Dataset Information

Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure.

ABSTRACT:

Background

In all patients with mucopolysaccharidosis type I (MPS I), skeletal disease (dysostosis multiplex) is a prominent, debilitating, condition related complication that may impact strongly on activities of daily living. Unfortunately, it is not alleviated by treatment with hematopoietic cell transplantation (HCT) or enzyme replacement therapy (ERT). Although early kyphosis is one of the key features of dysostosis multiplex, there is no international consensus on the optimal management. Therefore, an international consensus procedure was organized with the aim to develop the first clinical practice guideline for the management of thoracolumbar kyphosis in MPS I patients.

Methods

A literature review was conducted to identify all available information about kyphosis and related surgery in MPS I patients. Subsequently, a modified Delphi procedure was used to develop consensus statements. The expert panel included 10 spinal orthopedic surgeons, 6 pediatricians and 3 physiotherapists, all experienced in MPS I. The procedure consisted of 2 written rounds, a face-to-face meeting and a final written round. The first 2 rounds contained case histories, general questions and draft statements. During the face-to-face meeting consensus statements were developed. In the final round, the panel had the opportunity to anonymously express their opinion about the proposed statements.

Results

Eighteen case series and case reports were retrieved from literature reporting on different surgical approaches and timing of thoracolumbar kyphosis surgery in MPS I. During the face-to-face meeting 16 statements were discussed and revised. Consensus was reached on all statements.

Conclusion

This international consensus procedure resulted in the first clinical practice guideline for the management of thoracolumbar kyphosis in MPS I patients, focusing on the goals and timing of surgery, as well as the optimal surgical approach, the utility of bracing and required additional assessments (e.g. radiographs). Most importantly, it was concluded that the decision for surgery depends not only on the kyphotic angle, but also on additional factors such as the progression of the deformity and its flexibility, the presence of symptoms, growth potential and comorbidities. The eventual goal of treatment is the maintenance or improvement of quality of life. Further international collaborative research related to long-term outcome of kyphosis surgery in MPS I is essential as prognostic information is lacking.

SUBMITTER: Kuiper GA

PROVIDER: S-EPMC6339313 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature

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Publications

Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure.

Kuiper Gé-Ann GA Langereis Eveline J EJ Breyer Sandra S Carbone Marco M Castelein René M RM Eastwood Deborah M DM Garin Christophe C Guffon Nathalie N van Hasselt Peter M PM Hensman Pauline P Jones Simon A SA Kenis Vladimir V Kruyt Moyo M van der Lee Johanna H JH Mackenzie William G WG Orchard Paul J PJ Oxborrow Neil N Parini Rossella R Robinson Amy A Schubert Hjalmarsson Elke E White Klane K KK Wijburg Frits A FA

Orphanet journal of rare diseases 20190118 1

<h4>Background</h4>In all patients with mucopolysaccharidosis type I (MPS I), skeletal disease (dysostosis multiplex) is a prominent, debilitating, condition related complication that may impact strongly on activities of daily living. Unfortunately, it is not alleviated by treatment with hematopoietic cell transplantation (HCT) or enzyme replacement therapy (ERT). Although early kyphosis is one of the key features of dysostosis multiplex, there is no international consensus on the optimal manage ...[more]

