What Is FOP!

What is Fibrodysplasia Ossificans Progressiva (FOP)

Fibrodysplasia Ossificans Progressiva (FOP) is one of the rarest and most disabling genetic conditions known to medicine, causing bone to form in muscles and other connective tissues such as tendons and ligaments.  Bridges of extra bone develop in many cases across the joints, progressively restricting movement and forming a second skeleton that imprisons the body in bone.

There are no other known examples in medicine where one normal organ system turns into another. 

Most cases of FOP are new, meaning no-one else in the family has FOP.  This happens because unexpected changes (mutations) happen as the genes are passed along from each parent.  Many of these changes, such as the change that leads to FOP, are accidents of nature that happen for no apparent reason.

Children with FOP classically appear normal at birth, except for congenital malformation of the great toes.  However, some rarer atypical cases may not display such malformation.

During the first or second decade of life, painful swellings that may look like tumours develop over the neck, back and shoulders and mature into bone. These photos show an individual with FOP through his lifetime.

 

FOP progresses along the trunk and limbs of the body, replacing healthy muscles with bone. These bridges of bone significantly restrict movement and surgical attempts to remove them result in explosive new bone formation because any trauma, even knocks and bumps, accelerates the FOP process.

FOP is extremely variable and unpredictable.  In some, progression is rapid, while in others it is gradual.  One day a person may be able to turn their head or bend an arm, the next they become frozen forever in a locked position.

Worldwide, FOP affects one in two million people, with just over 700 confirmed cases worldwide.  In the UK there are 40 known cases and 285 in the United States.

Key Facts

  • FOP is one of the rarest and most disabling genetic conditions known to medicine.
  • FOP causes bone to form in muscles, tendons and ligaments.
  • FOP bone formations progressively restrict movement of sufferers forming a second skeleton that imprisons the body in bone.
  • FOP sufferers classically appear normal at birth except for congenital malformation of the big toes.
  • FOP progression is variable and unpredictable.  One day a person may be able to turn their head or move their arms, the next they become frozen forever in a locked position.
  • FOP affects 1 in 2 million people.  There are just over 700 confirmed cases worldwide, 40 in the UK.
  • FOP research will not only help to find a cure but also other more common bone-related conditions will benefit from discoveries made (fractures, osteoporosis, hip replacement and other forms of heterotopic ossification that occur in trauma and burn victims). 
  • FOP does not affect a person’s intelligence.
  • FOP can significantly shorten the life expectancy of sufferers (average life expectancy is about 40 years).

An example of the typical progression of FOP

Spontaneous flare-ups of the disease arise in defined temporal and spatial patterns, resulting in ribbons and sheets of bone that fuse the joints of the axial and appendicular skeleton, entombing a patient in a skeleton of heterotopic bone.

How would understanding the cause of bone formation in FOP help others?

The information obtained from studying this disease will have far-reaching implications for the treatment of common disorders such as fractures, osteoporosis, hip replacement surgery and other forms of heterotopic ossification that occur in trauma and burn victims.

Demographics of FOP

Genetic disease affecting 1 in 2 million people

No ethnic, racial or religious patterns

700 confirmed cases across the globe

40 known cases in the United Kingdom and 285 in the United States

Clinical Characteristics of FOP

  • Characteristic malformations of the great toes
  • Flare-ups occur spontaneously or following bodily trauma such as: childhood immunizations, falls while playing, viral illnesses
  • Misdiagnosed in a number of cases as cancer
  • Surgery makes the condition worse
  • There are no effective treatments currently.

Finding a Cure and Treatment for FOP

Researchers announced the discovery of the FOP gene in Nature Genetics in April 2006.

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