Osteogenesis Imperfecta


Osteogenesis Imperfecta

Osteogenesis imperfecta or brittle bone disease, a heritable disorder of connective tissue, is the most common of the inherited disorders primarily affecting bone. It is estimated that the prevalence of OI is 1 in 15,000–20,000 infants.
There are approximately 400 individuals with OI in Croatia alone. It is estimated that twice that number is present, represented by individuals with mild OI in whom the diagnosis has not been made. Due to the relatively low number of patients in the general population, treating physicians have limited experience with this disease, either with children or adults. The basis of this disease in European populations is mostly the result of defects in the structure or processing of collagen type I, an important protein of the extracellular matrix of many tissues. Presently, molecular defects in 16 different genes have been discovered to result in at least one type of OI of which 14 are not COL1 mutation loci. Although fractures occurring with no injury or minor injury are the hallmark of OI, other non-mineralized tissues can be affected as well and the pathological changes can be present in skin, tendons, eyes, teeth and blood vessels. Clinical manifestations are very heterogeneous and numerous signs and symptoms such as blue sclera, deafness, abnormal teeth development, joint hypermobility, increased risk of hernias, capillary fragility, aneurysms etc. Although there is no cure for this disease, there are specific therapies that can reduce the pain and complications associated with OI.

Osteogenesis Imperfecta – Diagnosis and testing

Collagen analysis from a skin sample and/or DNA sequencing from a blood sample may confirm a clinical diagnosis. St. Catherine Hospital and its partners are providing genetic testing of OI.

General Treatment of Patients with Osteogenesis Imperfecta

There is not yet a cure for OI. Treatment is directed toward preventing or controlling the symptoms, maximizing independent mobility, and developing optimal bone mass and muscle strength. Care of fractures, extensive surgical and dental procedures, and physical therapy are often recommended for people with OI. Use of wheelchairs, braces, and other mobility aids is common, particularly (although not exclusively) among people with more severe types of OI.

Orthopedic Management of Patients with Osteogenesis Imperfecta

Our orthopedic team is having more than 25 years of experience in treating patients with OI and currently we are performing more procedures that any other hospital in the region. Orthopedic i.e. surgical treatment of fractures and deformities of lower extremity long bones is mainstay of lifelong management. Corrective surgery is crucial for ambulation due to the fact that bowed long bone soon will be fractured on the apex of bow. Amon all other orthopedic procedure our team is using the third generation of telescoping rods is Fassier-Duval (F-D) rod which has the advantage of percutaneous insertion with minimal soft tissue trauma. Specific construction of the F-D rod enables avoiding of knee and/or ankle joint arthrotomy. Telescoping rods are intra-medullary implants which are keeping long bone straight and preventing fractures and one should consider intra-medullary rods as internal splints.


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