Due to its rarity, FOP is commonly misdiagnosed. Many doctors and medical professionals have never heard of the condition.
Where a diagnosis of FOP is suspected,
no further treatments or test should be carried out before seeking expert medical advice.
The ‘FOP’ toes, combined with unexplained swellings across the body, are a strong indicator of FOP.
Key symptoms of FOP:
People with FOP appear normal at birth, except for the tell-tale malformed, turned-in big toes. The big toes may be shortened and/or curl under. In some instances, the greattoes may be missing completely. The person may also have shorter or turned in thumbs.
The swellings are known as flare–ups. These are painfullumps that can appear anywhere across the body. They can be red and inflamed. They can last from a few weeks to a few months. At the very least they cause inconvenience and discomfort; at worst they are excruciatingly painful. They are often misdiagnosed as tumours.
A flare-up can appear spontaneously or after an incident. As the flare-up subsides, new bone growth may have occurred.
People with FOP suffer from stiffness in joints. Some may be present at birth, other stiffness may developovertime. Babies with FOP rarelycrawl due to fusedjoints in the neck or malformed joints.
Sadly, misdiagnosis is common
The toes are often thought to be bunions or hallux valgus, while the swellings can be misdiagnosed as cancer. Often, patients are subjected to unnecessary and potentially harmful investigative procedures and treatments. Some medical professionals may try to ‘straighten’ or ‘correct’ the toes. Until a diagnosis of FOP is confirmed or disproved through a genetic test, no further treatments should be undertaken. This is critical to reduce the likelihood of FOP fall-out from such procedures in the event that the patient’s diagnosis proves conclusive for FOP.
If you suspect a diagnosis of FOP, do not permit any biopsies of the area and seek expert FOP specialist advice.
Due to the rarity of FOP, most GPs and other medical professionals will not have heard of the condition.
A continuing professional development tool for healthcare professionals
Springer Healthcare, in collaboration with global FOP specialists, have developed a learning program to educate and assist healthcare professionals navigate the challenges of diagnosing a person with FOP. There are follow-up videos and resources with further information to support professionals to provide medical care for those diagnoses and living with FOP.
A selection of photos of FOP toes, illustrating the different ways FOP may present. There are photos from babies through to adults, along with two x-rays which illustrate the missing joint in the great toe.
The Medical Management of Fibrodysplasia Ossificans Progressiva: Current treatment considerations
The International Clinical Council for FOP is a group of global FOP specialists whose mission is to educate and advise on the best practices and care for those living with FOP.
They have written a set of medical guidelines for healthcare professionals to assist them in providing the best possible care for their patient with FOP. These are updated when there are changes to guidance. This is especially relevant at the moment as we are learning to live with Covid.
All medical professionals who are caring for a patient with FOP should familiarise themselves with these guidelines, and also revisit them regularly to ensure they are familiar with any changes to best practice.
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