Osteogenesis Imperfecta

Osteogenesis Imperfecta (OI) -

Other terms: Brittle of the bones, Lobstein Syndrome, Fragilitas ossioum A genetic disorder in which bones breaks easily. Characterized by:  Weak muscles  Brittle teeth  Curve spine  Loss of hearing

Causes: -

Gene defect : Affects Collagen Inherit the defective gene from one of the parents (50%) Due to mutation, a random gene change Autosomal dominant disease Autosomal recessive disease

Risk Factors: -

Genetics Autoimmune

Epidemiology: -

1 per 20,000 live births 20.000 – 50,000 people affected by OI in the US

TYPES: Type 1 

Collagen is normal quality but produced insufficient quantities - Bone fracture easily - Slight spinal curvature - Loose Joints - Poor muscle tone - Discoloration of Sclera (blue gray color) - Early loss of hearing - Slightly protrusion of the eyes

Type 2 

Collagen is not sufficient quality or quantity - Most cases die within the 1st year of life : respiratory failure intracerebral hemorrhage - Severe respiratory problems: undeveloped lungs - Severe bone deformity and small stature

Type 3 

Collagen is improperly formed. Enough collagen is made but defective - Bone fracture easily before birth - Bone deformity often severe - Respiratory Problems - Short stature, spinal curvature, barrel shape - Loose joints - Poor muscle tone

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Discoloration of sclera Early loss of hearing “PROGRESSIVE DEFORMING TYPE”

Type 4 

Collagen quantity is sufficient but not as high quality - Bone fracture easily, before puberty - Short stature, spinal curvature, barrel chest - Bone deformity - Early loss of hearing

Type 5 

“Mesh-like” bone appearance characterized by : “V Triad” a. Radio opaque band adjacent to growth plates b. Hypertrophic calluses at fracture sites c. Calcification of the radio ulnar interrosseous membrane o Leads to calcification of membrane between 2 forearm bone, making it difficult to turn the wrist o Abnormal amount of large repair tissue (hyperplastic callus) at the site of the fracture

Type 6  

Same clinical features in Type IV “Fish scale” bone appearance

Type 7  

In 2006, a recessive form called “Type VII” A mutation in the gene CRTAP (cartilage associated protein)

Type 8 

Caused by: mutation in the gene LEPRE (leucine proline enriched proteoglycan leprecan)

CLINICAL MANIFESTATIONS: o o o o o o o o o o o o o

Skeletal malformation Short stature Muscle weakness Ligamentous laxity Smooth, thin skin Triangular face Dentinogenesis Imperfecta Blue Sclerae Respirtatory Complications (Pneumonia) Cardiac Complications ( Mitral Valve Prolapse) Hearing Loss Thermal Instability Blood vessel fragility

Pathophysiology

Inadequate amount of collagen

Predisposing Factors

Decrease amount of collagen

Genetic defect

Gene Mutation

Inherited Mutation

Improperly formed collagen

Type I (MILD)     

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Type II (MOST SEVERE)

Bone fracture easily Slight spinal curvature Loose Joints Poor muscle tone Discoloration of Sclera (blue gray color) Early loss of hearing Slightly protrusion of the eyes

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Most cases die within the 1st year of life : respiratory failure intracerebral hemorrhage Severe respiratory problems: undeveloped lungs Severe bone deformity and small stature

Type III (MOST SEVERE) 

Bone fracture easily before birth Bone deformity often severe Respiratory Problems Short stature, spinal curvature, barrel shape Loose joints Poor muscle tone Discoloration of sclera Early loss of hearing “PROGRESSIVE DEFORMING TYPE”

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With treatment (No known Cure) 1. 2. 3. 4.

Preventing Complications Dental Care Physical Therapy Medical Management  Analgesics  Biphosphanates 5. Surgical Mangement  Rodding

Without Treatment Complications: -

Hearing Loss (common Type I and Type III) Heart failure (Type II) Respiratory Problems and Pneumonias Spinal Cord Deformities (paraplegia) Permanent Deformity

RESPONDED

DEATH

Type IV 

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Bone fracture easily, before puberty Short stature, spinal curvature, barrel chest Bone deformity Early loss of hearing

Treatment:    

NO CURE Bone strength Prevent Fracture Independent Mobility -Clinical Trials performed: FOSAMAX (Alendronate)

Physical Aids:   

Crutches Wheel Chairs Splints

Diagnosis:      

Physical Exam Medical History Family History Bone Density Testing X rays Collagen Testing using Skin Biopsy

Prenatal Diagnosis:   

UTZ Chorionic Villlus Sampling Amioncentesis

Surgical Management: 

Surgical Procedure called “rodding”

Medical Management:     

Preventing or minimizing deformity, maximizing individuals ability Physical Therapy Positioning aids Braces and Splints Psychological Counselling  Therapies: o Growth hormone – to stimulated growth o Calcitonin – to aid bone healing o Biphosphate (pamidronate) – to increase bone mass

Nursing Interventions:    

Support limbs, do not pull on arms or legs or lift the legs to prevent more fractures or deformities. Position the patient with care. Check the patient’s circulatory, motor, and sensory abilities. Provide emergency care of fractures.

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Observe for signs of compartment syndrome. Encourage diet high in protein and vitamins to promote healing. Encourage fluids to prevent constipation, renal calculi, and urinary tract infection. Provide care for client with traction, with cast, or with open reduction. Encourage mobility when possible. Administer analgesics as prescribed. Teach the patient preventive measures.

Nursing Diagnosis:       

Chronic Pain Impaired Physical Mobility Risk for Injury Self Care Deficit Impaired Gas Exchange Anxiety Ineffective Coping

Submitted by: Darianne Louviz C. Hernandez BSN IV - INTEGRITY