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SECTION K: METABOLIC DISORDERS

GAUCHER DISEASE

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Eric Shamus, PhD, DPT, PT, CSCS, Amber Yampolsky, MPT, ATP

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 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 men)
Cushing syndrome or glucocorticoid administration
Hyperthyroidism
Hyperparathyroidism
History of drug abuse or misuse (i.e., alcohol, tobacco, or excessive vitamin D or A)

MEANS OF CONFIRMATION OR DIAGNOSIS

Laboratory Tests

Blood test for enzyme activity, glucocerebrosidase²

Imaging

Spinal and pelvic radiographs, X-ray
CT
Bone scan or radiography
Diagnostic ultrasound (mobile community-based screening)

Diagnostic Procedures

Genetic testing
Bone marrow test
Biopsy spleen

FINDINGS AND INTERPRETATION

Anemia
Pulmonary hypertension

TREATMENT

Medication

Enzyme replacement
- Enzyme infusion for type 1
- Enzyme infusion does not cross blood–brain barrier for types 2 and 3
Stimulation of bone formation
- Bisphosphonates
- Vitamin D, phosphorus, and calcium supplements

REFERRALS/ADMITTANCE

Endocrinologists
Family physicians or general practitioners
Geriatricians
Orthopedists for joint assessment
Genetic counselor
Pharmacists for bone supplements
Occupational therapists for ADL training
Registered dietitians for nutrition

IMPAIRMENTS

Physical impairment
- Chronic or recurrent pain or discomfort
- Hearing impairment
- Heart failure
- Fatigue
Activity limitations
- Self-care
- Mobility
- ADLs
- Work loss or employment restrictions

TESTS AND MEASURES

Vertebral fracture assessment (VFA)
Fall risk assessments: World Health Organization fracture risk assessment tool (FRAX); 10-year risk assessment
Quality of life (QoL) and health-related quality of life (HQoL)

INTERVENTION

Therapeutic exercise
Progressive weight-bearing exercises (ie., aquatic therapy)
Patient education and lifestyle changes
Transcutaneous electric nerve stimulation (TENS)
Manual therapy/joint mobilization with precaution of bone density
Soft tissue massage

FUNCTIONAL GOALS

Prevention of future fractures
Adequate control of pain
Improve strength, flexibility, posture, and balance
Decreases risks for falls

PROGNOSIS

Type 1: Normal life expectancy
Type 2: Life expectancy to 3 years old
Type 3: Life expectancy to 30s and 40s

PATIENT RESOURCES

Children’s Gaucher Research Fund. http://www.childrensgaucher.org. Accessed May 6, 2014.
National Gaucher Foundation. http://www.gaucherdisease.org. Accessed May 6, 2014.

REFERENCES

APTA. Guide to Physical Therapy Practice. American Physical Therapy Association. http://guidetoptpractice.apta.org. Accessed April 20, 2013.

Thomas JA, Van Hove JL. Inborn errors of metabolism. In:Hay WW, Levin MJ, Sondheimer JM, Deterding RR CURRENT Diagnosis & Treatment: Pediatrics. 20th ed. New York, NY: McGraw-Hill; 2011:Chapter 34. http://www.accessphysiotherapy.com/content/6588542. Accessed April 20, 2013.

ADDITIONAL REFERENCES

Biegstraaten M, van Schaik IN, Aerts JM, Hollak CE. “Non-neuronopathic” Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature. J Inherit Metab Dis. 2008;31:337–349.
[PubMed: 18404411]
CrossRef

Chandrasoma P, Taylor CR. Diseases of bones. In:Chandrasoma P, Taylor CR Concise Pathology. 3rd ed. New York, NY: McGraw-Hill; 1998. http://www.accessphysiotherapy.com/content/193568. Accessed April 20, 2013.

Charrow J. Enzyme replacement therapy for Gaucher disease. Expert Opin Biol Ther. 2009;9:121–131.
[PubMed: 19063698]
CrossRef

Dutton M. Cardiovascular physical therapy. In:Dutton M McGraw-Hill’s NPTE (National Physical Therapy Examination). 2nd ed. New York, NY: McGraw-Hill; 2012. http://www.accessphysiotherapy.com/content/5401859. Accessed April 20, 2013.

Dutton M. Differential diagnosis. In:Dutton M Dutton’s Orthopaedic Examination, Evaluation, and Intervention. 2nd ed. New York, NY: McGraw-Hill; 2008. http://www.accessphysiotherapy.com/content/5546939. Accessed April 20, 2013.

Prentice WE. Therapeutic massage. In:Prentice WE, Quillen WS, Underwood F Therapeutic Modalities in Rehabilitation. 4th ed. New York, NY: McGraw-Hill; 2011. http://www.accessphysiotherapy.com/content/8140761. Accessed April 20, 2013.

Zimran A, Gelbart T, Westwood B, Grabowski GA, Beutler E. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. Am J Hum Genet. 1991;49(4):855–859.
[PubMed: 1897529]

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SECTION K: METABOLIC DISORDERS

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GAUCHER DISEASE

CONDITION/DISORDER SYNONYMS

ICD-9-CM CODE

ICD-10-CM CODE

PREFERRED PRACTICE PATTERNS¹

KEY FEATURES

Description

FIGURE 58-1

Essentials of Diagnosis

General Considerations

Demographics

CLINICAL FINDINGS

Functional Implications

Possible Contributing Causes

Differential Diagnosis

MEANS OF CONFIRMATION OR DIAGNOSIS

Laboratory Tests

Imaging

Diagnostic Procedures

FINDINGS AND INTERPRETATION

TREATMENT

Medication

IMPAIRMENTS

TESTS AND MEASURES

INTERVENTION

FUNCTIONAL GOALS

PROGNOSIS

REFERENCES

ADDITIONAL REFERENCES

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Send Email

Jump to a Section

GAUCHER DISEASE

CONDITION/DISORDER SYNONYMS

ICD-9-CM CODE

ICD-10-CM CODE

PREFERRED PRACTICE PATTERNS1

KEY FEATURES

Description

FIGURE 58-1

Essentials of Diagnosis

General Considerations

Demographics

CLINICAL FINDINGS

Functional Implications

Possible Contributing Causes

Differential Diagnosis

MEANS OF CONFIRMATION OR DIAGNOSIS

Laboratory Tests

Imaging

Diagnostic Procedures

FINDINGS AND INTERPRETATION

TREATMENT

Medication

IMPAIRMENTS

TESTS AND MEASURES

INTERVENTION

FUNCTIONAL GOALS

PROGNOSIS

REFERENCES

ADDITIONAL REFERENCES

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PREFERRED PRACTICE PATTERNS¹