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Progressiva (FOP)
By: Catherine Yang
What is it?
One of the rarest, most debilitating genetic
disorders known to medicine.
Previously known as Myositis Ossificans
Progressiva
Affects connective tissue.
Said to occur in approximately 1 in 2 million
people worldwide.
About 700 cases reported, 285 of those
cases being in the US.
Most patients are initially misdiagnosed
Characteristics of the
disease
People with FOP are generally born
with malformed big toes.
Affected individuals may also have
short thumbs and other skeletal
abnormalities.
Have flare-ups that look like
tumors.
Flare-ups appear rapidly, usually
overnight
Leads to ossification
FOP Flare-up
Characteristics (cont)
Flare-ups may be:
Spontaneous
Overnight, within hours
Triggered by trauma
Falls, injections, biopsies, surgery, viral
infection, etc.
Progression of FOP
FOP affects
Voluntary muscle
Tendons
Ligaments
Sheet of fibrous tissue
Fasciae
Progression
From the head to the bottom of the body
Axial to peripheral
How is it inherited?
Autosomal dominant pattern
Only one copy of mutated gene is
sufficient to cause the disorder
Shortened lifespan
Median lifespan of 40 years
Age range of 3-77 years
Main cause of death: Cardio-respiratory
failure (54%)
Abnormal
Bone growth
appears at
the wrong
time
Bones grow
in the wrong
places
Common misdiagnoses
Many patients with FOP receive an
initial misdiagnosis, which leads to
inappropriate medical interventions
Common misdiagnoses include:
Cancer, Lymphoma
Fibromatosis
Injury from overuse
Diagnosis is easy!
FOP is actually very easy to diagnose
Look for the two clinical features of
the disease:
Malformed big toes
Tumor-like lesions
Treatment
No effective treatment
Disease can be managed
Avoid trauma
Drugs being developed to control bone
growth
Medications available to help relieve
symptoms of FOP such as pain and
inflammation
Use muscle relaxants
Bibliography
https://www.ifopa.org/fop-fact-sheet.
html
https://www.ucsfbenioffchildrens.org/
conditions/fibrodysplasia_ossificans_
progressiva/
http://www.omim.org/entry/135100
http://www.orpha.net/consor/cgi-bi
n/OC_Exp.php?Expert=337
http://ghr.nlm.nih.gov/condition/fibro
dysplasia-ossificans-progressiva