Tubular phosphate wasting is common and should be treated with phosphate supplementation and calcitriol. Prognosis is generally good in patients with the monostotic form. Polyostotic patients need to be monitored more closely, but as disease has a tendency to stabilize after adolescence, outcomes are often good in adults. Other search option s Alphabetical list. Suggest an update. Summary and related texts. Related genes. Clinical signs. To get in touch with the Orphanet team, please contact Information provided in your contribution including your email address will be stocked in.
Check this box if you wish to receive a copy of your message. Disease definition A rare, benign, primary bone dysplasia characterized by progressive replacement of normal bone and marrow with fibrous connective tissue in either one monostotic or multiple polyostotic bones.
Summary Epidemiology The prevalence is unknown and is difficult to estimate due to the frequent asymptomatic lesions. This irregular tissue can weaken the affected bone and cause it to deform or fracture. In most cases, fibrous dysplasia occurs at a single site in one bone, but can occur at multiple sites in multiple bones.
Single bone involvement usually occurs in adolescents and young adults. People who have more than one affected bone typically develop symptoms before the age of Although fibrous dysplasia is a genetic disorder, it's caused by a gene mutation that's not passed from parent to child.
There's no cure for the disorder. Treatment, which may include surgery, focuses on relieving pain and repairing or stabilizing bones. Fibrous dysplasia may cause few or no signs and symptoms, particularly if the condition is mild.
More severe fibrous dysplasia may cause:. Fibrous dysplasia can affect any bone in the body, but the most commonly affected bones include the following:. Rarely, fibrous dysplasia may be associated with a syndrome that affects the hormone-producing glands of your endocrine system.
Fibrous dysplasia usually occurs in children ages 3 to 15, but it sometimes is not diagnosed until adulthood. Health Home Conditions and Diseases. It often results in one or more, of the following: Bone deformity Brittle bones Pain Uneven growth of bones Any bone can be affected.
The most commonly affected bones include the following: Facial bones Pelvis Ribs Shinbone tibia Skull Thighbone femur Upper arm bone humerus Vertebrae in the spine Some people develop hormonal problems and a condition called McCune-Albright syndrome.
What causes fibrous dysplasia? What are the symptoms of fibrous dysplasia? Symptoms may include: A waddling walk Bone deformity Bone fractures Bone pain which happens when the fibrous tissue expands in the bone Scoliosis a sideways curve of the spine The symptoms of fibrous dysplasia may look like other medical problems.
How is fibrous dysplasia diagnosed? In addition to a complete medical history and physical exam, other tests may include: Biopsy. How is fibrous dysplasia treated?
Specific treatment for fibrous dysplasia will be determined by your healthcare provider based on: Your age, overall health, and medical history Extent of the disease Your tolerance for specific medicines, procedures, or therapies Expectations for the course of the disease Your opinion or preference Surgical treatment may include the following procedures: Placement of a rod down the shaft of the bone Removal of affected bone, followed by bone grafting Removal of bone wedge Other treatment may include: Medicines Pain management Physical therapy Key points about fibrous dysplasia Fibrous dysplasia is a chronic disorder in which scar-like tissue grows in place of normal bone.
As such it is important for doctors to be willing to learn from their patient and be open to collaborating with them. For rare conditions, there is often no clinical pathway to follow as there may not be enough demand or evidence to create one. In these situations clinicians may have to do their own research to understand the disease and create the best treatment plan, or find a more suitable hospital for patients.
After her original doctor left at 21, she felt that her new doctor had a limited understanding of the condition and was too quick to want to operate. Each patient is individual and a good doctor has the ability to consider all the options available and tailor their treatment. Lesson number 4: The best way to understand a condition is to talk to a patient.
For example, the information on some websites suggest that whilst the condition is very disruptive for children and young adults due to the amount of corrective surgery required, it is less problematic for adults as the bones are no longer growing and lesions will not spread. This may be true for some, but due to the variable nature of the disease it is not necessarily the case and some patients may be wheelchair bound.
As with all diseases, patients can be affected in different ways. However, with rare diseases there may not have been enough patient studies conducted to understand these differing manifestations. For example, H described how she feels tired constantly, which I had not come across in my initial research.
However, upon undertaking further research on fatigue and FD, I discovered a recent paper that found that individuals with FD generally have lower levels of energy. Despite being a common symptom, this information is clearly not widespread yet. As with all diseases, taking the time out to talk to individuals with the condition will help future doctors expand their understanding beyond that which can be gained through medical books.
Many things can go wrong with the human body and unfortunately, we may never be experts in all 6,, rare diseases. As more research and awareness campaigns are geared towards rare diseases, it will hopefully become easier to access guidance for many conditions.
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