WHAT IS FOP?
UNRAVELLING THE MYSTERY OF
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
IN A NUTSHELL
Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder in which bone forms in muscles, tendons, ligaments, and other connective tissues.
Joints become locked and permanently immobile.
Bridges of extra bone form across the joints in characteristic patterns, progressively restricting movement.
FOP is a disease in which the body produces not just too much bone, but an extra skeleton that immobilizes the joints of the body, leading to stiffness and permanent immobility.
Extra bone growth can occur without any warning or as a result of trauma, which can be as minimal as a bump, a fall or forced movement to locked limbs. These episodes of bone formation may be preceded by severe inflammation (“flares”). Efforts to remove this extra bone are fruitless and will cause more bone to grow.
Malformations of the great toe are commonly noted at birth. Ectopic bone formation usually begins in the first decade of life and progresses episodically in characteristic anatomic patterns.
FOP is accelerated by trauma so always handle the patient gently and prevent falls. Evaluate the emergency and protect the life of the patient as if FOP were not an issue. FOP itself rarely causes an emergency.
The 123 of recognising FOP
One of the clear indicators for FOP is malformed big toes. They are short, bent and sometimes turned inwards.
Lumps and bumps often form on the upper torso and can look like tumours. They come up quickly, sometimes overnight, and can be red, painful, and hot to the touch. They occur typically in the shoulder and back areas and sometimes on the scalp or head. Swellings eventually clear up but leave behind a new piece of mature bone.
Limbs can get stuck in any position. It’s important not to try and force the limbs in any way, as that can cause harm
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IMPORTANT POINTS TO NOTE
FOP affects the neck, spine, chest, shoulders, elbows, wrists, hips, knees, ankles, jaw, and many areas in between. The progression of ossification follows a characteristic pattern. Usually, extra bone forms in the neck, spine, and shoulders before developing in the elbows, hips, and knees.
The largest variation seen is the timing and rate of extra bone formation. Another common variation includes the severity of movement restriction. For example, an elbow could be fixed in a closed position, putting the hand permanently across the chest, or the elbow may be left with some range of motion.
FOR MORE VISUAL EXAMPLES AND
STEPS TO IDENTIFYING FOP PLEASE CLICK HERE