Eric Shamus, PhD, DPT, PT, CSCS, Amber Yampolsky, MPT, ATP
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CONDITION/DISORDER SYNONYMS
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PREFERRED PRACTICE PATTERNS1
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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
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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.
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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
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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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Type 1: Individuals of Jewish (Ashkenazi) heritage 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
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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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
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)
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MEANS OF CONFIRMATION OR DIAGNOSIS
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Diagnostic Procedures
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Genetic testing
Bone marrow test
Biopsy spleen
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FINDINGS AND INTERPRETATION
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Anemia
Pulmonary hypertension
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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
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Physical impairment
Activity limitations
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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)
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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
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Prevention of future fractures
Adequate control of pain
Improve strength, flexibility, posture, and balance
Decreases risks for falls
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Type 1: Normal life expectancy
Type 2: Life expectancy to 3 years old
Type 3: Life expectancy to 30s and 40s
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2. +
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.
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ADDITIONAL REFERENCES
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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 +
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]