A CLINICAL CASE REPORT: MANAGING HYPERLIPIDEMIA, HYPERTRIGLYCERIDEMIA, HYPERLACTATEMIA AND HYPONATREMIA IN A MELAS PATIENT VIA DOUBLE FILTRATION PLASMAPHERESIS IN CONTINUOUS RENAL REPLACEMENT THERAPY

Introduction:

MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes) is a rare condition that typically starts in childhood, usually between the ages of two and fifteen, primarily impacting the nervous system and muscles. We herein report a critically ill 20-year-old patient with MELAS presented with acid-base imbalances, including low sodium, high cholesterol, high lactate, and elevated triglycerides. The patient was treated with CRRT (Continuous Renal Replacement Therapy) using double filtration plasmapharesis. 

Methods:

This 20-year-old female patient has experienced episodic loss of consciousness for the past two months, worsening in the last two days. Two months ago, she had a panic attack during sleep, followed by a loss of consciousness characterized by upward eye gaze, purplish lips, clenched teeth, a right head tilt, and limb rigidity, but without foaming, twitching, or incontinence. Accompanied by a headache, these episodes led to a diagnosis of mitochondrial encephalomyopathy (MELAS) based on MRI and muscle biopsy results. The full length of the blood mitochondrial gene showed that the m.3243A>G was about 34.09%. 

She was treated with antiepileptic and symptomatic medications. Recently, she had a recurrence of convulsions and loss of consciousness, prompting a review of her MRI, which showed an increase in the size of a previously noted intracranial lesion. She was admitted to the Neurology department for further evaluation and management, receiving levetiracetam, sodium valproate, and other treatments to control her seizures. After the seizure, the patient had swelling and pain in her forehead and vomited after taking ibuprofen. She was admitted to a local hospital, where her family reported seizures every 2-3 minutes, each lasting about a minute. A cranial MRI revealed an abnormal signal in the left temporal parieto-occipital cortex, and mitochondrial gene analysis showed 34.09%. A lumbar puncture indicated an initial pressure of 185 mmH2O. Following treatment with acyclovir, methylprednisolone, gammaglobulin, and levetiracetam, her symptoms improved, and she did not have further seizures. Additional tests were conducted to assess her condition. Upon discharge, she was diagnosed with Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS), sinus tachycardia, fatty liver, paranasal sinusitis, and bilateral maxillary sinus cysts. She was discharged with stable vital signs and scheduled for outpatient follow-up. A few days later, after the endocrinology consultation, it was found that the patient's serum sodium was low and lactate, cholesterol, and triglycerides were elevated. It was recommended to use Lipinz 200 mg/d qod and atorvastatin 10 mg/d. Due to the patient's high blood lipid and other metabolic disorders, the nephrology department consulted and advised: "The patient's current condition is critical, the acid-base balance was disturbed, and he had severe high triglyceride and high cholesterol, so DFPP can be considered.

On the same day, a temporary double-lumen catheter was successfully placed in the right femoral vein using ultrasound guidance and the Seldinger method, reaching a depth of 25 cm. The catheter was flushed with saline, secured with double flanks, and covered with aseptic dressings. After one session of DFFP treatment with plasma Component Separator EC-50W, the patient's serum triglycerides, cholesterol, lactate, sodium, and all other electrolytes returned to normal. DFPP (double filtration plasmapheresis) is carried out as directed, with cannulation and stabilization of the right femoral vein under the protocol of the CRRT nephrology department of our hospital. Once the DFPP treatment is finished, the blood is returned to the treatment mode. A temporary catheter was securely placed in the right femoral vein for the treatment of hyperlipidemia, utilizing a plasma separator. The plasma separator and extracorporeal circulation line have been upgraded, including enhancements to the plasma component separator and prefiltration of venous blood gas. DFPP was performed as prescribed, with the right femoral vein cannulated and stabilized. After completing the DFPP treatment, the blood was returned to the treatment mode. The vascular access site, noted as the right femoral vein, was established. The plasma component separator (EC-50W) has an estimated treatment time of 3-4 hours, with a blood flow rate of 130 ml/min and plasma separation speed of 1500 ml/h. The disposal rate is set at 200 ml/h, with anticoagulation achieved through low molecular weight heparin and 4% sodium citrate, starting with an initial dose of 2000 U and maintenance at 0 U/h. The sodium citrate rate is 130 ml/h, and blood gas monitoring consists of prefiltration venous blood gas, assessed at both upper and lower machine points. A 30% sodium heparin solution is used for sealing, with tube closure conducted at the end of treatment and routinely checked every 24 hours, depending on the dressing material.

Results:

Before admission for Continuous Renal Replacement Therapy (CRRT), the patient's serum triglycerides were at a critically high level of 68.26 mmol/L, which decreased to a normal level of 3.75 mmol/L after treatment. Similarly, serum cholesterol levels dropped from 17.83 mmol/L before CRRT to a normal 1.96 mmol/L afterward. The LDL cholesterol levels also fell significantly, from 4.47 mmol/L to 0.16 mmol/L, both before and after CRRT, respectively. Additionally, serum sodium levels improved from 123.3 mmol/L to a normal 142.9 mmol/L following treatment. Plasma lactate levels were high at 19.8 mmol/L before CRRT but decreased to 3.03 mmol/L after the procedure. Finally, HDL cholesterol levels rose from a dangerously low 0.08 mmol/L prior to CRRT to a normal level of 1.6 mmol/L post-treatment.

Conclusions:

The patient was discharged after a two days of follow-up from the neurology department; the patient did not complain of dizziness, headaches, or other special discomforts. There were no new positive signs on physical examination. I have no potential conflict of interest to disclose.

I have no potential conflict of interest to disclose.

I did not use generative AI and AI-assisted technologies in the writing process.