Dr. Carlos Rebollón
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Osteogenesis imperfecta has many names such as brittle bone disease, imperfect osteogenesis, or brittle bone disorder. All these names refer to the same group of genetic disorders.
Statistics indicate that only 0.0008% of the global population suffers from osteogenesis imperfecta in one of its different types. Although there is no cure for this disease, there are effective treatment options to manage it in the best possible way.
In this informational space, we will clarify the main terms of osteogenesis imperfecta, debunk some myths, and answer the most frequently asked questions on the topic. Join us!
WHAT IS IMPERFECT OSTEOGENESIS?
It is a rare genetic disease caused by the mutation of one or more genes involved in the synthesis of type I collagen, which is an essential component for bone strength.
Osteogenesis imperfecta causes bone fragility, leading to bones breaking more easily and with minimal effort. This disease manifests from the moment of conception and persists throughout the affected person’s life.
TYPES OF IMPERFECT OSTEOGENESIS AND THEIR SYMPTOMS
There are approximately 17 types of osteogenesis imperfecta known, but the modern classification identifies 5 main types:
Imperfect Osteogenesis type I, also known as Ekman Lobstein disease, is the most common and mild among all types. Affected individuals reach adulthood with an average height and may progressively develop generalized osteoporosis, increased bone fragility, and recurrent fractures. This type is attributed to the mutation of genes such as COL1A1, COL1A2, BMP1, PLS3, P3H1, or SP7.
Imperfect Osteogenesis type II (or Vrolik disease) is the most severe type, capable of causing death in neonates shortly after birth. These newborns may have extremely brittle bones, short stature, deformities in various parts of the body, blue sclerae, hearing loss, and severe respiratory problems. Genes involved in this type include COL1A1, COL1A2, P3H1, CRTAP, CREB3L1, BMP1, or PPIB.
Symptoms of the disease range from moderate to severe, allowing for a progressively changing prognosis. There is significant bone fragility, malformations in the bones of the spine, arms, legs, short stature, and hearing loss. It is generally associated with genes such as COL1A1, COL1A2, CRTAP, BMP1, P3H1, FKBP10, SERPINF1, FAM46A, CREB3L1, among others.
Clinical manifestations can vary from mild to moderate and severe, including generalized osteoporosis, bone fragility, deformities, dentinogenesis imperfecta, short stature, and blue sclerae. Genes implicated in this type include COL1A1, COL1A2, PPIB, PLS3, WNT1, SPARC, TMEM38B, CRTAP.
Moderate imperfect osteogenesis characterized by ossification of the interosseous membrane of the forearm and the appearance of hypertrophic calluses after a fracture or surgery. It is mainly attributed to a mutation in the IFITM5 gene.
DIAGNOSIS OF OSTEOGENESIS IMPERFECTA
Usually, imperfect osteogenesis can be diagnosed through a detailed medical history and physical examination, with a focus on bone length or cranial circumference.
The specialist may also support their conclusion by conducting genetic tests, audiometry, bone density tests, or X-rays.
In perinatal conditions, the diagnosis is often different. When imperfect osteogenesis is moderate or severe, it can be detected through prenatal ultrasound between the 18th and 24th weeks of pregnancy.
If one or both parents or close relatives have the disease, the doctor may suggest a DNA test to confirm or rule out the presence of genetic mutations associated with imperfect osteogenesis. In this case, the pregnant woman may undergo amniocentesis or chorionic villus sampling to analyze fetal cells.
If imperfect osteogenesis is not detected during prenatal screening, doctors may notice characteristic signs after birth.
CAUSES OF IMPERFECT OSTEOGENESIS
Imperfect Osteogenesis is a completely genetic and hereditary disease, with the main trigger being a failure or mutation in the genes involved in the synthesis of type I collagen.
TREATMENTS FOR IMPERFECT OSTEOGENESIS
Imperfect Osteogenesis is a lifelong condition. Therefore, both conservative and surgical treatments focus on preventing and managing symptoms to delay disability and improve the quality of life for each patient according to their specific needs.
These are the most frequently applied treatment methods for individuals with osteogenesis imperfect:
Among the pharmacological options for imperfect osteogenesis, the use of controlled doses of bisphosphonates stands out. This substance was originally used for osteoporosis but has shown very good results in slowing down bone loss in children and adults. It is also important to carefully monitor vitamin D and calcium levels throughout the patient’s life.
Imperfect Osteogenesis is a disease that gradually leads to disability, so physiotherapeutic support should be present at all times. Therapies promote patient independence by employing muscle strengthening routines to maintain the functionality of most body structures.
Most patients with imperfect osteogenesis require orthopedic supports at some point in their lives to reduce damage and provide the necessary support to their legs, spine, or joints, facilitating their daily activities.
It is common for individuals with imperfect osteogenesis to undergo surgical procedures to correct various bone deformities or address hearing problems caused by the disease.
FREQUENTLY ASKED QUESTIONS ABOUT IMPERFECT OSTEOGENESIS
Imperfect osteogenesis is a disease that must be treated. Although sometimes the onset of symptoms may be delayed, eventually the bone fragility will become evident, and fractures and deformities characteristic of the condition will begin to appear.
Conditions like imperfect osteogenesis require a multidisciplinary approach involving specialists in medicine, orthopedics, physiotherapy, and rehabilitation to achieve a favorable prognosis for the patient.
As a genetic condition that accompanies a person from conception, imperfect osteogenesis is practically impossible to prevent. As mentioned earlier, when the disease is diagnosed during pregnancy, actions can be taken to make the labor process as least traumatic as possible for the newborn.
Additionally, it is essential for parents to educate themselves on how to care for and handle a baby with brittle bones.