The effect of triheptanoin treatment on clinical and laboratory outcomes in patients with long-chain fatty acid oxidation disorder.

UNLABELLED

Long-chain fatty acid oxidation disorders (LC-FAOD) are a rare metabolic condition that results in impaired fatty acid utilization, leading to metabolic crises, hospitalization, and reduced quality of life. Despite dietary management, many patients experience ongoing complications. Triheptanoin, a seven-carbon triglyceride, has emerged as a therapeutic alternative by providing an energy source and supporting metabolic stability. This study aims to evaluate the clinical outcomes of LC-FAOD patients receiving triheptanoin therapy in Türkiye. A retrospective nationwide study was conducted to analyze 14 patients with LC-FAOD who received oral triheptanoin as part of a compassionate use program in Türkiye. The study collected data on emergency department visits, hospitalizations, metabolic decompensation episodes, creatine kinase (CK) levels, hypoglycemia, and cardiac function. Additionally, patient-reported outcomes were assessed through surveys. The findings of the study demonstrated that triheptanoin treatment led to a significant reduction in the number of emergency service applications and hospitalizations per month (p < 0.01). A notable decrease in the frequency of myalgia attacks was observed, while the decline in rhabdomyolysis episodes did not reach statistical significance. Furthermore, creatine kinase levels during metabolic crises exhibited a substantial decrease following triheptanoin therapy (p < 0.0001).Among patients with cardiomyopathy, cardiac function showed improvement in four out of seven patients. Survey data indicated an improvement in appetite, physical performance, and overall quality of life.

CONCLUSION

Triheptanoin treatment has been demonstrated to be associated with significant clinical improvements in patients diagnosed with LC-FAOD, including a reduction in the frequency of emergency department visits, hospitalizations, and metabolic crises. These findings provide support for the utilization of triheptanoin as a therapeutic approach that holds promise in the management of LC-FAOD.

WHAT IS KNOWN

• Long-chain fatty acid oxidation disorders (LC-FAOD) are associated with significant morbidity due to metabolic crises, despite conventional dietary treatment including medium-chain triglycerides (MCT).

WHAT IS NEW

• This nationwide study demonstrates that triheptanoin therapy significantly reduces emergency visits, hospitalizations, and creatine kinase levels during crises, and improves patient-reported outcomes, including physical activity and quality of life, in LC-FAOD patients in Türkiye.