Osteogenesis Imperfecta

Osteogenesis ImperfectaIn 1835, LOBSTEIN coined the term osteogenesis imperfecta and was one of the first to correctly understand the etiology of the condition.The earliest known case of osteogenesis imperfecta is in a partially mummified infants skeleton from ancient Egypt now housed in the British Museum in London. Other names:OILobstein diseaseBlue-sclera syndromeBrittle Bone DiseaseFragile-bone disease

What is Osteogenesis Imperfecta?imperfectly formed bone.is a condition causing extremely fragile bones.is a congenital disease.meaning it is present at birth.is frequently caused by defect in the gene that produces type 1 collagen.important building block of boneAutosomal dominantdisease.if you have ONE COPY of the gene, you will have the disease.most cases of OI are inherited from parent.has a 50% chance of passing on the gene and the disease to their children.

Types of Osteogenesis ImperfectaType I Osteogenesis Imperfectaonly 50% of the collagen being produced, the patient's bones are predisposed to fracture.most common and mildest type of this disease. While the structure of the collagen is normal, there is less collagen than there should be. There is little or no bone deformity, although the bones are fragile and easily broken. Type II Osteogenesis Imperfectaonly 20% of the normal amount of collagen being produced due to malformation.the most severe form of the disease. The collagen does not form properly. Bones may break even while the fetus is in the womb. Many infants do not survive.

Type III Osteogenesis Imperfectaalso has improperly formed collagen and often severe bone deformities, plus additional complications. The infant is often born with fractures. Type IV Osteogenesis Imperfectais moderately severe, with improperly formed collagen. Bones fracture easily, but the whites of the eyes are normal. Some people may be shorter than average and may have brittle teeth. Bone deformities are mild to moderate.

Clinical ManifestationsBone fracturesBone deformityShort heightLoose joints

muscle weaknessSclera (whites of the eyes) may have a blue, purple, or gray tint)Triangular faceTendency toward spinal curvature

Brittle teethHearing lossBreathing problems

Type I: Stature should not be affected muchVery mild to no bony deformitiesTeeth may be brittle and easily brokenTinted sclerae that may appear to be slightly blue, grey, or purpleType II:Soft, large craniumMicromelia: long bones that are crumpled and bowed; ribs beaded.Respiratory problems that can lead to deathType III:

The whites of the eyes may be white, blue, purple, or gray. Very short statureLarge skullTriangular faceEasily fractured bonesSevere osteoporosis ScoliosisBarrel-shaped chestTeeth may be brittle and easily brokenPossible hearing lossMay have spinal deformities, respiratory complications, and brittle teeth.

Type IV: Sclera are normalTriangular shaped faceTeeth may be brittle and fracture easilySkin may be thin and smoothPossible hearing lossBruises easilyMay perspire excessively"Mild to moderate skeletal fragility and osteoporosisAssociated bowing of long bonesJoint Hyperextensibility

Cause:due to a genetic defect that causes imperfectly-formed and inability to make strong bones an inadequate amount of bone collagen a protein found in the connective tissue.Risk Factor:A family with a history of OI.PathophysiologyAutosomal dominant or recessive inheritanceMutation change occurs in the DNAReticulum fails to differentiate into mature collagen immature,coarse bone formation and cortical bone thinningfragile bones break easilyabnormal collagen development

Treatment(Nonsurgical Treatment)

Medication.Medical bisphosphonatesby mouth or intravenously, slow down bone resorption, reduces the number of fractures and bone painmust be administered by properly trained doctors and require close monitoring.Immobilization.Casting, bracing, or splinting fractures is necessary to keep the bones still and in line so that healing can occur.Exercise.movement and weight bearing are encouraged as soon as the bone has healedwill increase mobility and decrease the risk of future fractures.Psychological counseling

Surgical Treatment

Rodding.Metal rods may be inserted in the long bones of the arms and legs to help reinforce the bone, and subsequently lessen the number of fractures. Some rods are a fixed length and must be replaced as a child grows. Other rods are designed like telescopes, and they expand as a child's bones grow.

Spinal fusion for scoliosis.Although bracing is the usual treatment for scoliosis, it is not often effective in children with osteogenesis imperfecta because the ribs will become deformed from the brace, without preventing the scoliosis from worsening. Spinal fusion, a surgery in which the bones of the spine are realigned and fused together, may be recommended when the scoliosis becomes severe.

Nursing Diagnoses

PainImpaired physical mobilityRisk for injuryRisk for infectionSelf-care deficitKnowledge deficitImpaired gas exchangeAnxietyIneffective individual coping

Nursing InterventionsSupport 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 patients circulatory, motor, and sensory abilities.Provide emergency care of fractures.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.Monitor hearing needs.Aggressively teach all upper respiratory infections including colds.

The condition is most often diagnosed by: x-rayshistory of frequent fractures with minimal traumagenetic testing of a blood sample (DNA blood test)bone density scan (DXA)

Physiotherapy

used to strengthen muscles and improve motility in a gentle manner, while minimizing the risk of fracture. This often involves hydrotherapy and the use of support cushions to improve posture. Individuals are encouraged to change positions regularly throughout the day in order to balance the muscles which are being used and the bones which are under pressure.

Physical aids

With adaptive equipment such as crutches, wheelchairs, splints, grabbing arms, and/or modifications to the home many individuals with OI can obtain a significant degree of autonomy.

SURGERYMetal rods can be surgically inserted in the long bones to improve strengththe placement of stainless steel rods into the intramedullary canals of the long bones to stabilize and strengthen themextremely useful in the rehabilitation and prevention of fracturesSpinal fusion can be performed to correct scoliosis, although the inherent bone fragility makes this operation more complex in OI patients. Surgery for basilar impressions can be carried out if pressure being exerted on the spinal cord and brain stem is causing neurological problems

How to Prevent Osteogenesis ImperfectaOI is caused by a genetic defect has a 50% chance of passing the disease to his or her children. Through. genetic counseling, OI can be prevented from being passed from one generation to another.healthy lifestyle with exercise and good nutrition. Avoid smoking and excessive alcohol consumption, which may weaken bone and increase fracture risk.