Special feature
The fractures are usually observed in the affected children until puberty. However, the greatest frequency of fractures seems to be in the first growth spurt at about 5 – 8 years of age. After puberty, the fractures stop.
The disease can manifest itself differently in each affected person. Osteogenesis imperfecta (brittle bone disease) is a very heterogeneous and individual disease. There are many people who are only slightly affected and show hardly any symptoms.
An affected person may show some of the symptoms mentioned above, but by far not all of them. The diagnosis is made by means of an X-ray. Since “normal”, i.e. solid bone appears white on the X-ray, and the brittle bone in osteogenesis imperfecta is less dense and therefore appears less white, the disease can be easily diagnosed. In most cases, the tubular bones and the pelvis are deformed.
Therapy of osteogenesis imperfecta
A therapy to cure the disease osteogenesis imperfecta is not possible. Drugs have so far failed to show any significant success in reducing the disease. Patients are administered bisphosphonates (mainly pamidronate) to strengthen the bone substance and thus enable more intensive physiotherapeutic care.
The effect of bisphosphonates in osteogenesis imperfecta has been very well researched and proven, as they are also used in the therapy of osteoporosis. In addition, this therapy relieves bone pain and thus strengthens the children’s motivation for physiotherapy. Bisphosphonates, like any drug, are associated with side effects.
It is especially important to note that bisphosphonates must be taken before breakfast. Since these drugs attack the mucous membrane, patients are not allowed to lie down for half an hour after taking them in order to avoid damage to the mucous membrane of the esophagus by backflow. In addition to the externally applied orthoses for Osteogenesis imperfecta, which are intended to prevent fractures and deformities, there is also the option of surgical therapy for Osteogenesis imperfecta.
Nails are inserted into the bones to stabilize the bones and prevent fractures. The difficulty here is that the growth plate in children should not be injured if at all possible, as otherwise the growth of the bones is disturbed. Especially for this purpose there is the so-called Bailey Dubow nail, which is inserted beyond the growth plate.
These nails consist of two parts and are extendable (comparable to a curtain rod), so that they practically grow with the child. They do not prevent fractures, but keep the bone straight. A great advantage of these nails is that they do not need to be removed and thus remain in the bone for a lifetime.
