2023-06-05 12:41:38
Osteogenesis imperfecta, called brittle bone disease, corresponds to a incomplete bone formation.
What is osteogenesis imperfecta?
The brittle bone disease is due to an anomaly present in the type 1 collagen protein which acts in particular in the constitution of the skin, teeth, ligaments, bones and bone tissue. People affected by this disease lack collagen – an element that makes up 95% of bone – and therefore have bone fragility.
It’s regarding a genetic disease : 1 person carrying the genetic anomaly has a 1 in 2 risk of having children suffering from osteogenesis imperfecta. However, it happens that two parents who are not carriers of genetic abnormalities see their child develop the disease.
Depending on its severity, the disease has more or less impact on the daily lives of patients: the mildest forms allow an almost normal life (on the sole condition of avoiding risky sports). The most serious forms can be diagnosed during pregnancy or at birth; diagnosis by fetal DNA analysis – very complex and not 100% reliable – is only possible if there is already a patient in the family. Today, research has highlighted the fact that there are several different diseases grouped together under the name of ‘brittle bone disease’. There Lobstein’s disease corresponds to a moderate form of brittle bone disease when we speak of ‘Porak and Durante disease‘ to designate the more severe and deadly forms.
Brittle bone disease: what are the symptoms?
The most frequently observed symptoms:
- Fractures in long bones and flat bones
- Bone deformities
- Frequent spinal deformities (scoliosis)
- Cranial deformities causing headaches (headaches), brisk deep tendon reflexes, cranial nerve damage, facial deformity …
- Small size
- Ligament hyperlaxity (in 2/3 of patients)
Other symptoms may also appear: eye damage (sclera), deafness, nosebleeds, dental damage, cardiovascular abnormalities… The disease presents a very variable severity depending on the patient and all the symptoms are rarely present in the same patient…
Screening before the appearance of clinical signs (fractures) is difficult. This is why most often the diagnosis of osteogenesis imperfecta is performed at the time of walking acquisition. This is where the first symptoms are observed: repeated fractures, blue sclera, osteoporosis, presence of wormian bones observed using skull x-rays…
Before birth, an ultrasound can highlight other symptoms of the disease: curvature of the limbs, fractures, soft skull…
What treatment and what life expectancy when you suffer from brittle bone disease?
There is no treatment for treat osteogenesis imperfecta. However, symptoms can be relieved with various treatments:
- A rehabilitative care allows to fight once morest pain as well as to ensure a good muscular development
- Respiratory physiotherapy improves lung function.
- Good surgical management (in the event of a fracture) stabilizes the bones
Medications are also used to fight once morest bone resorption.
The course of brittle bone disease is extremely variable from patient to patient. As is the case for many other diseases, the earlier the treatment, the more likely it is to observe a less serious evolution.
On observe que fractures decrease with ageespecially in women through the production of estrogen (from puberty to menopause).
Osteogenesis imperfecta: who is concerned?
Brittle bone disease is a rare sickness which concerns approximately 1 person in 15,000. Women and men are equally affected, there is no predisposition linked to geographical origin either. In France, 50 to 60 children with osteogenesis imperfecta are born each year (1 birth in 10,000)*.
The disease most often occurs at the same time as the acquisition of walking, the age at which the first fractures occur. But the disease can also appear during intrauterine life (in the most serious cases) or even in adulthood (in the case of the mildest forms).
*According to the Osteogenesis Imperfecta Association.
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