Berry Camryn, Boyce Alison M, Kaban Leonard B, Peacock Zachary S, Mannstadt Michael, Upadhyay Jaymin
PhD Candidate, Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA.
Principal Investigator, Metabolic Bone Disorders Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD.
J Oral Maxillofac Surg. 2025 Mar;83(3):366-373. doi: 10.1016/j.joms.2024.12.001. Epub 2024 Dec 4.
Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a genetic disorder, marked by bone lesions, often affecting the craniofacial skeleton. Pain is a prevalent yet heterogeneous symptom reported by patients with craniofacial FD. Effective treatments are currently lacking, posing a significant clinical challenge to patient care.
This preliminary study examined pain profiles in craniofacial FD and aimed to identify subtypes of patients based on pain phenotypes and emotional health.
STUDY DESIGN, SETTING, SAMPLE: A prospective, cross-sectional study involving 15 patients with FD/MAS, conducted at Boston Children's Hospital and Massachusetts General Brigham's Hospitals.
PREDICTOR/EXPOSURE/INDEPENDENT VARIABLE: Headache frequency, craniofacial pain severity, neuropathic pain quality, pain interference, allodynia, photophobia, depression, and anxiety were assessed using clinical questionnaires.
MAIN OUTCOME VARIABLE(S): The primary outcome variable was the symptom profile derived from standardized clinical questionnaires and analyzed using principal component analysis and K-means clustering.
Covariates included demographic data, diagnosis, and lesion location(s).
Principal component analysis and K-means clustering of patient-reported measures of pain and emotional health were performed. Analysis of variance was conducted to determine significant differences among patient subtypes. Statistical significance was set at (P < .05).
The study included 15 subjects with FD/MAS, with a mean age of 36.2 (13.9) years, including 1 male. Clustering analysis identified 3 subtypes of patients with distinct symptom profiles. Cluster 1 (n = 2) averaged 70 (28.3) headache days in a 90-day period, pain level of 7.5 (0.7) on a 0-10 scale, and severe anxiety, depression, allodynia, photophobia, and pain interference. Cluster 2 (n = 7) patients reported an average of 5.4 (7.5) headache days, an average pain level of 2.7 (2.6), mild or no anxiety, depression, allodynia, photophobia, and pain interference. Cluster 3 (n = 6) patients displayed a mixed symptom profile with an average of 47.3 (36.4) headache days and a pain level of 5.25 (1.4). Notably, patients with temporal and skull base lesions were predominantly found in Clusters 1 and 3, which exhibited the most severe symptomatology.
This study establishes a basis for future longitudinal research aimed at understanding underlying pain mechanisms and evaluating the response to personalized pain management strategies in subtypes of patients with craniofacial FD.
纤维性发育不良/麦库恩-奥尔布赖特综合征（FD/MAS）是一种遗传性疾病，以骨病变为特征，常累及颅面骨骼。疼痛是颅面FD患者普遍存在但异质性的症状。目前缺乏有效的治疗方法，给患者护理带来了重大的临床挑战。
本初步研究检查了颅面FD的疼痛特征，旨在根据疼痛表型和情绪健康状况识别患者亚型。
研究设计、地点、样本：一项前瞻性横断面研究，涉及15例FD/MAS患者，在波士顿儿童医院和马萨诸塞州综合布莱根医院进行。
预测因素/暴露因素/独立变量：使用临床问卷评估头痛频率、颅面疼痛严重程度、神经性疼痛性质、疼痛干扰、痛觉过敏、畏光、抑郁和焦虑。
主要结局变量是从标准化临床问卷得出的症状特征，并使用主成分分析和K均值聚类进行分析。
协变量包括人口统计学数据、诊断和病变位置。
对患者报告的疼痛和情绪健康测量指标进行主成分分析和K均值聚类。进行方差分析以确定患者亚型之间的显著差异。统计学显著性设定为（P <.05）。
该研究纳入了15例FD/MAS患者，平均年龄为36.2（13.9）岁，其中包括1名男性。聚类分析确定了具有不同症状特征的3种患者亚型。第1组（n = 2）在90天内平均有70（28.3）天头痛，疼痛程度在0至10分的量表上为7.5（0.7），伴有严重焦虑、抑郁、痛觉过敏、畏光和疼痛干扰。第2组（n = 7）患者报告平均有5.4（7.5）天头痛，平均疼痛程度为2.7（2.6），伴有轻度或无焦虑、抑郁、痛觉过敏、畏光和疼痛干扰。第3组（n = 6）患者表现出混合症状特征，平均有47.3（36.4）天头痛且疼痛程度为5.25（1.4）。值得注意的是，颞部和颅底病变患者主要集中在第1组和第3组，这两组表现出最严重的症状。
本研究为未来的纵向研究奠定了基础，旨在了解潜在的疼痛机制并评估颅面FD患者亚型对个性化疼痛管理策略的反应。
