Long-chain fatty acid oxidation disorder (LCFAOD) has a significant impact on patients and their caregivers, according to a new study published in Molecular Genetics and Metabolism Reports. Symptoms related to energy production are particularly impactful and limiting.
“Activities that may be considered normal for many people can prove to be very difficult or impossible for respondents with LCFAOD, with respondents reporting lower physical and mental health-related quality of life measures than the average American,” the researchers said.
Symptoms of LCFAOD include fatigue, muscle pain, weakness, and brain fog.
In the present study, a team of researchers led by Diego Rodriguez from Magnolia Innovation in Hoboken, New Jersey evaluated the impact of LCFAOD on people’s work, school, social activities, and quality of life.
Read more about the symptoms of LCFAOD
The researchers analyzed the answers to 3 different questionnaires of 14 adult patients with LCFAOD who were receiving medical treatment for their disease and 30 caregivers, none of whom were being compensated for their caregiving.
The results showed that LCFAOD had an effect on schooling and working in the majority of patients (59.2% and 84.2%, respectively). The disease also affected work for 70% of caregivers.
Muscle weakness, physical fatigue, and rhabdomyolysis were the symptoms that had the most impact.
Patients had significantly lower than normal scores on both the physical and mental components of the health-related quality of life questionnaire.
The researchers concluded that LCFAOD “[presents] a substantial impact” on patients and their caregivers “due to increased difficulty encountered at school and work and sudden, debilitating symptoms that may be experienced when performing common activities.”
LCFAOD is a group of rare genetic diseases characterized by impaired fat metabolism that leads to acute energy production crises and chronic energy deficiency.
Kruger E, Voorhees K, Thomas N, et al. Understanding the impact of long-chain fatty acid oxidation disorders for patients and caregivers. Mol Genet Metab Rep. Published online August 10, 2022. doi:10.1016/j.ymgmr.2022.100903