Specialists consider that osteogenesis imperfecta is more than a disease, a group of rare disorders that have a genetic basis and that fundamentally affect the bones.
“Osteogenesis imperfecta is a generalized disease, which is conditioned by a genetic alteration, located in the genes that intervene in the production of type I collagen, a fundamental protein in the formation and development of bones” explains the doctor santos castanedaspokesman for the (SER) and rheumatologist at the University Hospital of La Princesa.
“In fact, this disease has long been known as “glass bone disease”, because such is the frequency of fractures that patients present throughout their lives that the person seems to be made of this material” adds the specialist.
Bones that break with the lightest blow, or even break spontaneously, if nothing causes the bill.
Symptoms of osteogenesis imperfecta
The main sign that this pathology is present are the bone fractures it causes. But it is not the only symptom.
The alteration of type I collagen that causes this disease also affects other organs, such as the skin, ligaments and tendons, teeth, hearing, heart valves, etc.
And as a consequence of this it causes other symptoms such as:
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Growth deficit.
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Muscular weakness.
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Defects in the formation of teeth (dentinogenesis imperfecta).
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Scoliosis.
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Bluish sclera.
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Macrocephaly.
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Hearing loss (hearing loss).
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Ligament hyperlaxity.
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cardiovascular complications.
All these symptoms cause osteogenesis imperfecta to cause disability and significantly affects the quality of life of the patient.
As Dr. Santos Castañeda explains, those affected face a “high risk of fractures both in the axial skeleton (vertebral column) and in peripheral areas (humerus, femur, hip, ribs, wrist, etc.) with their logical consequences, which they often appear at an early age.”
But not only that, “the patient with OI can have other complications such as deafness, teething disorders with chewing problems and, above all, vascular complications that can clearly compromise their quality of life”, adds the SER rheumatologist.
An underdiagnosed disease
Expert estimates indicate that between 5 and 7 people out of 100,000 suffer osteogenesis imperfect. Although Dr. Isabel Pavón, from the Endocrinology and Nutrition Service of the Getafe University Hospital, affirms that “it is certainly an underdiagnosed pathology, especially in its milder forms.”
And there are at least 5 or 6 different clinical forms of the disease. “The most serious are lethal and patients die shortly after birth. While other less serious forms are those that reach adulthood, the patient being diagnosed late,” explains Santos Castañeda.
And it is that bone connective tissue diseases are a mixed bag where a host of different diseases or pathologies are included, and it is not always easy to put the appropriate label
“There is also the added problem of genetic studies, which are only carried out in specialized and infrequent centers, which makes a correct and “on time” diagnosis even more difficult, all of which means that the disease is really underdiagnosed, especially in less serious cases and later onset”, concludes this expert.
That is why publicizing the disease and its symptoms is vital to detect the disease early.
Dr. Pavón recalls that “in an adult with unexplained bone fragility, with frequent fractures, when they are too young to have age-related osteoporosis or menopause, secondary causes of osteoporosis must be ruled out, including osteogenesis imperfecta. Clinical data such as the presence of deformities of the spine and extremities, blue sclera, dentinogenesis imperfecta and hearing problems can help us to suspect it”.
There is no curative treatment
Currently, there is no curative treatment for osteogenesis imperfecta. It only remains to provide all possible information about the disease to the patient and family, as well as the complications that may arise.
In the case of repeated bone breaks, “the most general recommendation is treatment with bisphosphonateseither oral or intravenous, thus minimizing the risk and allowing a more normal life”.
“The treatment of the rest of the complications will be directed by the corresponding specialists of each affected organ, which requires a versatile approach and a multidisciplinary approach in the treatment of these patients,” says Dr. Santos Castañeda.