BACKGROUND A 56-year-old female, diagnosed as a carrier of the mitochondrial DNA mutation (MTTK c.8344A>G) associated with the MERRF (myoclonic epilepsy with ragged red fibers) syndrome, presented with a relatively uncommon but well-known phenotypic manifestation: severe multiple symmetric lipomatosis (MSL). After surgical resection of three kilograms of upper mid-back lipomatous tissue, the patient experienced a significant decline in her functional capacity and quality of life, which ultimately resulted in her placement on long-term disability. METHODS Dissatisfied with the available treatment options centered on additional resection surgeries, given the high probability of lipoma regrowth, the patient independently researched and applied alternative therapies that centred on a carbohydrate-restricted diet and a supervised exercise program. RESULTS The cumulative effect of her lifestyle interventions resulted in the reversal of her MSL and her previously low quality of life. She met all her personal goals by the one-year mark, including reduced size of the residual post-surgical lipomas, markedly enhanced exercise tolerance, and return to work. She continues to maintain her interventions and to experience positive outcomes at the two-year mark. INTERPRETATION This case report documents the timing and nature of lifestyle interventions in relation to the reversal in growth pattern of her previously expanding and debilitating lipomas. The profound nature of the apparent benefit on lipoma growth demonstrates the intervention's potential as a new feasible non-surgical therapy for mitochondrial-disease-associated MSL, and justifies its systematic study. We also describe how this case has inspired the care team to re-examine its approach to involved patients.

中文翻译：

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自我发起的生活方式干预有助于潜在地了解与多发性对称性脂肪瘤相关的线粒体疾病的有效、替代、非手术疗法

背景 一名 56 岁女性，被诊断为线粒体 DNA 突变 (MTTK c.8344A>G) 的携带者，与 MERRF（肌阵挛性癫痫伴红纤维参差不齐）综合征相关，表现出相对不常见但众所周知的表型表现：严重的多发性对称性脂肪瘤病（MSL）。在手术切除了 3 公斤上背部中背部脂肪瘤组织后，患者的功能能力和生活质量显着下降，最终导致她长期残疾。方法 对以额外切除手术为中心的可用治疗方案不满意，考虑到脂肪瘤再生的可能性很高，患者独立研究并应用了以限制碳水化合物的饮食和有监督的运动计划为中心的替代疗法。结果 她的生活方式干预的累积效应导致她的 MSL 和她以前的低生活质量逆转。一年后，她实现了所有个人目标，包括缩小术后残留脂肪瘤的大小，显着提高运动耐量，并重返工作岗位。她继续维持她的干预措施，并在两年后取得积极成果。解释 本病例报告记录了生活方式干预的时机和性质，与她先前扩大和衰弱的脂肪瘤的生长模式逆转有关。对脂肪瘤生长的明显益处的深远性质证明了干预作为线粒体疾病相关 MSL 的一种新的可行的非手术疗法的潜力，并证明了其系统研究的合理性。