When Limb Surgery Has Become the Only Life-Saving Therapy in FOP: A Case Report and Systematic Review of the Literature

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare disease in which heterotopic ossification (HO) is formed in muscles, tendons and ligaments. Traumatic events, including surgery, are discouraged as this is known to trigger a flare-up with risk of subsequent HO. Anesthetic management for patients with FOP is challenging. Cervical spine fusion, ankylosis of the temporomandibular joints, thoracic insufficiency syndrome, restrictive chest wall disease, and sensitivity to oral trauma complicate airway management and anesthesia and pose life-threatening risks. We report a patient with FOP suffering from life-threatening antibiotic resistant bacterial infected ulcers of the right lower leg and foot. The anesthetic, surgical and postoperative challenges and considerations are discussed. In addition, the literature on limb surgeries of FOP patients is systemically reviewed. The 44 year-old female patient was scheduled for a through-knee amputation. Airway and pulmonary evaluation elicited severe abnormalities, rendering standard general anesthesia a rather complication-prone approach in this patient. Thus, regional anesthesia, supplemented with intravenous analgosedation and N 2 O-inhalation were performed in this case. The surgery itself was securely planned to avoid any unnecessary tissue damage. Postoperatively the patient was closely monitored for FOP activity by ultrasound and [ 18 F]PET/CT-scan. One year after surgery, a non-significant amount of HO had formed at the operated site. The

Monitoring and Management of Fibrodysplasia Ossificans Progressiva: Current Perspectives

“…Although surgery is relatively contraindicated in FOP patients, as it almost always results in development of additional heterotopic bone, 33 there are some exceptions. Potentially life-saving surgery should not be avoided and has been done with positive outcomes 33 Some cases have been described in which heterotopic bone recurred more extensively than before surgery to remove it, but with a better functional outcome. 34 Minor surgery, such as removal of molars to increase the possibility of solid food intake or relief of an abscess, can be considered but only with precautions mentioned below.…”

“…While locoregional anaesthesia has generally been regarded as contraindicated due to tissue trauma by needle passes, ultrasound-guided regional anaesthesia techniques not requiring needle penetration through muscle and connective tissue, such as ankle blocks, can be considered to avoid the FOP-specific risks associated with general anaesthesia. 33 , 37 It should also be noted that positioning of the patient for surgery can be difficult due to restricted joint mobility but must be performed with utmost care to avoid pressure and tissue injury. 38 These challenges require specialised team members in every stage of the pre-, peri- and post-operative period.…”

Heterotopic Ossification: Clinical Features, Basic Researches, and Mechanical Stimulations

“…Almost all FOP patients reported to date were caused by Acvr1 mutation, and showing abnormality early. Acvr1 gene locates on chromosome 2 (2q23-24) and encodes a bone morphogenetic protein (BMP) type 1 receptor, which is generally considered to be the major regulator in HO pathophysiology ( Wang et al, 2016 ; Haupt et al, 2019 ; Meyers et al, 2019 ; Pearson et al, 2019 ; Stanley et al, 2019 ; Botman et al, 2020 ; Kaliya-Perumal et al, 2020 ). Acvr1 mutation results in abnormally enhanced sensitivity of this receptor to BMPs, allowing for overexcitation of the BMP/SMAD pathway and heterotopic ossification.…”

“…Inquiry about the underlying mechanism, such as cellular and mechanical processes, and earlier diagnoses as well as more effective treatments, is the hotspot of current research. Scientists analyze the proteomic biomarkers to identify early diagnostic indexes based on high-throughput mass spectrometry and antibody arrays; Doctors seek to develop efficacious prophylactic management and specific treatments via physical therapy, pharmaceutical intervention, operation, and radiation ( Yuan et al, 2009 ; Coons and Godleski, 2013 ; Cheng et al, 2017 ; Gomez-Puerto et al, 2019 ; Botman et al, 2020 ). Moreover, patients with a high incidence of traumatic heterotopic ossification, such as fractures and hip joint arthroplasty, need to undergo prolonged postoperative immobilization or early rehabilitation exercises.…”

Surgical and Radiological Management of Complicated Uterine Leiomyoma Aided by 3D Models in a Patient with Fibrodysplasia Ossificans Progressiva

“…The assembly of a multidisciplinary team is paramount to maximize the chance of a successful and safe outcome of surgery [ 4 , 12 ]. Airway management in patients with FOP is challenging because of the presence of cervical spine fusion, ankylosed jaw, thoracic insufficiency syndrome, and restrictive chest wall disease, which can pose life-threatening complications [ 13 ].…”