- What is Fibrous Dysplasia (FD)?
- What is McCune-Albright Syndrome (MAS)?
- What are the similarities of Fibrous Dysplasia with other diseases?
- What are the Symptoms of Fibrous Dysplasia and McCune-Albright Syndrome?
- Is Fibrous Dysplasia hereditary?
- Why did I get Fibrous Dysplasia?
- The doctor called my Fibrous Dysplasia a tumor. Do I have cancer and can it become malignant?
- The doctor said Fibrous Dysplasia would subside after my teen years. Is this true?
- I often feel pain with my Fibrous Dysplasia but the doctor said there is no pain associated with the disease. Is this true?
- Is there a cure for the disease so I can get rid of Fibrous Dysplasia for good?
- How is Fibrous Dysplasia going to affect my life now and in the future?
- How rare is Fibrous Dysplasia?
- What bones are most affected by Fibrous Dysplasia?
- What types of doctors or specialists are best suited for working with me on this disease?
- At what point should doctors or specialists be consulted?
- What research is being conducted for Fibrous Dysplasia?
- What tests are most commonly performed for Fibrous Dysplasia?
- Does FD or MAS cause problems in pregnancy? Are there special precautions to take?
- Can people with FD or MAS participate in physical activities including contact sports, or should they avoid them?
- Does craniofacial FD pose risks for the brain?
- How can people with FD and MAS treat and manage pain?
- How can people with FD and MAS slow growth of bone lesions?
Fibrous dysplasia (FD) is a bone disease characterized by areas of abnormal growth or lesions in one, several, or many bones. FD can occur in any bone. The skull is frequently affected as are legs, arms, and ribs. The majority (about 70%) of people with FD have only one bone site involved, a condition called monostotic FD. When FD is in more than one bone it is called polyostotic FD or PFD. For more information on FD, read our page About FD, or visit our library of research articles published about FD.
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What is McCune-Albright Syndrome?
FD may occur by itself or in combination with skin and endocrine (hormonal) disease. Patients may have areas of increased skin pigmentation called café-au-lait spots. These birthmarks have irregular borders, and may reflect along the midline of the body. Endocrine problems can include precocious puberty, hyperthyroidism, growth hormone excess, phosphate wasting, and Cushing’s syndrome. Patients can have one or many features of the disease, and these features can occur in any combination. The combination of two or more disease features is called McCune-Albright syndrome (MAS). For more information on MAS, read our page About MAS, or visit our library of research articles published about MAS.
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What are the similarities of Fibrous Dysplasia with other diseases?
There are a number of diseases that have similar sounding names or similar features, but are not fibrous dysplasia. The following provides a brief synopsis of one of these diseases.
Cherubism is a rare, familial, usually painless disorder characterized by enlargement of the upper and lower jaw bones (maxilla and mandible) on both sides of the face (bilateral). The disease is transmitted in an autosomal dominant fashion. Those affected by the disease have unusual chubbiness and swelling of the face. The facial changes can vary considerably from person to person; they can be very mild to severely disfiguring. The facial changes are brought about by overgrowth of fibrous tissue around the jaw bones. The disease starts to appear around age 2 or 3 and continues to grow until the person affected reaches the age of 15-20. The size of the jaw then stabilizes and progressively becomes smaller until it is hardly noticeable. FD and Cherubism have several features in common but differences also exist between these diseases. At times, it can be difficult to tell the difference between the two.
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What are the Symptoms of Fibrous Dysplasia and McCune-Albright Syndrome?
Some people with FD may have no symptoms; the bone lesions may be found only because an X-ray was done for some other reason. Others, especially those with more bones involved, may have many. These symptoms may include pain, enlargement or deformity of the bone, and fractures due to the weakened bone. Very rarely the bone deformities may affect the ability to walk, or the function of nerves in the head that control vision or other senses. Those who have MAS may have a variety of endocrine problems such as early puberty or over-production of thyroid hormones.
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Is Fibrous Dysplasia hereditary?
FD is not hereditary. We did not get FD from our parents and we cannot pass it on to our children. FD is caused by a mutation that occurs sometime during development of a baby while it is still in the mother’s uterus. If the mutation occurs early in development, many tissues may be affected. If it occurs late in development, very few tissues may have the mutation. Because the mutation occurs before birth, FD is considered a genetic disease. But unlike almost all other diseases it is not hereditary because it cannot exist in sperm or egg cells.
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Why did I get Fibrous Dysplasia ?
We do not know why the FD mutation occurs. The gene involved in FD seems to be especially susceptible to mutations. Although FD is rare, it occurs in males and females and in people of all races and from all parts of the world. It is likely that the mutation occurs randomly. There is nothing that a parent can do, either before or during pregnancy, that will cause or prevent the FD mutation from happening.
