Early Mortality and Cardiorespiratory Failure in Patients with Fibrodysplasia Ossificans Progressiva

Kaplan, Frederick S.; Zasloff, Michael; Kitterman, Joseph A.; Shore, Eileen M.; Hong, Charles C.; Rocke, David M.

doi:10.2106/jbjs.i.00705

Cited by 188 publications

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“…The most common cause of death is cardiovascular failure such as pneumonia and right-sided heart failure. 6) In spite of short term follow up, we successfully treated this FOP child with surgical resection combined with NSAIDs.…”

Section: Discussionmentioning

confidence: 95%

Surgical Treatment Combined with NSAIDs in Fibrodysplasia Ossificans Progressiva

Seok

Cho

Lee

2012

ATCS

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Fibrodysplasia ossificans progressiva (FOP) is a rare and disabling genetic disorder characterized by congenital malformation of the great toes and by progressive heterotopic ossification. There is no effective treatment. Conservative management is unsuccessful, and operation result in failure because new ectopic bone forms at the operative site. We report a 10-year-old boy with FOP who underwent surgical management combined with non-steroidal anti-inflammatory drugs (NSAIDs).Keywords: ectopic ossification, fibrodysplasia ossificans progressiva, chest wall Ann Thorac Cardiovasc Surg 2012; 18: 61-63 doi: 10.5761/atcs.cr.11.01677 larged. It was hard, 6-cm sized, and palpated over the right pectoralis muscle. He complained of a progressively decreased range of motion in his right shoulder due to pain (45° of forward elevation, and 45° of abduction). Physical examination revealed typical congenital malformations of the great toes (Fig. 1). His parents did not show any similar abnormalities during their physical examinations. No history of local trauma was reported. A chest roentgenogram demonstrated an abnormal calcification. A computed tomography scan showed a 6-cm sized abnormal heterotopic ossification between the pectoralis major muscle and pectoralis minor muscle (Fig. 2). The diagnosis of FOP was made based on the typical features including congenital malformations of great toes and progressive heterotopic ossification. Surgical excision of heterotopic ossification from the right chest was performed to improve range of motion for supportive therapy. The intubation was difficult owing to stiffness of the neck during the preoperative induction. The heterotopic bone located in the anterior aspect of his chest was excised as much as possible via anterior approach. We incised pectoralis major muscle and length of incision was about 5cm. During the operation, meticulously cautious efforts were made to avoid surgical trauma. An operation site incision and blunt muscular dissection was applied as little as possible. Convalescence was uneventful. On the second postoperative day, the patient started active physiotherapy. Naproxen (500 mg, once daily, orally) was administered for two weeks

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Section: Discussionmentioning

confidence: 95%

Surgical Treatment Combined with NSAIDs in Fibrodysplasia Ossificans Progressiva

Seok

Cho

Lee

2012

ATCS

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“…Many of them will experience severe weight loss resulting from ankylosis of the jaw and might develop pneumonia or heart failure as a result of chest wall stiffness, thus their survival is approximately 45 years, and death often results from complications of thoracic insufficiency syndrome (15) .…”

Section: Discussionmentioning

confidence: 99%

Fibrodisplasia ossificante progressiva: diagnóstico em atenção primária

Garcia-Pinzas

Wong²,

Fernández

et al. 2013

Rev. paul. pediatr.

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Objective: To show that it is possible to diagnose fibrodysplasia ossificans progressiva in the primary health care.Case description: A 10-year-old female patient that has developed, since the age of 4, progressive stiffness of the joints and spine and ossification of soft tissues, often associated with trauma. The hallux valgus deviation of both toes was present from birth. X-ray showed the presence of heterotopic ossification.Comments: This disease is likely to be diagnosed with the resources available in primary health care, since it is based on clinical findings. Currently, there is no cure for this disease, but high doses of corticosteroids and the use of nonsteroidal anti-inflammatory drugs, which are available in the primary care level, may limit the development of new calcifications and mitigate the pain, improving the quality of life of these patients.Key-words: myositis ossificans; heterotopic ossification; primary health care. RESUMOObjetivo: Buscou-se demonstrar ser possível diagnosticar a fibrodisplasia ossificante progressiva na atenção primária à saúde.Descrição do caso: Paciente de dez anos que, desde os quatro anos, mostrava rigidez progressiva nas articulações e na coluna vertebral, além de ossificações de partes moles, muitas vezes associadas a traumatismos. Havia desvio de hálux valgo dos primeiros artelhos de ambos os pés, presente desde o nascimento. Por meio de radiografias, demonstrou-se a presença de ossificações heterotópicas.Comentários: É possível realizar o diagnóstico desta doença com recursos disponíveis em atenção primária à saúde, uma vez que se baseia fundamentalmente em critérios clíni-cos. Atualmente, não existe cura para a doença, mas é possível limitar o desenvolvimento de novas calcificações, assim como mitigar a dor causada pelos recrudescimentos da doença, melhorando a qualidade de vida dos pacientes. Para isso, são utilizadas altas doses de corticoides e anti-inflamatórios não esteroides, disponíveis nos níveis primários de atenção.Palavras-chave: miosite ossificante; ossificação heterotópica; atenção primária à saúde. RESUMENObjetivo: Se buscó demostrar que es posible diagnosticar la Fibrodisplasia Osificante Progresiva (FOP) desde la atención primaria de Salud.Descripción del Caso: Se describe el caso de una paciente de 10 años que desde los 4 años, desarrolla rigidez progresiva en las articulaciones y en la columna vertebral, además de osificaciones de partes blandas, muchas veces asociada con traumatismos; un rasgo importante fue la desviación en Hallux Valgus de los primeros dedos de ambos pies, presente desde su nacimiento; por medio de radiografías se demostró la presencia de osificaciones heterotópicas.Comentarios: el diagnóstico de esta enfermedad es factible de realizarse con recursos disponibles en la Atención Jesus Garcia-Pinzas et alPrimaria de Salud ya que se basa fundamentalmente en criterios clínicos. Actualmente no existe cura para esta enfermedad, pero es posible limitar el desarrollo de nuevas calcificaciones, y así como mitigar el dolor que c...

