FIBRODYSPLASIA OSSIFICANS
PROGRESSIVA
A Brief Overview of this
Rare Disease and the
Role of the Podiatrist in
its Management
Contents• Key Facts & Snapshot
• Overview
– Epidemiology
– Prognosis
• Physical Presentation
• Causes
• Diagnosis
• Treatment
• Podiatric Management
• Final Thoughts
KEY FACTS & SNAPSHOT
“Fibrodysplasia ossificans progressiva (FOP) is a rare,
severely disabling, autosomal dominant disease
characterized by recurrent painful episodes of soft tissue
swelling and the development of tumors in subcutis and
muscle tissue. These lesions lead to heterotopic
ossification, that is, true bone tissue formation in the
axial musculature, the ligaments, the fascia, the
aponeurosis, the tendons, and the joint capsules. A
variety of congenital skeletal malformations of the
hands and the feet, especially a hallux valgus deformity
with microdactyly, also are characteristic.” R.A.Schwartz
OVERVIEW
EPIDEMIOLOGY
• FREQUENCY
The prevalence of Fibrodysplasia Ossificans Progressiva (FOP) has been estimated at 1 case per 1.36 to 1.64 million persons in Europe . Fewer than 200 cases have been documented worldwide.
• RACE
FOP mainly occurs in Caucasians but has been reported in those of African decent as well.
• SEX
FOP is more common in females than males. The male-to-male transition of the disease excluded X-linked inheritance. Since few who are affected chose to have children, most patients are considered to have new mutations.
• AGE
FOP usually starts in early infancy; however reports exist of in utero involvement and skeletal deformities are present at birth.*
OVERVIEW
Prognosis
The Prognosis for FOP is poor because of
the involvement of thoracic muscles and
restrictive lung disease. Most FOP patients
are bedridden by the time they are in their
30’s and they usually succumb before their
5th decade.
PHYSICAL PRESENTATION
In most cases, FOP starts in early infancy with
episodes of soft tissue swelling. There have been reports of in utero involvement. Recurrent
periorbital and diffuse soft tissue scalp swelling are
some of the first signs and symptoms. Between the ages of 2-6, ectopic bone formation becomes
evident, then, ectopic bone formation occurs in the ligaments, fascia, aponeuroses, tendons and joint
capsules. Typically this occurs in a proximal-to-distal tendency. Inflammatory flare-ups are common and
often spontaneous but are also frequently associated
with trauma and injury.Most Individuals become bedridden in their 30’s as
motion becomes more and more restrictive.Neuropathic pain (favours females), chronic
neurological symptoms and sensory abnormalities
including deafness, are common.
This Photo by Unknown Author is licensed under CC BY-NC-ND
PhysicalPresentation
• Progressive ankylosis of joints (jaw costals, spine, limbs and digits)
• Bone tumor formation spontaneously and associated with trauma
• Restricted mandibular movement
• Can be associated with alopecia and deafness
• Widespread tumors in the scapular area
• Proximal tibial osteochondromas are a common phenotype
Causes
• Pathophysiology of FOP is unknown
• It is an inherited autosomal dominant disorder with
variable gene expressivity
• Current findings suggest it is involved with at least 1 gene
in the bone morphic protein (BMP) pathway
• The genetic cause of FOP lies within an ACVR1 gene
mutation. The ACVR1 gene encodes a type 1 BMP
transmembrane receptor
• It is believed that these mutations may activate
osteogenic BMP signaling is extraskeletal sites leading to
delayed and progressive ectopic bone formation.
DIAGNOSIS• Based on the presentation of key physical
characteristics
• the presence of bilateral congenital hallux
valgus deformity is highly suggestive of
FOP
• Increased alkaline phosphatase levels for
children
• X-ray findings in abnormal formation of
the great toe, abnormally shaped long
bones with exostoses, and developmental
fusion of the cervical spine
• CT is best for early diagnosis and may
demonstrate herotropic ossification of the
pterygoid muscles
Treatment
• Early diagnosis is of paramount importance (neonatal
period
• Early treatment helps avoid aggravation of the disease,
slow the progress and provide an improved quality of life.
• Systemic steroids sometimes used to for acute
inflammatory flare-ups
• Gene therapy may hold promise in FOP treatment future
• THERE IS NO CURRENTLY KNOW EFFECTIVE MEDICAL
THERAPY FOR FOP
Treatment
The International Clinical Counsel (ICC) on FOP suggests
1. Deep tissue trauma must be avoided
2. Venipuncture, subcutaneous and intravenous meds are OK, but IM injections must be avoided whenever possible
3. Significant precautions should be taken with intubation procedures (general anesthesiology) since the jaw and neck may be partially or completely locked
4. The ICC has produced a 111-page document on the guidelines for FOP medical management
( That document states nothing specific as to the podiatric management of the individual with FOP)
PODIATRIC MANAGEMENT
Fibrodysplasia Ossificans Progressiva
Preserve Mobility/Preserve Productivity
• Handicap parking permit
• Access to clinic, appropriate treatment room space,
furniture and layout
• Orthopedic footwear with palliative accommodations
to promote stable and safe gait indoors and outdoors
• Open access to footwear (full open tongue, open back)
Prevent Injury
• Proper fit footwear
• Non-slip outsole
• Accommodative Orthotic with appropriate materials/top
covers (Plastizote)
• Digital devices as required (tube foam, silicone etc.)
• Avoid injections whenever possible, especially IM
• Avoid surgical options whenever possible elective and
non-critical procedures.
PROMOTE COMFORT
• Conservative lesion debridement
• Conservative nail care
• Accommodative foot orthoses
• Accommodative footwear with pt.
mobility in mind
FINAL THOUGHTS
Questions or Comments?
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