both femurs; (E) vertebral collapse. (From Kaushansky K, Lichtman MA, Beutler E, Kipps T, Prchal J, Seligsohn U. Williams Hematology. 8th ed. McGraw-Hill. Courtesy of Dr. Ehud Lebel, Shaare Zedek Medical Center, Jerusalem, Israel.)

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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 ...

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