Gao Rui, Gu Lihua, Zuo Wenchao, Wang Pan
Department of Neurology, Tianjin Huanhu Hospital, Nankai University, Tianjin, China.
Front Neurol. 2024 Dec 4;15:1491283. doi: 10.3389/fneur.2024.1491283. eCollection 2024.
MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes) is a common subtype of mitochondrial encephalomyopathy. However, few studies have explored the relationship between biochemical markers and prognosis. This study aimed to explore the relationship between clinical and biochemical markers and prognosis of patients with MELAS.
This was a retrospective single-center study. A total of 39 MELAS patients were followed for an average of 7.3 ± 4.7 (range 1-21 years). All patients underwent detailed demographic registration, neurological examinations, biochemical and mitochondrial DNA analyses, muscle biopsy. Throughout the follow-up period, the modified Rankin Scale (mRS) scores, recurrent strokes rates, and mortality were tracked.
All patients initially presented with stroke-like episodes. Of the 39 subjects who were followed, 8 died, primarily due to acute stroke-like episodes and status epilepticus. Univariate analysis showed a higher risk of mortality in patients with severe lactate elevation compared to those with normal and mildly elevated levels (OR = 5.714, 95% CI 1.086-30.071, = 0.040). While the absence of anemia was associated with a lower risk of death compared to those with anemia (OR = 0.175, 95% CI 0.033-0.921, = 0.040). In multivariate analysis, severe lactate elevation (OR = 7.279, 95% CI 1.102-48.086, = 0.039) and anemia (OR = 0.137, 95% CI 0.021-0.908, = 0.039) were identified as independent predictors of mortality. MRS scores were categorized as follows: 41% of patients scored 0 to 2, 38.5% scored 3 to 5, and 20.5% had a score of 6 or had died. There was a positive correlation between lactic acid levels and MRS scores (r = 0.460, = 0.003). In contrast, hemoglobin levels were negatively correlated with MRS scores (r = -0.375, = 0.015). Furthermore, a positive correlation was observed between MRS scores and the frequency of stroke-like episodes (r = 0.280, = 0.042).
Our study found that the majority of patients with MELAS had poor clinical outcomes. Anemia and significantly increased lactate levels were identified as indicators of poor prognosis in MELAS. Early intervention may lead to improvements in clinical outcomes.
MELAS（线粒体脑肌病伴乳酸血症和卒中样发作）是线粒体脑肌病的一种常见亚型。然而，很少有研究探讨生化标志物与预后之间的关系。本研究旨在探讨MELAS患者的临床和生化标志物与预后之间的关系。
这是一项回顾性单中心研究。共对39例MELAS患者进行了平均7.3±4.7年（范围1 - 21年）的随访。所有患者均接受了详细的人口统计学登记、神经系统检查、生化和线粒体DNA分析、肌肉活检。在整个随访期间，跟踪改良Rankin量表（mRS）评分、复发性卒中发生率和死亡率。
所有患者最初均表现为卒中样发作。在随访的39名受试者中，8人死亡，主要原因是急性卒中样发作和癫痫持续状态。单因素分析显示，与乳酸水平正常和轻度升高的患者相比，乳酸严重升高的患者死亡风险更高（OR = 5.714，95% CI 1.086 - 30.071，P = 0.040）。与贫血患者相比，无贫血与较低的死亡风险相关（OR = 0.175，95% CI 0.033 - 0.921，P = 0.040）。多因素分析中，乳酸严重升高（OR = 7.279，95% CI 1.102 - 48.086，P = 0.039）和贫血（OR = 0.137，95% CI 0.021 - 0.908，P = 0.039）被确定为死亡的独立预测因素。mRS评分分类如下：41%的患者评分为0至2分，38.5%评分为3至5分，20.5%的患者评分为6分或已死亡。乳酸水平与mRS评分呈正相关（r = 0.460，P = 0.003）。相反，血红蛋白水平与mRS评分呈负相关（r = -0.375，P = 0.015）。此外，观察到mRS评分与卒中样发作频率之间呈正相关（r = 0.280，P = 0.042）。
我们的研究发现，大多数MELAS患者临床预后较差。贫血和乳酸水平显著升高被确定为MELAS预后不良的指标。早期干预可能会改善临床结局。