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The doctor called my Fibrous Dysplasia a tumor. Do I have cancer and can it become malignant?
FD is not cancer. “Tumor” simply means abnormal growth. Tumors can be malignant (cancerous) or benign (non-cancerous). Many people prefer to use to term “lesion” generally meaning any defect to avoid confusion of FD with malignant bone tumors.
Usually, for a cancer to form, several mutations have to occur in the same cell over time. The same mutation that causes FD has been found in a few pituitary cancers and very rarely in different types of cancer. Since most people with FD do not have these cancers, the FD mutation does not seem to cause cancers by itself. It is possible for an FD bone lesion to become cancerous; but this is very rare, occurring in less than 1% of FD cases.
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The doctor said Fibrous Dysplasia would subside after my teen years. Is this true?
Older medical texts often suggested that FD lesions would stop growing once a child reached full adult stature. Many people do experience fewer problems with FD after puberty, especially with FD lesions in the legs and arms. However, some people continue to have problems with their FD beyond puberty and first diagnosis of FD may occur in adulthood.
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I often feel pain with my Fibrous Dysplasia but the doctor said there is no pain associated with the disease. Is this true?
Unfortunately, some older medical textbooks stated that FD lesions are painless and some doctors assume that this is the case. Many people with FD lesions do not have much pain, but many others do. Pain seems to be less common in children than in adults; but anyone with FD can experience pain when a lesion fractures, with surgery or with some other activities. Some have noticed that their pain is worse with certain weather changes.
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Is there a cure for the disease so I can get rid of Fibrous Dysplasia for good?
In general, FD cannot be cured at the present time. The only exception is if there is only one lesion in one bone and that lesion is completely eliminated by surgery. Often there are unidentified FD cells in several bones and it is not possible to eliminate all of these by surgery. Some drug treatments are being identified that significantly diminish bone pain in long bones (arms, legs, ribs) and may cause some good bone to fill in the defects. Bisphosphonate drugs such as alendronate (Fosamax) that is used for treating osteoporosis or pamidronate (Aredia) have been helpful for some people. These drugs are not effective in all people with FD; but researchers are continuing to investigate other possible treatments.
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How is Fibrous Dysplasia going to affect my life now and in the future?
There is no simple answer for this question. The effects of FD are as different as each person who has it. For some people, it has no impact at all, while others are so intensely impacted by FD that they are forced to use a cane or a wheelchair, and have become disabled in some way, such as in partial loss of vision or mobility. Therefore, it is best to know exactly where your FD exists and to regularly monitor its presence with medical check-ups. If you are aware of what is happening to your body, you are in a better position to control or minimize the impact of FD on your life now and in the future.
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How rare is Fibrous Dysplasia?
Among bone tumors, FD is fairly common; but it is a rare disease in the general population. Based on statistics from the FDSOL membership as of 2000, an incidence of one person with FD out of every 15,000 – 30,000 people has been estimated. This estimate includes only people whose FD causes symptoms that lead to a diagnosis using current medical technology. It is difficult to know how many people might have the disease, but will never know it because they don’t experience the complications that lead to a diagnosis. The estimated incidence suggests that between 9,000 and 18,000 people in the US will have a diagnosis of FD in their lifetime.
Any bone can be affected by FD. Patients with only one bone site involved are diagnosed as having monostotic FD while patients with numerous affected bones are diagnosed as having polyostotic FD.
This topic was explored as part of the analysis of the FDSOL database performed in the year 2000. Those registering with polyostotic FD did not have an opportunity to indicate all their affected bone sites when registering, so the study focused on all members who had registered as being diagnosed with monostotic FD only.
The distribution of bone sites for the 318 members with monostotic FD is as follows:
Craniofacial (Head: skull/mandible/facial bones): 46%
Lower limbs (legs/hips/pelvis): 45%
Upper limbs (arm, hand): 6%
Axial skeleton (ribs/spine/clavicle): 3%
An interesting finding from the analysis is that patients diagnosed with monostotic FD were as likely to have the effected bone site in the skull (46%) as with all other bones in the body combined (54%). This appears to be somewhat significant since the skull contains only 29 of the body’s 206 bones and is a proportionately smaller bone mass when compared to the rest of the skeleton. There did not appear to be any difference in the reported bone sites between men and women with monostotic FD.
Rather than one doctor, it may be better to gather a team of medical professionals and service providers to work with you on a treatment plan for your FD, because FD often affects people in different ways. For instance, in addition to your internist or general practitioner, you may need the services of many other specialists based on the seriousness of your particular circumstances and effected areas of the body. The following is a partial list of specialists and related areas of practice: (Please note: this is a suggested list only and does not take the place of medical advice.)
