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Demographics of FOP:
History of FOP
Symptoms
In addition, malformed big toes (short, bent, and sometimes curved inward)
are always associated with the condition and can be observed at birth. While
the toe malformations cause few problems, they serve as an important early
sign of FOP before the onset of extra bone.
Rather than crawl on their hands and knees, most kids with FOP scoot on their
buttocks; then get up and walk. The reason that most cannot crawl is because
the facet joints in the back of the neck have not formed properly or have
fused, thus limiting movement.
Although FOP is congenital, meaning that FOP starts before birth, the extra
bone does not form before birth.
Symptoms of FOP, including bone formation, usually begin during the first two
decades of life.
The majority of affected people learn that they have FOP before the age of ten.
Inflamed (sometimes painful) swellings, typically in the shoulder and back
areas and sometimes on the scalp or head, are usually the first sign of FOP.
The swellings eventually clear up, but they leave behind a new piece of mature
bone.
People who have FOP experience different rates of new bone formation. In
some the progress is rapid, while in others it is more gradual. In each case, the
exact rate of progression is unpredictable, although there appears to be a
pattern to the progression.
For example, extra bone formation tends to occur in the neck, shoulders, and
upper back early in life and in the hips and knees during adolescence or early
adulthood.
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA 4
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MISDIAGNOSIS
FOP is one of the rarest diseases in the world. Few doctors encounter it in
medical school. Its symptoms are baffling and it is no wonder it is so
commonly misdiagnosed. Misdiagnosis rates for FOP have previously been
reported to be in the range of 80% or greater. Dr. Joseph Kitterman, Professor
of Pediatrics at UCSF, evaluated the misdiagnosis rates in FOP as well as the
most common causes for misdiagnosis. Suffice it to say, misdiagnosis of FOP
has caused a great deal of pain and suffering for FOP patients and families
worldwide.
Three of the most common misdiagnoses for FOP have been reported to be:
cancer, aggressive juvenile fibromatosis, and fibrous dysplasia.
There are also many critical differences between FOP and the conditions listed
above. The key to diagnosing FOP is being aware of the condition,
understanding the association with the malformed toe, and also being aware of
the nature of how FOP progresses. An astute clinician knowledgeable about
FOP can diagnose the condition even before bone forms just from the presence
of the malformed great toes and the rapidly appearing soft tissue swellings
that form in characteristic anatomic locations.
One of the goals of the FOP community is to better educate physicians and
healthcare workers around the world about the proper diagnosis of FOP so that
dangerous misdiagnoses of FOP will not occur in the future.
FOP skeleton
The glass case in which Harry Eastlack's skeleton dwells has become a window
into the medical mysteries and scientific challenges of FOP. It also exemplifies
the harsh reality of FOP more than any chart, slide, or clinical description could
accomplish.
Normal skeletons collapse into piles of loose bones when the connective tissues
that join bones together in life are removed. To be displayed in human form,
skeletons have to be re-articulated or pieced back together with fine wires and
glue. As a result of the bridges of bone that formed from FOP flare-ups, Harry
Eastlack's skeleton is almost completely fused into one piece, which proved
little challenge for the articulator's craft.
Sheets of bone cover Harry Eastlack's back. Ribbons, sheets, and plates of
bone lock his spine to his skull and his skull to his jaw. Additional ribbons and
cordons of bone span from the spine to the limbs and immobilize the
shoulders, elbows, hips, and knees. Thin stalagmites of bone launch
themselves from his pelvis and thighs. His upper arms are welded to his
breastbone by slender white bridges of bone that cross his immobilized rib
cage.
This FOP skeleton, which stands as Harry Eastlack stood in life, is a constant
reminder of how far scientists have come in the research of FOP, but it is also
a constant reminder of how much further they need to go. Harry Eastlack's
skeleton was graciously lent by The Mutter Museum to The International FOP
Association (IFOPA) for scientific and medical teaching at The Second and Third
International FOP Symposia held in Philadelphia in 1995 and 2000. Physicians
and scientists from around the world traveled to Philadelphia to learn about
FOP and to have the opportunity to view and study this now famous skeleton.
Philadelphia, and lived there his entire life with his mother, father, and sister.
In more recent times, Philadelphia has become the international center for FOP
research. The proximity of Harry Eastlack's skeleton to the FOP Center &
Laboratory and to its students, scientists, and visitors has added enormously
to its value in educating physicians, scientists, and patients alike across the
generations.
FOP FAQ
Q - What does FOP stand for and when was it first documented?
A - The technical answer is surprisingly "yes," but that does not tell the whole
story. Surgical intervention often results in a worsening of the condition. New
bone will grow back and further impair mobility.
A - A flare-up occurs when the body starts to generate new bone. No one
knows what initiates this process, but once it begins, it leads to tissue swelling
and much discomfort. Sometimes the individual will not feel well and may
develop a low-grade fever. While there is no medication or therapy that can
stop the process of bone formation once it has begun, a physician can
prescribe medicine to help relieve the pain. A single flare-up may continue for
as long as 6-8 weeks. Multiple flare-ups may also occur during an active period
of FOP. When a flare-up is in progress, joint stiffness may occur overnight. The
stiffness comes from swelling and pressure inside the muscle during the
earliest stages of new bone formation.
While flare-ups are usually painful, the degree of pain can vary. Most people
find that the pain subsides when a flare-up is over; it appears that it is the
process of extra bone formation, rather than the extra bone itself, that usually
leads to pain.
A - Unfortunately, FOP does not improve over time. The "P" in FOP stands for
"Progressiva." That means that FOP will progress, or get worse, as a person
ages. As FOP is part of a person's genetic make-up, people with FOP are born
with the condition, even though the extra bone may not have appeared at
birth. So people with FOP will not outgrow the condition. Nor can the extra
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA 9
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bone that has been produced by FOP disappear. The body of a person with FOP
does not make extra bone all of the time; a person with FOP may go months or
years without a flare-up. Yet there is always a chance that extra bone can
form, either without any warning ("spontaneous flare-up") or following trauma,
such as a bump, fall, muscle overexertion, an injury, intramuscular injections,
surgery, or even some viruses. It is unclear why the disease is active some
times and quiet or dormant at other times.
Q - What parts of the body are involved in FOP? How does FOP affect
mobility?
A - 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 muscles of
the diaphragm, tongue, eyes, face, and heart are characteristically spared. The
well-documented and characteristic progression of FOP, as well as the regions
not affected, likely hold important clues to the cause and development of the
disease.
FOP affects mobility because the body's joints, such as the knees or the
elbows, connect the bones and aid in movement. In FOP, extra bone replaces
the ligaments (which cover the joints), as well as muscles and tendons (which
move the joints). Consequently, movement in areas affected by FOP becomes
difficult or impossible.
A - 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.
A - At this time, there is no treatment for FOP. For now, medication is only
helpful to manage the symptoms of FOP (pain, inflammation, etc.) For more
information, please read the The Medical Management of Fibrodysplasia
Ossificans Progressiva: Current Treatment Considerations.
that may arise in school and the ways others have dealt with them, please click
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