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“…[14][15][16] Es explicable que estos pacientes fallezcan como resultado de procesos infecciosos respiratorios, insuficiencia cardiaca, asfixia y desnutrición. 4,17,18 La mutación genética causante de la fibrodisplasia osificante progresiva se ha descrito como una sustitución de un nucleótido único recurrente causando una mutación antisentido en el codón 206 (c.617G>A; R206H) en el dominio de activación de la glicina-serina del receptor del gen que codifica la activina IA (ACVR1), un receptor de proteína morfogenética ósea de tipo 1.…”

Section: Figuraunclassified

“…Los pacientes deben ser vacunados contra el virus de la influenza y el Haemophilus por vía intradérmica para evitar trauma. 18,23 Debido a que nuestra paciente se encontraba en situación de gran vulnerabilidad social, económica, geográfica y pobre accesibilidad a los servicios de salud y de rehabilitación, se decidió realizar el análisis de su caso sugiriendo un programa de enseñanza que permitiera por lo menos evitar lesiones que propicien la osificación final. De esta forma se obtuvieron datos que nos permitieron conocer que en su entorno había grandes barreras arquitectónicas que daban lugar a caídas frecuentes: el piso irregular y de tierra, convivencia con animales de corral, el poco cuidado de la familia.…”

Section: 3-519unclassified

Fibrodisplasia osificante progresiva: informe de caso con diagnóstico temprano y propuesta de rehabilitación

Colmenares-Bonilla

González-Sandoval

2017

Acta Pediatr Mex

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101www.actapediatrica.org.mx caso clínico dE intErés EspEcial Acta Pediatr Mex. 2017 mar;38(2):101-107. Fibrodisplasia osificante progresiva: informe de caso con diagnóstico temprano y propuesta de rehabilitación ResumenLa fibrodisplasia osificante progresiva es una alteración genética extremadamente rara; se caracteriza por osificación heterotópica espontánea catastrófica, causada por un traumatismo mínimo y por malformación tipo hallux valgus en 95% de los casos. Su prevalencia es de 1 en 2,000,000 de habitantes. La mayoría de pacientes son mal diagnosticados en etapas tempranas y es frecuente que sean sometidos a pruebas diagnósticas causando discapacidad importante por limitación del movimiento.En la primera década de vida hay episodios de dolor y edema en tejidos blandos, que precede a la osificación; éstos son precipitados por traumatismos mínimos, inyecciones intramusculares o procedimientos quirúrgicos, entre otras muchas causas. Las osificaciones causan dolor crónico, anquilosis articular, restricción de movimiento, infecciones graves, desnutrición y muerte por insuficiencia respiratoria. Generalmente, estos pacientes son sometidos a procedimientos diagnósticos o terapéuticos que agravan su problema.Presentamos el caso de una paciente de 2.6 años de edad, proveniente de una comunidad rural, que fue diagnosticada tempranamente con este padecimiento y se describen propuestas del tratamiento de rehabilitación.PALABRAS CLAVE: fibrodisplasia osificante progresiva, osificación heterotópica, rehabilitación. AbstractFibrodysplasia ossificans progressiva is an extremely rare genetic condition characterized by spontaneous catastrophic heterotopic

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Early Mortality and Cardiorespiratory Failure in Patients with Fibrodysplasia Ossificans Progressiva

Abstract: Fibrodysplasia ossificans progressiva is not only an extremely disabling disease but also a condition of considerably shortened lifespan. The most common cause of death in patients with fibrodysplasia ossificans progressiva is cardiorespiratory failure from thoracic insufficiency syndrome.

Cited by 188 publications

References 43 publications

Surgical Treatment Combined with NSAIDs in Fibrodysplasia Ossificans Progressiva

Surgical Treatment Combined with NSAIDs in Fibrodysplasia Ossificans Progressiva

Fibrodisplasia ossificante progressiva: diagnóstico em atenção primária

Fibrodisplasia osificante progresiva: informe de caso con diagnóstico temprano y propuesta de rehabilitación

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