Treatment with triheptanoin for patients with long chain fatty acid oxidation disorder (LCFAOD) may result in fewer hospitalizations and symptoms vs those treated with medium-chain triglycerides (MCTs), according to a study recently published in Molecular Genetics and Metabolism.

A total of 27 patients previously diagnosed with LCFAOD were selected from an electronic platform that holds medical records and prospective patient- and caregiver-reported outcomes (PROs). The data was anonymized to comply with the Health Insurance Portability and Accountability Act of 1996.

Most participants (59.3%) were users of triheptanoin, and 7 (25.9%) compiled a treatment scheme with MCT.  Regardless, all patients admitted to using at least 1 more therapeutic strategy, the most common being fat restriction from the diet in 91.3%, followed by carnitine supplementation in 69.6% of them.


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Likewise, all individuals reported having to intervene at home to avoid a hospital visit. In the past 4 weeks, these interventions happened 2.35 times with a median of 0.5 in the entire group, and 0.7 times with a median of 0.5 vs 5.5 times with a median of 0.5 for triheptanoin users vs MCT users. 

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The most impactful symptoms were mental fatigue and a need to limit exercise, while rhabdomyolysis was also reported. All patients treated with MCT experienced heart and eye conditions, hypoglycemia, and motor, cognitive and speech delays as opposed to the group treated with triheptanoin of whom only 87.5%, 81.3%, 87.5%, 87.5%, 81.3%, and 81.3% had such conditions, respectively.

As for peripheral neuropathy, the MCT-treated group still had more patients reporting it (83.3%) than the triheptanoin group (75.0%). Conversely, muscle weakness or impairment was the only symptom experienced by fewer MCT users (83.3%) vs triheptanoin users (100%).

Regarding the strategies when the symptoms worsened, the vast majority of the patients increased their fluid intake, had sugary food or drinks, and rested in 96.2%, 92.3%, and 92.3% of the cases, respectively.

“PRO data indicated patients with [LCFAOD] employ multiple disease management strategies and must frequently intervene to prevent [emergency room] visits. Patients currently on triheptanoin report needing less frequent [emergency room]/hospital-preventive interventions, with fewer symptoms, compared with patients currently managed on MCT,” the authors concluded.

Reference

Kruger E, Yang E, Thompson A, Reineking B. Management and symptoms of people living with long-chain fatty acid oxidation disorders (LC-FAOD) in the United States: results from LC-FAOD Odyssey Study. Mol Genet Metab. Published online May 2022. doi:10.1016/s1096-7192(22)00204-9