- Jawbone, Skull (facial bones)
- Craniofacial surgeon (with experience in plastic and reconstructive surgery)
- Otolaryngology (ENT or ear, nose, and throat and problems related to sinuses)
- Neuro-opthamologist (to monitor vision and optic nerve issues, and test peripheral vision and depth of field)
- Maxillo-facial surgeon (jawbones, cheekbones)
- Dentist/orthodontist (teeth)
- Bones Below the Neck (arms, legs, spine, ribs)
- Rehabilitation Medicine doctor (physiatrist)
- Physical therapist (exercise/strength training/rehabilitation for overall reconditioning
- Occupational therapist (exercise/training for particular skills)
- Endocrine Issues (body chemistry/hormones, pregnancy)
- Endocrinologist (with specialty in bone-related conditions)
- Obstetrician/Gynecologist (for gynecologic and reproductive issues)
- Pain Management-Anesthesiologist
- Internist/Primary Care physician
- Mental health
- Psychologist (note: meets to discuss emotional issues relating to illness, moods, and/or problem behaviors using cognitive/intellectual methods. May work with a psychiatrist to prescribe medications)
- Primary Care physician
- Stress Management Program (to develop strategies for coping with stress related to chronic illness)
- Alternative Care
- Massage therapist (pain management)
- Acupuncturist (pain management)
- Physical therapist
- Nutrition Counselor/Dietician (to help manage weight issues, issues connected with healthy eating)
- Health Club (for maintaining physical conditioning and to relieve stress)
It is probably best to see specialists shortly after diagnosis to get a complete understanding of what aspects of the disease are present, and which are not. Try and get a sense of your doctor’s experience with FD/MAS or other rare disorders. If he or she is inexperienced (or even if he or she isn’t), it’s often good to get second opinions – especially if a procedure, operation, or medication is being recommended.
The most active centers doing research in FD are the National Institutes of Health (Bethesda, Maryland), INSERM (Lyon, France), Institut National de la Sante et de la Recherche Medicale (Montpellier, France), and Oxford University (Oxford, England).
A total body nuclear medicine bone scan is the best test for getting a picture of what areas are involved with FD. X-rays are often the best for viewing disease in the long bones (legs, arms, etc.). A CT scan is the best way to asses FD in the skull. Ultrasound tests of the thyroid, testicles, uterus and ovaries can sometimes be useful.
Blood tests to asses for levels of phosphorus, calcium, and thyroid hormones are also critical. It is especially important to assess for the presence of excess growth hormone, as this can worsen FD in the skull.
It is important to have vision (including visual fields) assessed by a neuro-ophthalmologist. An assessment of hearing is also useful.
See the Orphanet article found in the library for a detailed list of recommended testing.
Does FD or MAS cause problems in pregnancy? Are there special precautions to take?
Many women with FD/MAS have successful pregnancies. There is no evidence that pregnancy will make FD worse or increase bone pain. Women who have FD involving the spine, ribs or pelvis should consider seeing a high risk obstetrician (maternal-fetal-medicine) during pregnancy.
Women who have a history of precocious puberty continue have ovarian cysts in adulthood. This may lead to irregular and heavy bleeding. It may take these women longer to become pregnant. Consider seeing a fertility specialist if pregnancy is not achieved after 6-12 months of unprotected sex.
Can people with FD or MAS participate in physical activities including contact sports, or should they avoid them?
Patients with FD should use common sense in deciding what physical activities to participate in. Patients with a lot of FD and high risk for fractures should likely avoid contact sports and other high risk activities.
Does craniofacial FD pose risks for the brain?
Craniofacial FD usually does not disrupt the vital structures in the skull, including the vessels, brain, or nerves. Rarely vision and hearing may be affected, so all patients should have these checked yearly.
How can people with FD and MAS treat and manage pain?
When a patient with FD develops pain, the first step is to rule out orthopedic causes, such as fractures, bone cysts, and gait problems. Patients should also be checked for hypophosphatemia, which can worsen bone pain. For pain that is not related to these factors, the first steps in treatment should be conservative measures, including rest, massage, heat or cold packs, and over-the-counter medications such as ibuprofren and acetaminophen. For moderate or severe pain that does not respond to these treatments, intravenous bisphosphonates such as zoledronate and pamidronate may be helpful. These should be given at the lowest dose and frequency needed to control the pain. Because FD is a chronic condition, long-term narcotic medications should be avoided if possible. If these medications are needed, they should be prescribed from a specialist as part of a multidisciplinary pain clinic.
How can people with FD and MAS slow growth of bone lesions?
There are no treatments which can slow growth of the bone lesions in FD. Bisphosphonates may be helpful for bone pain; however there is no evidence that they affect the bone lesions. Uncontrolled growth hormone excess increases growth of craniofacial FD, so screening and treating patients for this is very important.