PMID: 30658664

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Project description:BACKGROUND: Mucopolysaccharidosis type I (MPS I) is traditionally divided into three phenotypes: the severe Hurler (MPS I-H) phenotype, the intermediate Hurler-Scheie (MPS I-H/S) phenotype and the attenuated Scheie (MPS I-S) phenotype. However, there are no clear criteria for delineating the different phenotypes. Because decisions about optimal treatment (enzyme replacement therapy or hematopoietic stem cell transplantation) need to be made quickly and depend on the presumed phenotype, an assessment of phenotypic severity should be performed soon after diagnosis. Therefore, a numerical severity scale for classifying different MPS I phenotypes at diagnosis based on clinical signs and symptoms was developed. METHODS: A consensus procedure based on a combined modified Delphi method and a nominal group technique was undertaken. It consisted of two written rounds and a face-to-face meeting. Sixteen MPS I experts participated in the process. The main goal was to identify the most important indicators of phenotypic severity and include these in a numerical severity scale. The correlation between the median subjective expert MPS I rating and the scores derived from this severity scale was used as an indicator of validity. RESULTS: Full consensus was reached on six key clinical items for assessing severity: age of onset of signs and symptoms, developmental delay, joint stiffness/arthropathy/contractures, kyphosis, cardiomyopathy and large head/frontal bossing. Due to the remarkably large variability in the expert MPS I assessments, however, a reliable numerical scale could not be constructed. Because of this variability, such a scale would always result in patients whose calculated severity score differed unacceptably from the median expert severity score, which was considered to be the 'gold standard'. CONCLUSIONS: Although consensus was reached on the six key items for assessing phenotypic severity in MPS I, expert opinion on phenotypic severity at diagnosis proved to be highly variable. This subjectivity emphasizes the need for validated biomarkers and improved genotype-phenotype correlations that can be incorporated into phenotypic severity assessments at diagnosis.

Project description:BackgroundTo investigate whether thoracolumbar kyphosis (TLK) of the spine is related to the reduction of bone mineral density (BMD) in postmenopausal osteoporosis women, and whether BMD of postmenopausal osteoporosis women can predict the occurrence of TLK.MethodsThis retrospective cohort study included 224 postmenopausal female patients hospitalized for osteoporosis from December 2017 to December 2020, and the control group included 270 postmenopausal female patients hospitalized for thoracolumbar degenerative diseases. The age, body mass index (BMI), visual analogue scale (VAS), and BMD of the lumbar spine [BMD(L)] and femoral neck [BMD(F)] of all patients during admission were recorded. We measured and recorded the Cobb angle of thoracolumbar and the height of the thoracolumbar intervertebral space in the spinal X-ray lateral radiograph. The Pearson and Spearman correlation coefficients were used to calculate the correlation between each parameter in the group. The Chi-square test was used for categorical variables, the independent-sample t-test was used for normally distributed continuous variables, and two-sample non-parametric tests were used for non-normally distributed variables. Binary logistic regression analysis and receiver operating characteristic (ROC) curves were applied to determine independent risk factors and cut-off values, respectively.ResultsThere were significant differences in the BMD(L), BMD(F), thoracolumbar junction Cobb angle, lumbar spine Cobb angle, T11/12-L1/2 height difference of the posterior and anterior edge of intervertebral space (HDPAIS), single vertebra Cobb angle (SVC), procollagen type 1 N-terminal propeptide (PINP) and 25-hydroxyvitamin D [25-(OH)D] between the study and control groups. Through binary logistic regression analysis, we found that BMD(L), PINP, bone alkaline phosphatase, and 25-(OH)D were independent risk factors for future TLK in postmenopausal women. According to the ROC curve, the prediction accuracy of BMD(L) was the highest. By calculating the critical value, we found that when the BMD(L) T-score <-1.65, postmenopausal women were more likely to develop TLK.ConclusionsIn postmenopausal osteoporosis patients, TLK will occur even if there is no compression fracture, and when the BMD(L) T-score <-1.65, postmenopausal women are more likely to develop TLK in the future.

