Bareja Naman, Chionatos Rafail A, Valhuerdi Porto Camelia, Srinivasan Nikita, Ghasemi Mehdi
Neurology, Tufts Medical Center, Boston, USA.
Neurology, Lahey Hospital and Medical Center, Burlington, USA.
Cureus. 2025 Jan 1;17(1):e76772. doi: 10.7759/cureus.76772. eCollection 2025 Jan.
Lipin-1 () is essential in lipid metabolism, with mutations commonly causing severe, recurrent rhabdomyolysis, especially in children. Here, we present a rare case of adult-onset myopathy and rhabdomyolysis in a 48-year-old male firefighter, a heterozygous carrier of an exon 18 deletion. The patient experienced fatigue, muscle loss, and exercise intolerance over two to three years. Initial evaluations revealed mildly elevated creatine kinase (CK) levels (297 U/L), with unremarkable results from further tests, including electromyography, antinuclear antibodies, myasthenia gravis antibody, and myositis antibody panels. Six months later, he had worsening muscle stiffness, pain, and darkened urine. In the emergency department, his CK was 4000 U/L, with elevated aldolase and transaminases. Hospitalization and hydration treatment normalized his CK levels. Genetic testing through a Comprehensive Neuromuscular Disorder Panel identified a heterozygous exon 18 deletion. To our knowledge, this case is significant as the first reported instance of adult-onset myopathy and rhabdomyolysis in a heterozygous carrier without statin exposure. While mutations typically cause pediatric-onset rhabdomyolysis, this case highlights the need to consider mutations in adults with episodic myopathy and rhabdomyolysis when other causes are ruled out. Genetic testing is crucial for diagnosis and management.
脂联素-1（）在脂质代谢中至关重要，其突变通常会导致严重的复发性横纹肌溶解症，尤其是在儿童中。在此，我们报告一例罕见的成年发病型肌病和横纹肌溶解症病例，患者为一名48岁男性消防员，是外显子18缺失的杂合子携带者。患者在两到三年间出现疲劳、肌肉萎缩和运动不耐受症状。初始评估显示肌酸激酶（CK）水平轻度升高（297 U/L），进一步检查结果无异常，包括肌电图、抗核抗体、重症肌无力抗体和肌炎抗体检测。六个月后，他的肌肉僵硬、疼痛加重，尿液颜色变深。在急诊科，他的CK为4000 U/L，醛缩酶和转氨酶升高。住院及补液治疗使他的CK水平恢复正常。通过综合神经肌肉疾病检测进行的基因检测发现了外显子18杂合缺失。据我们所知，该病例意义重大，是首例报道的未接触他汀类药物的杂合子携带者成年发病型肌病和横纹肌溶解症。虽然突变通常导致儿童期发病的横纹肌溶解症，但该病例强调，在排除其他病因后，对于患有发作性肌病和横纹肌溶解症的成年人，需要考虑突变情况。基因检测对诊断和治疗至关重要。
