Clinical and molecular analysis in a series of Mexican patients with clinical diagnosis of Fibrodysplasia Ossificans Progressiva (FOP)


Por: Flores-Gallegos L., Hidalgo-Bravo A., Casas-Avila L., de Leon-Suarez V.P., Miranda-Duarte A., Flores-Estrada N., Antonio F.O., Taja-Chayeb L., Campos-Acevedo L.D., Martinez-de-Villarreal L.E., Perez-Garcia G., Ornelas-Arana M.L., Normendez-Martinez M., Valdes-Flores M.

Publicada: 1 ene 2016
Resumen:
Fibrodysplasia Ossificans Progressiva is a very rare autosomal dominant genetic disease. It is characterized by heterotopic ossification triggered by mild physical trauma leading to progressive disability. A classical and a non-classical form of the disorder have been described. Mutations in the ACVR1 gene have been found in both groups of patients. This study reports the clinical and molecular data of a series of Mexican mestizo patients, including familial cases, with symptoms related to this disorder. The aim of this study is to provide useful clinical and molecular information to achieve an opportune diagnosis and contribute with the awareness of this severely incapacitating disease. All patients who attended from 2009 to 2013 with clinical findings suggesting the diagnosis were invited to participate. Clinical and radiological assessment revealed findings related to FOP. Molecular analysis of the ACVR1 gene identified the c.617C>A mutation in one allele confirming the diagnosis. Two patients presented symptoms not previously reported in classical FOP. Diagnosis was delayed or mistaken in most cases and therefore, patients were exposed to surgeries or other damaging procedures. A detailed physical examination and radiographs are indispensables for detection of FOP. Diagnosis can be confirmed through molecular analysis of the ACVR1 gene. Clinicians must perform an exhaustive assessment in all suspicious individuals to avoid misdiagnosis. An opportune diagnosis and proper orientation are essential for preventing invasive procedures and for improving patient’s quality of life. © 2016, E-Century Publishing Corporation. All rights reserved.
ISSN: 19405901
Editorial
E-Century Publishing Corporation, 40 WHITE OAKS LN, MADISON, WI 53711 USA, Estados Unidos America
Tipo de documento: Article
Volumen: 9 Número: 1
Páginas: 423-432

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