Research Article Emphasizes the Importance of Screening for Patients with FD/MAS for Pain

Pain in people with FD/MAS is common and can come and go. While not every person with FD/MAS experiences FD-related pain, every person who seeks help for FD/MAS pain should be taken seriously. 

Among many clinicians, there has been a longstanding and misinformed belief that FD/MAS does not cause pain. This idea has been refuted, most recently in a publication from researchers in the US and UK, which included Drs. Tiahna Spencer, Alison Boyce, and Kassim Javaid. Their dual registry study, “Neuropathic-like Pain in Fibrous Dysplasia/McCune-Albright Syndrome” examined the frequency and types of pain experienced by people diagnosed with FD/MAS. 

The study gathered and analyzed patient-reported data from the FD/MAS Patient Registry alongside the UK-based Rare and Undiagnosed Diseases (RUDY) study. The resulting article serves as a peer-reviewed and published call for pain screening in all those who suffer from FD/MAS. “The findings in this paper have changed the way I care for my patients,” said Dr. Alison Boyce, of the NIH and FD/MAS Alliance Medical Advisory Council Chair, “All patients with FD/MAS should be screened for different types of pain.”

In addition to being an important peer-reviewed resource focused on pain for the FD/MAS community, this is also an exciting milestone for the FD/MAS Patient Registry. “The study would not have been possible without the data provided by patients and caregivers in the FD/MAS Patient Registry,” said Dr. Boyce, “Pain is by definition patient-reported data and the Registry is the largest cohort of FD/MAS patients reporting their data in the world.”

Here are some key components for patients and caregivers to understand from the article:

What is pain?

Pain is an unpleasant sensory or emotional experience associated with actual or potential tissue damage. There are three types of pain:

• Nociceptive Pain: This can occur at the tissue damage level, like a cut on our skin or a broken bone. It is often described as sharp, stinging, aching, or throbbing. This pain is necessary and gives useful information to our bodies to prevent damage.
  
• Neuropathic Pain: This occurs when there is damage along the signaling pathway that helps us process sensation. That includes the nerve endings, spinal cord, the brain, and the neurons themselves. Neuropathic pain is often described as burning, numb, or hypersensitive pain. This pain doesn’t offer useful information to us in the same way that nociceptive pain does and it is often associated with chronic pain.
• Nociplastic pain: This is pain where we can’t really locate the origin. It’s very complex and not well understood.

People with FD/MAS can and do experience all three types of pain to varying degrees. This is not that surprising given how FD/MAS affects the body and how nociceptive and neuropathic pain (the first two kinds of pain) affect each other.

You can probably imagine some of the common causes of nociceptive pain, such as a fracture. It becomes more complex as we look at neuropathic pain. For instance, a hairline fracture that doesn’t heal over a long period of time may lead to neuropathic pain because the damaged bone area will eventually grow more nerve fibers, which then amplifies that signaling pathway and creates chronic neuropathic pain. Another example might be someone with leg length discrepancy who has a pinched nerve from adjusting their gait. They may not have an obvious wound, but the signaling pathway for pain becomes damaged leading to neuropathic pain.

Since every person with FD/MAS is affected in a unique way, you can imagine how varied and complex locating the cause of FD/MAS pain can become. This particular article also illustrated some important ideas about FD/MAS and pain.

How does FD/MAS pain affect quality of life?

The disease burden in FD/MAS does not predict pain levels

Patients with the highest disease burden, in other words with more areas of their body affected by FD/MAS, do not necessarily experience more pain.

Neuropathic pain is associated with quality of life concerns

While the number of bones and hormonal functions affected by FD/MAS does not predict a patient’s well-being, it seems that neuropathic pain might. Patients who reported neuropathic pain also reported having more issues such as trouble sleeping, anxiety, and depression.

Are there treatments for the three different kinds of pain?

Yes and no. Of course, with any of the three kinds of pain, you want to heal or fix the source: set the broken bone, allow a wound to heal, or relieve pressure on a pinched nerve, for instance. 

Nociceptive pain is also commonly treated through non-steroidal anti-inflammatory drugs such as Tylenol and Motrin. Neuropathic pain can be treated with neuromodulator drugs such as gabapentin or amitriptyline, and Nociceptive pain is treated with a combination of medication and therapy.

One reason pain medication can become especially challenging with neuropathic or chronic pain is because of the way our nervous system adapts. Just as a damaged nerve ending, over time, will start to amplify the signal for pain, our bodies will adjust to medications. This means that, over time, it can take more and more of a neuromodulator to mitigate pain. This is a key reason that many doctors are hesitant to prescribe long-term pain medication. 

It can be complicated to find the right balance of medication, therapy, and physical adjustments that can help a person with FD/MAS manage their pain, and it’s important that patients find a doctor willing to work with them to find a comfortable plan.

This paper is a strong endorsement of a thorough pain screening for all people diagnosed with FD/MAS. Clinicians should screen for both nociceptive pain and neuropathic pain and work to find treatment plans that manage symptoms and support patients towards their priorities and desired outcomes. 

Here is a link to 2021 Bone Pain and FD webinar for a more thorough overview of this information.

Here is the link to the research article in full.