The Debilitating Curse of Fibrous Dysplasia

Updated on August 27, 2018
Angel Harper profile image

Angel was diagnosed with fibrous dysplasia in the left leg at a young age and has had to live with it her entire life.

Fibrous dysplasia makes it easier for bones to deform and fracture.
Fibrous dysplasia makes it easier for bones to deform and fracture. | Source

What Is Fibrous Dysplasia?

Fibrous dysplasia (FD) is a rare bone disorder that often only occurs in a single bone (monostotic FD; about 70% of cases), but rarer cases can affect multiple bones throughout the body (polyostotic FD; roughly 30% of cases). In place of bone marrow, fibrous, scar-like tissue forms, weakening the bone and potentially causing disfigurement and fractures.

FD was first described in 1938 by Dr. Lichtenstein and later in 1942 by Drs. Lichtenstein and Jaffe, who reported 15 cases of the disorder. It usually begins manifesting during childhood or adolescence but can go unnoticed for years, delaying diagnosis. It often isn't treated until adulthood.

Although any bone can be affected, the fibrous dysplasia mostly affects the following bones:

  • Femur (Thighbone)
  • Tibia (Shinbone)
  • Skull
  • Pelvis
  • Ribs
  • Hands
  • Humerus (Upper arm bone)
  • Spine

I have three lesions in my femur and one in my left shinbone. I consider myself quite lucky because FD in the skull, ribs, or hands can cause serious disfigurement and is a lot more painful. However, it also means that my entire left leg is essentially held up by weak bones with tumour-like growths.

Micrograph of fibrous dysplasia (right) juxtaposed with unaffected bone (left).
Micrograph of fibrous dysplasia (right) juxtaposed with unaffected bone (left). | Source

What Causes Fibrous Dysplasia?

The cause of FD is not entirely known although scientists have linked it to a mutation of the GNAS1 gene that occurs after fertilisation. It is neither heritable nor contagious. Scientists do not know why the mutation occurs.

The GNAS1 gene encodes part of a protein called a G-protein. As a result of the mutation, this protein is overproduced, leading to an overproduction of cyclic adenosine monophosphate (cAMP) that regulates the function of osteoblasts (bone-forming cells). It is speculated that improper differentiation of these osteoblasts is one of the factors that causes FD.

Related disorders include:

Source

What Are the Symptoms of Fibrous Dysplasia?

There are many varying symptoms of FD including:

  • Bone pain
  • Swelling
  • Deformity
  • Bone fractures—especially in the arms and legs
  • Curvature of leg bones
  • Scoliosis
  • A waddling walk

The seriousness of these symptoms varies from person to person and depends on the severity of their condition. My own experience has been a fortunate one. I have only experienced mild to moderate bone pain and back pain as a result of bad posture and a slight curvature of my left femur. For many, FD can be a great source of pain and discomfort while for others, it can go undiagnosed for their entire lives.

How Rare Is It?

Studies estimate that one in every 15,000-30,000 have FD. Since many are undiagnosed, it is difficult to calculate exactly how many people are born with this disorder.

An analysis conducted by FODSL (Fibrous Dysplasia Support On-Line) in the year 2000 described which bones monostotic FD affects the most (using data from 318 members of their online website).

Results From a Study of Monostotic FD Patients

Location
Example
Percentage of Members
Craniofacial
skull, mandible, facial bones
46%
Lower limbs
legs, hips, pelvis
45%
Upper limbs
arms, hands
6%
Axial skeleton
ribs, spine
3%
The online support group studied 318 members who were diagnosed with only monostotic fibrous dysplasia to determine which body parts the disorder affected most often.

These results suggest that for monostotic FD, the craniofacial and lower limb areas were the most common places for the disorder to manifest. The study did not include those with polyostotic FD as it is in multiple areas for them. There appeared to be no differences in results for participants of varying genders, ethnic backgrounds or locations.

Is There a Cure for Fibrous Dysplasia?

Although there is no cure for FD, symptoms can be treated as they arise. To prevent fractures, surgery is often recommended if the lesions grow to such a size that the bones become greatly weakened. Similarly, if the bone does fracture, surgery may be required to treat it.

Roughly 40% of patients with FD suffer from other related medical complications, such as insufficient levels of calcium, phosphorus, and vitamin D, as well as problems with the thyroid, kidney, liver, and skin. Most of these can be treated with a regular intake of supplements, such as vitamin D tablets.

I have recently had blood tests to see if I have any other complications. I also participate in physiotherapy sessions to improve my walking.

Overall, my own experience with fibrous dysplasia has been fine. I'm fortunate that I don't have a severe case like so many others do. I want to raise awareness of the condition, and I hope that research will continue to solve the mysteries of why people have it and how to cure it.

