Abstract
ABSTRACTFibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder leading to progressive heterotopic ossifications (HO) of muscles, tendons, and ligaments, which can be induced by trauma or by surgery. Despite strong medical advice to the contrary, an FOP patient insisted on surgery to alleviate her complete trismus, which caused an unbearable impact on her quality of life (QOL). The entire trismus history of this FOP patient is presented. [18F]‐NaF position emission tomography/computed tomography (PET/CT) scans were introduced as an imaging method for heterotopic bone formation activity. To place our findings into context, a systematic review on jaw surgery in FOP was performed. After falling down the stairs, a 9‐year‐old patient developed mobility impairment of her left‐sided jaw. During the following 13 years bone scintigraphy showed persistent activity of the disease leading to progressive left‐sided zygomatico‐mandibular fusion by HO, resulting in complete trismus. Within 1 month after HO removal on the left side and a matching right coronoidectomy, [18F]‐NaF PET/CT demonstrated a substantial flare‐up activity followed by new HO in both masseter and temporalis muscles. Despite recurrent HO and trismus her QOL increased due to a stable increased interincisal opening of 5.5 mm. Although systematic review reveals a 100% risk of HO recurrence after jaw surgery, information on improved QOL is scarce. In conclusion, surgery in FOP may be beneficial for QOL despite new HO formation. Assessment of disease activity using [18F]‐NaF PET/CT is possible before HO is evident on CT and may serve as a new and quantitative marker of the disease. © 2017 The Authors. JBMR Plus Published by Wiley Periodicals, Inc. on behalf of the American Society for Bone and Mineral Research.
Highlights
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder causing progressive heterotopic ossification (HO) of muscles, tendons, and ligaments.[1,2] The activating R206H mutation of the bone morphogenetic protein (BMP) type 1 receptor ACVR1 accounts for most of the classical FOP cases.[3,4] From early childhood onward, the disease becomes gradually worse owing to active periods, which may be spontaneous or induced by trauma or surgery.[5]
For the first time 18F-sodiumfluoride position emission tomography/computed tomography ([18F]-NaF PET/CT) scans were performed as a potential marker of flare-ups.[9]. Results are placed into context by relating them to the outcome of a systematic review on the impact of maxillofacial surgery in FOP
This study confirms that maxillofacial surgery and removal of HO in a patient with FOP results in a flare-up, leading to recurrent and new HO in the region, where surgery was performed
Summary
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder causing progressive heterotopic ossification (HO) of muscles, tendons, and ligaments.[1,2] The activating R206H mutation of the bone morphogenetic protein (BMP) type 1 receptor ACVR1 accounts for most of the classical FOP cases.[3,4] From early childhood onward, the disease becomes gradually worse owing to active periods (flare-ups), which may be spontaneous or induced by trauma or surgery.[5]. One early complication of HO is represented by trismus, or restricted jaw opening, which occurs in 70% of patients at a mean age of 19 years and restricts quality of life (QOL) by interfering with essential functions such as eating, vomiting, and oral hygiene.[6,7] There is no proven treatment for FOP and surgery is contraindicated.[8]. This work presents the medical history and QOL of an FOP patient, who developed a complete trismus and insisted on maxillofacial surgery to augment her interincisal distance (ID) while accepting the risks of recurrent HO. For the first time 18F-sodiumfluoride position emission tomography/computed tomography ([18F]-NaF PET/CT) scans were performed as a potential marker of flare-ups.[9] Results are placed into context by relating them to the outcome of a systematic review on the impact of maxillofacial surgery in FOP
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