Скачать или смотреть What Clinicians Need to Know About Fibrodysplasia Ossificans Progressiva

Mona Al Mukaddam, MD, Director of the Penn Bone Center at the University of Pennsylvania, discusses fibrodysplasia ossificans progressiva (FOP).

FOP is a disorder in which skeletal muscle and connective tissue are gradually ossified. This condition leads to bone formation outside the skeleton that restricts movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and moving down the body and into the limbs. People with FOP are born with abnormal big toes which can be helpful in making the diagnosis. Trauma, such as a fall or invasive medical procedure, or a viral illness may trigger episodes of muscle swelling and inflammation. These flareups last for several days to months and often result in permanent bone growth in the injured area. FOP is almost always caused by a genetic change at the same place in the ACVR1 gene.

Delays in diagnosis of FOP can be harmful due to common testing procedures, such as biopsies, which can lead to more flares in patients with FOP. Dr. Al Mukaddam explains that FOP can be easy to detect once a physician has an awareness of the disease. However, the education surrounding FOP is currently lacking and many physicians are not familiar with the condition. Increasing education is especially important considering the variety of specialists that an FOP patient may be referred to before an accurate diagnosis is made.

Current management for FOP is mainly supportive including controlling flares with glucocorticoids and non-steroidal medications. Preventative measures include striving for early diagnosis, prevention of trauma that can cause flares, and avoiding intramuscular injections and immunizations. FOP also has an approved medication, palovarotene, an orally bioavailable selective retinoic acid receptor gamma agonist, that prevents heterotopic ossification. There are
also several ongoing clinical trials evaluating new treatments for FOP.

Dr. Al Mukaddam also explains the importance of patient advocacy groups being at the forefront of conversations in rare diseases. It is because of their organization, contributions to discussions about their needs, and funding that research is happening at the quantity and quality that it currently is.

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