© 2018 Angel Harper

Comments

    0 of 8192 characters used
    Post Comment

    • Angel Harper profile imageAUTHOR

      Angel Harper 

      3 weeks ago

      FlourishAnyway, thanks for reading and commenting! The way I found out about my FD was pretty strange. Although I felt no pain, one day around the age of 9 or 10 I simply woke up limping! It was odd because there didn't seem to be anything wrong with me. A friend suggested that I should get an x-ray, so I did. Doctor's weren't sure what it was but said that it could be cancer. Later I had an MRI which is when I received my diagnosis of Fibrous Dysplasia. I didn't get any noticeable symptoms until adolescence.

    • FlourishAnyway profile image

      FlourishAnyway 

      3 weeks ago from USA

      I’m sorry you have this condition and thank you for publicizing it. How did your case become known and diagnosed, if you don’t mind answering, since many cases go unnoticed?

    working

    This website uses cookies

    As a user in the EEA, your approval is needed on a few things. To provide a better website experience, healdove.com uses cookies (and other similar technologies) and may collect, process, and share personal data. Please choose which areas of our service you consent to our doing so.

    For more information on managing or withdrawing consents and how we handle data, visit our Privacy Policy at: https://healdove.com/privacy-policy#gdpr

    Show Details
    Necessary
    HubPages Device IDThis is used to identify particular browsers or devices when the access the service, and is used for security reasons.
    LoginThis is necessary to sign in to the HubPages Service.
    Google RecaptchaThis is used to prevent bots and spam. (Privacy Policy)
    AkismetThis is used to detect comment spam. (Privacy Policy)
    HubPages Google AnalyticsThis is used to provide data on traffic to our website, all personally identifyable data is anonymized. (Privacy Policy)
    HubPages Traffic PixelThis is used to collect data on traffic to articles and other pages on our site. Unless you are signed in to a HubPages account, all personally identifiable information is anonymized.
    Amazon Web ServicesThis is a cloud services platform that we used to host our service. (Privacy Policy)
    CloudflareThis is a cloud CDN service that we use to efficiently deliver files required for our service to operate such as javascript, cascading style sheets, images, and videos. (Privacy Policy)
    Google Hosted LibrariesJavascript software libraries such as jQuery are loaded at endpoints on the googleapis.com or gstatic.com domains, for performance and efficiency reasons. (Privacy Policy)
    Features
    Google Custom SearchThis is feature allows you to search the site. (Privacy Policy)
    Google MapsSome articles have Google Maps embedded in them. (Privacy Policy)
    Google ChartsThis is used to display charts and graphs on articles and the author center. (Privacy Policy)
    Google AdSense Host APIThis service allows you to sign up for or associate a Google AdSense account with HubPages, so that you can earn money from ads on your articles. No data is shared unless you engage with this feature. (Privacy Policy)
    Google YouTubeSome articles have YouTube videos embedded in them. (Privacy Policy)
    VimeoSome articles have Vimeo videos embedded in them. (Privacy Policy)
    PaypalThis is used for a registered author who enrolls in the HubPages Earnings program and requests to be paid via PayPal. No data is shared with Paypal unless you engage with this feature. (Privacy Policy)
    Facebook LoginYou can use this to streamline signing up for, or signing in to your Hubpages account. No data is shared with Facebook unless you engage with this feature. (Privacy Policy)
    MavenThis supports the Maven widget and search functionality. (Privacy Policy)
    Marketing
    Google AdSenseThis is an ad network. (Privacy Policy)
    Google DoubleClickGoogle provides ad serving technology and runs an ad network. (Privacy Policy)
    Index ExchangeThis is an ad network. (Privacy Policy)
    SovrnThis is an ad network. (Privacy Policy)
    Facebook AdsThis is an ad network. (Privacy Policy)
    Amazon Unified Ad MarketplaceThis is an ad network. (Privacy Policy)
    AppNexusThis is an ad network. (Privacy Policy)
    OpenxThis is an ad network. (Privacy Policy)
    Rubicon ProjectThis is an ad network. (Privacy Policy)
    TripleLiftThis is an ad network. (Privacy Policy)
    Say MediaWe partner with Say Media to deliver ad campaigns on our sites. (Privacy Policy)
    Remarketing PixelsWe may use remarketing pixels from advertising networks such as Google AdWords, Bing Ads, and Facebook in order to advertise the HubPages Service to people that have visited our sites.
    Conversion Tracking PixelsWe may use conversion tracking pixels from advertising networks such as Google AdWords, Bing Ads, and Facebook in order to identify when an advertisement has successfully resulted in the desired action, such as signing up for the HubPages Service or publishing an article on the HubPages Service.
    Statistics
    Author Google AnalyticsThis is used to provide traffic data and reports to the authors of articles on the HubPages Service. (Privacy Policy)
    ComscoreComScore is a media measurement and analytics company providing marketing data and analytics to enterprises, media and advertising agencies, and publishers. Non-consent will result in ComScore only processing obfuscated personal data. (Privacy Policy)
    Amazon Tracking PixelSome articles display amazon products as part of the Amazon Affiliate program, this pixel provides traffic statistics for those products (Privacy Policy)