Fibrous dysplasia: symptoms and treatment

Fibrous dysplasia is a rare bone disease where bone is replaced by fibrous tissue, weakening it. It can cause pain, fractures or deformities, and in severe cases it requires surgery.

Fibrous dysplasia is a rare bone disease that can affect one or more bones of the body. It is characterized by the abnormal replacement of normal bone tissue by a fibrous tissue, which You can weaken bones and cause deformities. Although it is a benign condition, in some cases it can generate significant complications, such as fractures or mobility problems. This is a non -hereditary bone disorder what happens when a genetic error causes the disorganized growth of bone. Instead of developing a normal and strong bone, the body forms an immature fibrous tissue, which results in structural weakness.

This disease can occur in two main forms:

• Monostotic fibrous dysplasia: It affects a single bone and is the most common form.
• Polyosotic fibrous dysplasia: It affects multiple bones and, in some cases, it can be associated with McCune-Albright syndrome, a rare condition that also includes hormonal alterations and skin spots (milk with milk).

Disease causes and mechanisms

Fibrous dysplasia is caused by a mutation in the GNAS1 genewhich encodes a protein called GSα. This protein participates in the regulation of multiple cellular functions, including bone formation.

The mutation occurs sporadically during fetal development and is not inherited from parents. As a result, affected bone cells proliferate abnormally and generate a less resistant bone.

The impact of the mutation It depends on the number of affected cells and the location of the dysplasia In the skeleton. In some cases, the disease remains stable for years, while in others it can worsen with growth.

Clinical symptoms and manifestations

The symptoms of fibrous dysplasia vary according to severity and affected bones. Some patients may be asymptomatic, while others have significant symptoms.

Most common symptoms:

• Bone pain: It is usually mild, but it can get worse over time.
• Bone deformities: The affected bones can become curved or thickened, especially in the long bones (femur, tibia, humerus).
• Spontaneous fractures: Due to the structural weakness of the bone, fractures can occur with minimal trauma.
• Facial asymmetry: If dysplasia affects the skull or jaw, it can cause abnormal growth and changes in appearance.
• Nervous compression: In cases where dysplasia affects the base of the skull or column, it can compress nerves and cause neurological symptoms, such as loss of vision or audition.

In the Poorostotic form, patients may have additional symptoms due to hormonal alterations, such as early puberty in girls or thyroid dysfunctions.

Is there treatment?

At the moment, There is no definitive cure for fibrous dysplasiabut the treatment focuses on the control of symptoms and the prevention of complications. In the health insurance of Mapfre its wide picture of specialists will help you in diagnosis and monitoring of any ailment you can suffer.

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Medical management

Medical treatment is based on pain control and the prevention of disease progression:

• Analgesics and anti -inflammatories: medications such as paracetamol or NSAIDs (ibuprofen, naproxen) can relieve bone pain.
• Biposphases: drugs such as alendronate can help strengthen bone and reduce pain, although its effectiveness is variable.
• Endocrinological monitoring: In patients with polytotic dysplasia, it is important to evaluate and treat any hormonal alteration.

Surgical treatment

In cases where the disease causes severe deformities or repeated fractures, it may be necessary to resort to surgery:

• Corrective osteotomies: Bone cuts are made to improve alignment and function.
• Internal fixation: Plates, screws or nails are used to reinforce the affected bone.
• Bone grafts: In some cases, bone grafts can be used to improve the resistance of the affected area.

Surgery is indicated when there is a high risk of fractures, intense pain or progressive deformities.

Forecast and quality of life

The prognosis of fibrous dysplasia varies according to the extension of the disease. In many cases, patients can lead a normal life with proper handling of medical pain and monitoring. However, In more serious ways, surgical treatment may be necessary to avoid long -term complications.

Regular monitoring is important with a multidisciplinary team that includes orthopedists, endocrinologists and rehabilitation specialists.

Although it has no cure, there are multiple strategies to control symptoms and improve the quality of life of patients. An early diagnosis and proper management can make a difference in the evolution of the disease.

If you have persistent bone pain or some anomaly in bone growth, it is essential to go to a specialist for adequate evaluation.

What you should know …

• Fibrous dysplasia is a rare bone disease that can affect one or more bones of the body. It is characterized by the abnormal replacement of normal bone tissue by a fibrous tissue, which can weaken the bones and cause deformities.
• In cases where the disease causes severe deformities or repeated fractures, it may be necessary to resort to surgery.
• The prognosis of fibrous dysplasia varies according to the extension of the disease. In many cases, patients can lead a normal life with proper handling of medical pain and monitoring.

Literature

• NIH: fibrous dysplasia, available in NIH.

Posted by Dr. Montserrat Marín Moreno