Project description:ObjectiveJunctional kyphosis is a common complication after corrective long spinal fusion for adult spinal deformity. Whereas there is still a paucity of data on junctional kyphosis, specifically among late posttraumatic thoracolumbar kyphosis (LPTK) patients. Thus, the aim of this study was to investigate the characteristics and risk factors of junctional kyphosis in LPTK patients receiving long segmental instrumented fusion.MethodsWe retrospectively reviewed a cohort of LPTK patients who had received long segmental instrumented fusion (>4 segments) in our center between January 2012 and January 2019. Radiographic assessments included the sagittal alignment, pelvic parameters, bone quality on CT images, and measurements of the cross-sectional area (CSA, cross-sectional area of muscle-vertebral body ratio × 100) and fat saturation fraction (FSF, cross-sectional area of fat-muscle body ratio × 100) of paraspinal muscles. Patients in this study were divided into those with junctional kyphosis or failure (Group J) and those without (Group NJ) during follow-up. Group J included patients with junctional kyphosis (Group JK) and patients with junctional failure (Group JF).ResultsA total of 65 patients (16 males and 49 females, average age 56.5 ± 23.4 years) were enrolled in this study. After (32.7 ± 8.5) months follow-up, 15 patients (23.1%) experienced junctional kyphosis, and four of them deteriorated into junctional failure. Eighty percent (12/15) of junctional kyphosis was identified within 6 months after surgery. In comparison with Group NJ, Group J were older (P = 0.026), longer fusion levels (P < 0.001), greater thoracic kyphosis (P = 0.01), greater global kyphosis (P = 0.023), lower bone quality (P < 0.001), less CSA (P = 0.005) and higher FSF (P <0.001) of paraspinal muscles. Preoperative global kyphosis more than 48.5° (P = 0.001, odds ratio 1.793) and FSF more than 48.4 (P = 0.010, odds ratio 2.916) were identified as independent risk factors of junctional kyphosis. Based on the statistical differences among Group NJ, Group JK and Group JF (P < 0.001), Group JF had lower bone quality than Group NJ (P < 0.001) and Group JK (P = 0.015). In terms of patient-reported outcomes, patients in Group JF had worse outcomes in ODI and VAS scores, and PCS and MCS of SF-36 than Group NJ and group JK CONCLUSION: The prevalence of junctional kyphosis was 23.1% in LPTK patients after long segmental instrumented fusion. Preoperative hyperkyphosis and advanced fatty degeneration of paraspinal muscles were independent risk factors of junctional kyphosis. Patients with lower bone quality were more likely to develop junctional failure.

Project description:Childhood spinal tuberculosis, especially when associated with severe vertebral destruction of more than two vertebral bodies can end up in severe deformity. These children show progressive deformity throughout the period of growth and can develop severe kyphosis of >100°. Such kyphosis is severely disabling with significant risk of neurological deficit and respiratory compromise. Surgical correction of these deformities by both anterior and posterior approaches has been described but each have serious limitations of approach, correctability and safety. We describe here a technique of posterior closing-anterior opening osteotomy, which allowed us to correct a rigid post-tubercular deformity of 118° in a 13-year-old boy with neglected spinal tuberculosis. The patient was a 13-year-old boy, who had contracted spinal tuberculosis at the age of 6 years. Although the disease was cured by anti-tubercular chemotherapy, he continued to deteriorate in deformity and presented to us with severe thoracolumbar kyphosis (118°). He was neurologically intact but was beginning to show shortness of breath on exertion. Patient also had fore shortening of the trunk with impingement of the rib cage on the iliac crest. Radiographs revealed complete destruction of T12, L1 and L2 vertebral bodies with the T11 vertebra fusing with L3 anteriorly. CT scans and MRI revealed severe collapse of the vertebral column and the spinal cord being stretched over the 'internal gibbus', which was formed by the remnants of the destroyed vertebrae. A single stage closing-opening osteotomy was done by a midline posterior approach with continuous intraoperative spinal cord monitoring. The procedure involved extensive laminectomy of T11-L2, pedicle screw fixation of three levels above and three levels below the apex, a wedge osteotomy at the apex of the deformity from both sides, anterior column reconstruction by appropriate-sized titanium cage and gradual correction of deformity by closing the posterior column using the cage as a fulcrum. This allowed us to achieve a correction to 38° (68% correction). There was no intraoperative or perioperative adverse event and patient had good functional and radiological outcome at 1-year follow-up. In this Grand Rounds case presentation, we have also discussed the aetiology and evolution of severe post-tubercular kyphosis, which is the most common cause of spinal deformity in the developing world. Early identification of children at risk for severe deformity, the time and ideal methods of prevention of such deformities are discussed. The pros and cons of the available options of surgical correction of established deformity and the merits of our surgical technique are discussed.

Dataset Information

Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure.

Background

Methods

Results

Conclusion

Publications

Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure.

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