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Table of Contents

Preface

Introductory Comments

General Questions About FOP

Genetics of FOP

How FOP Affects the Body

Care and Treatment

Activities

Feelings About FOP

Helpful Addresses

Family Resources

Ideas for Independence

Medical Articles

Acknowledgments and Contributions

Catastrophic Falls in People Who Have Fibrodysplasia Ossificans Progressiva

by David L. Glaser, M.D., David M. Rocke, Ph.D., Frederick S. Kaplan, M.D., and Sharon Kantanie

During the past several years, physicians in the FOP Working Group at the University of Pennsylvania have heard numerous anecdotal reports of catastrophic falls among people with FOP. To examine the incidence and severity of these falls, a postal survey was mailed to 135 patient-members of the International FOP Association. At the time of the survey, this represented 90% of all known patients in the world who had FOP. A modified survey omitting questions specific to FOP was administered to 94 members of a control group which contained patients seen at an outpatient clinic at Children's Hospital of Philadelphia, as well as individuals in a popular nonhospital cafeteria.

Participants in both surveys were asked whether they had ever suffered a fall that resulted in an injury. Other questions looked at the person's age at the time of the fall, what factors initiated the fall, whether there were any permanent results from the fall, whether the fall occurred inside or outside, as well as the number of falls that occurred in the year prior to the survey.

In the FOP group, a much larger percentage of respondents reported a fall resulting in injury (81%) than in the control group (44%). The most significant difference between the groups was a greater frequency of severe head injury, loss of consciousness, concussion, neck injury, and back/torso injury in people with FOP. The control group had a greater frequency of forehead/head lacerations. The group of patients with FOP was also more likely to be admitted to a hospital, to have a permanent change in function due to a fall, and to have a permanent change in the ability to walk due to a fall. In fact, two-thirds of the falls initiated a painful flare-up of disease activity leading to permanent loss of movement. Overall, more than half of all falls in the FOP population lead to permanent disability.

A strong, balanced, and coordinated response is required for stable gait. Unfortunately, there are numerous factors which reduce this ability in people with FOP. Because of the diminished flexibility of the neck and chest wall, visual input is reduced to a limited field of view which can rarely be adjusted to view the surface on which they walk. Even if sensory input alerts the patient to a dangerous situation, motor response is limited due to joint fusion and muscle involvement. Mobility restriction from fusion of the neck, trunk, and limbs severely impairs the balancing mechanisms and protective responses to falls, increasing the likelihood of subsequent falls with resultant soft tissue injury. Thus patients are frequently trapped in a cycle of repeated falls, injuries, disabilities, and subsequent falls.

There was no significant difference in the number of head injuries suffered by the two groups in the study. However, catastrophic head injuries were clearly more common in patients with FOP while minor lacerations were more common in the control group. The predilection to severe head injury in FOP patients likely represents the inability to reduce the impact of falls by protecting themselves with the use of the upper limbs.

Measures to prevent falls and associated life-threatening injuries in patients with FOP may include moderation of activity, use of protective headgear, improvement in household safety, and the use of stabilizing devices such as canes or walkers. It is important for each individual to balance independence and safety. Redirection of play to less interactive play may provide an alternative solution. Complete avoidance of high risk circumstances may reduce falls, but also may compromise a patient's functional level and independence, and may be unacceptable to some.

Within the home, adjustments to the living environment might include installing protective hand railing on stairs, securing loose carpeting, removing objects from walkways, and eliminating uneven flooring including thresholds of door frames. Installation of ramps instead of stairs may also be beneficial.

Unfortunately, many of the mechanisms for falls are difficult to anticipate and may be difficult to avoid. Unlike the control group, loss of balance is the most common mechanism of a fall in a person who has FOP. Prevention of falls due to imbalance begins with stabilization of gait. The use of a cane, crutches, or walker (including rolling types for more mobile individuals) may improve balance for many. Nonetheless, because FOP limits use of upper limbs, many patients may find the use of such devices to be limited. Special attention (or avoidance) should be made to uneven or slick surfaces.

Even though the best way to reduce injuries is through prevention of falls, augmentation of the patient's protective functions should be performed to minimize injury when a fall does occur. The use of protective head gear such as helmets has been shown to reduce severe head injury in many high risk groups including bicyclists, equestrians, jockeys, and patients with cerebral palsy. Implementation of helmet use in your patients with FOP may help reduce the disturbing incidence of severe head injuries. The decision regarding whether to use a helmet should be made by the family and their physician and should take into consideration factors such as the child's propensity to fall, the ability to stabilize his/her gait, their ability to protect himself/herself during falls, etc.

Falls will occur despite the most aggressive preventative measures. When a fall occurs, prompt medical attention should be sought, especially when a head injury is suspected. Any head injury should be considered serious until proven otherwise. A few common signs and symptoms of severe head injury include increasing headache, dizziness, drowsiness, weakness, confusion, or loss of consciousness. These symptoms often do not appear until hours after an injury. A patient should be examined carefully by a health care professional if any head injury is even remotely suspected.

Several biases may have been introduced in this study. First, the authors relied on the recall memory of those who participated in the survey. However, though the total recall of all falls may be in question, the recall of those falls associated with severe injury and lifelong disability are likely to be remembered with great accuracy in both the FOP group and the age and gender-matched control group. Second, some questionnaires were not returned. However, it is unlikely that these questionnaires would have significantly altered the final conclusions. Third, the control group was matched for age and gender only. No attempt was made to take into account activity level, socioeconomic status, or detailed medical history. Injuries suffered while participating in organized athletic activities were also excluded. Overall, the FOP group leads a more sedentary lifestyle than the control group.

This study clearly established the catastrophic nature of falls in patients with FOP. Through activity moderation, improved household safety, and gait stabilization, the number of falls suffered in this group could be reduced. However, despite aggressive preventative measures, falls will occur. When a fall occurs, augmentation of protective functions may minimize injury. Early recognition of severe injuries, especially those related to head trauma, may lead to a reduction in the seriousness of the outcome. 

For additional information, please consult:
Glaser, DL, Rocke DM, Kaplan FS. Catastrophic falls in patients who have fibrodysplasia ossificans progressiva. Clinical Orthopaedics and Related Research. In preparation. To be published in Oct. 1997.