Khandalavala Birgit, Cuppett Ryder
Department of Family Medicine, University of Nebraska Medical Center, Omaha, USA.
College of Medicine, University of Nebraska Medical Center, Omaha, USA.
Eur J Case Rep Intern Med. 2024 Nov 28;11(12):004922. doi: 10.12890/2024_004922. eCollection 2024.
Mesenteric panniculitis (MP) is a rare clinically diagnosed disease resulting from fibro-inflammation in the intestinal adipose tissue. Precedent intra-abdominal inflammation or trauma is often evident. Fibrous dysplasia (FD) is a benign uncommon childhood disease of the bones, with fibrous connective tissue replacing bone tissue. FD can cause pain, disfigurement, and entrapment of critical neighbouring structures. Adult-onset craniofacial involvement is rare. Metabolic syndrome is characterized by obesity and chronic subclinical inflammation, promoting abnormal cellular fibrosis and proliferation. The concomitant incidence of MP and FD in an older female adult with metabolic syndrome is unprecedented. An aberrant metabolic contributory pathophysiology for both MP and FD could be postulated.
A 60-year-old Caucasian woman with primary long-standing well-treated metabolic syndrome with obesity presented for revision bariatric surgery. She had previous intra-abdominal surgeries and occasional intermittent abdominal pain. The surgery was abandoned due to extensively inflamed intestinal mesentery. Radiological studies and intra-abdominal biopsy confirmed MP. She subsequently developed pronounced unilateral facial swelling and radiological studies confirmed FD. Treatment has been suboptimal for both MP and FD. She developed venous thromboembolism on tamoxifen treatment for MP. The patient currently reports abdominal pain and swelling from MP, and facial disfigurement, pain, and tinnitus from FD. Blood markers for inflammation have remained consistently high, and there is statin intolerance. Most recently liver steatosis and diabetes have developed.
A case of MP and FD with primary metabolic syndrome is unique. An increased awareness of such rare cases could lead to further research, and critically needed treatments to optimize outcomes.
Mesenteric panniculitis (MP) is a rare disease as is craniofacial fibrous dysplasia (FD) in adults. The incidence of these two rare diseases in an older adult with primary metabolic syndrome is previously unknown, making this case the first of its kind.Metabolic syndrome is common condition of the industrialized population, and an aberrant common "systemic" metabolic pathophysiology could contribute significantly to the inflammatory and fibrotic cellular changes inherent to both these two localized diseases of MP and FD.Knowledge about rare diseases, particularly if clustered with a primary systemic disease, could lead to better treatment outcomes in the future and promote novel therapeutic targets.
肠系膜脂膜炎（MP）是一种临床诊断罕见的疾病，由肠道脂肪组织的纤维性炎症引起。既往腹腔内炎症或创伤往往很明显。纤维发育不良（FD）是一种儿童期罕见的良性骨病，纤维结缔组织取代骨组织。FD可导致疼痛、畸形以及压迫临近重要结构。成人期颅面部受累罕见。代谢综合征以肥胖和慢性亚临床炎症为特征，会促进异常细胞纤维化和增殖。一名患有代谢综合征的老年女性同时发生MP和FD的情况前所未见。可以推测MP和FD存在异常的代谢性病理生理机制。
一名60岁的白种女性，患有经长期良好治疗的原发性代谢综合征伴肥胖，前来接受减重手术翻修。她既往有腹腔内手术史，偶尔有间歇性腹痛。由于肠系膜广泛炎症，手术取消。影像学检查和腹腔活检确诊为MP。随后她出现明显的单侧面部肿胀，影像学检查确诊为FD。对MP和FD的治疗效果均欠佳。她在接受他莫昔芬治疗MP时发生了静脉血栓栓塞。患者目前诉说有MP导致的腹痛和肿胀，以及FD导致的面部畸形、疼痛和耳鸣。炎症血液标志物一直居高不下，且存在他汀不耐受。最近还出现了肝脂肪变性和糖尿病。
原发性代谢综合征合并MP和FD的病例很独特。提高对这类罕见病例的认识可能会推动进一步研究以及急需的治疗方法，以优化治疗效果。
肠系膜脂膜炎（MP）是一种罕见疾病，成人颅面部纤维发育不良（FD）也是如此。这两种罕见疾病在一名患有原发性代谢综合征的老年人中同时发生的情况此前未知，使得该病例成为首例。代谢综合征是工业化人群的常见病症，异常的共同“全身性”代谢病理生理机制可能对MP和FD这两种局部疾病固有的炎症和纤维化细胞变化有显著影响。了解罕见疾病，特别是如果与原发性全身性疾病聚集发生时，可能会在未来带来更好的治疗效果，并推动新的治疗靶点的发现。
