Background: Caveolae are abundant cell-surface organelles involved in lipid regulation and endocytosis (1). Mutations in the PTRF gene, which encodes a caveolae-associated protein, cause congenital generalized lipodystrophy (CGL) associated with myopathy (2) and symptoms such as abnormal glucose and lipid metabolism, cardiac arrhythmias, nephropathy, growth disturbances, and skeletal anomalies (3). However, there are no reports regarding anesthesia in patients with PTRF mutations.
Case report: A 29-year-old man (height, 126 cm; weight, 22 kg) with PTRF mutations was scheduled for mandibular dentigerous cystectomy. His primary symptoms were CGL, myopathy, long QT syndrome, refractory nephrosis, and abnormal lipid metabolism. Anesthesia was induced with continuous dexmedetomidine administration (DEX, 4 μg/kg/h) for 15 min; midazolam (7 mg) was added while monitoring bispectral index and physical reactions. Remifentanil (100 μg) and rocuronium (10 mg) were added immediately before endotracheal intubation. The operator used local anesthesia, and DEX and remifentanil were continuously administered during the operation according to invasiveness. For immediate response to possible fatal arrhythmia, defibrillator pads were applied soon after the patient entered the operating room and kept until the next day. The operation was uneventful, and he was extubated after administration of sugammadex and flumazenil. Despite not undergoing the standard anesthetic method, the patient reported that he was comfortable and unaware during the procedure. 
Discussion: There were three major anesthesia-related concerns in this patient: (1) avoiding the use of inhalation anesthesia because of the high risk for malignant hyperthermia; (2) avoiding propofol because of the patient’s abnormal lipid metabolism; and (3) avoiding arrhythmia, especially Torsades de pointes. The method chosen was adequate given the small scope and short duration of the operation.
References:
1.	Hill MM, Bastiani M, Luetterforst R, et al. Cell. 2008; 132(1):113-24.
2.	Ardissone A, Bragato C, Caffi L, et al. BMC. Med. Genet. 2013; 14:89.
3.	Hayashi YK, Matsuda C, Ogawa M, et al. J. Clin. Invest. 2009; 119(9):2623-33. 
Learning points: To avoid malignant hyperthermia in patients with PTRF mutations who exhibit abnormal lipid metabolism and are at risk for cardiac arrhythmia, anesthesiologists must ensure careful planning. In this case, anesthesia was administered without inhalation agents or lipid-soluble drugs.

Anesthesia for patients with PTRF mutations