OI Type V in an adult
OI Type V in a child
Same clinical features as Type IV. Distinguished histologically by "mesh-like" bone appearance.
Further characterized by the "V Triad" consisting of a) radio-opaque band adjacent to growth
plates, b) hypertrophic calluses at fracture sites, and c) calcification of the radio-ulnar
interosseous membrane
OI Type V leads to calcification of the membrane between the two forearm bones, making it
difficult to turn the wrist. Another symptom is abnormally large amounts of repair tissue
(hyperplasic callus) at the site of fractures. At the present time, the cause for Type V is unknown,
though doctors have determined that it is inherited.
Type VI
Same clinical features as Type IV. Distinguished histologically by "fish-scale" bone appearance.
Type VII
• In 2005 a recessive form called "Type VII" was discovered. Thus far it seems to be
limited to a First Nations people in Quebec For more information see Mutations in the
gene CRTAP causes this type.
Type VIII
OI caused by mutation in the gene LEPRE1 is classified as type VIII
Treatment
At present there is no cure for OI. Treatment is aimed at increasing overall bone strength to
prevent fracture and maintain mobility.
There have been many clinical trials performed with Fosamax (Alendronate), a drug used to treat
women experiencing brittleness of bones due to osteoporosis. Higher levels of effectiveness
apparently are to be seen in the pill form versus the IV form, but results seem inconclusive The
U.S. Food and Drug Administration (FDA) will not approve Fosamax as a treatment for OI
because long term effects of the drug have not been studied, although it is often used in preteens,
instead of Pamidronate Bone infections are treated as and when they occur with the appropriate
antibiotics and antiseptics.
Physiotherapy
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.Children often develop a fear of trying new ways of moving due to movement being
associated with pain. This can make physiotherapy difficult to administer to young children.
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.
Bisphosphonates
Bisphosphonates (BPs), particularly those containing nitrogen, are being increasingly
administered to increase bone mass and reduce the incidence of fracture. BPs can be dosed orally
(e.g. alendronate) or by intravenous injection/infusion (e.g. pamidronate, zoledronic acid).
BP therapy is being used increasingly for the treatment of OI. It has proven efficiency in
reducing fracture rates in childrenhowever only a trend towards decreased fracture was seen in a
small randomized study in adults While decreasing fracture rates, there is some concern that
prolonged BP treatment may delay the healing of OI fractures, although this has not been
conclusively demonstrated.
Pamidronate is used in USA, UK and Canada. Some hospitals, such as most Shriners, provide it
to children. Some children are under a study of pamidronate. Marketed under the brand name
Aredia, Pamidronate is usually administered as an intravenous infusion, lasting about three
hours. The therapy is repeated every three to six months, and lasts for the life of the patient.
Common side effects include bone pain, low calcium levels, nausea, and dizziness. According to
recent results, extended periods of pamidrinate, (i.e.;6 years) can actually weaken bones, so
patients are recommended to get bone densities every 6 months-1 year, to monitor bone strength.
Surgery
Metal rods can be surgically inserted in the long bones to improve strength, a procedure
developed by Harold A. Sofield, MD, at Shriners Hospitals for Children in Chicago. During the
late 1940’s, Sofield, Chief of Staff at Shriners Hospitals in Chicago, worked there with large
numbers of children with OI and experimented with various methods to strengthen the bones in
these childrenIn 1959, with Edward A. Miller, MD, Sofield wrote a seminal article describing a
solution that seemed radical at the time: the placement of stainless steel rods into the
intramedullary canals of the long bones to stabilize and strengthen them. His treatment proved
extremely useful in the rehabilitation and prevention of fractures; it was adopted throughout the
world and still forms the basis for orthopedic treatment of OI.
Spinal 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.