Long-chain fatty acid oxidation disorders (LFAOD) cause a substantial burden to patients, caregivers, and healthcare systems alike, according to an analysis based on a claims database. 

The study conducted by Christy Yang, MS, a director in global health economics and outcomes research at Ultragenyx Pharmaceutical Inc., and colleagues also revealed that LCFAOD caused serious symptoms both in children and adults including rhabdomyolysis, hypoglycemia, and cardiomyopathy. A significant proportion of these clinical manifestations required hospitalization lasting more than 1 week.

In adult patients, progressive complications were also common and included neuropathy, myopathy, and hepatic dysfunction. 

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In order to quantify the prevalence of clinical manifestations in adult and pediatric patients with LCFAOD, Yang and colleagues used data from the PearlDiver claims database, which includes information about 122 patients in the US. The researchers identified the clinical manifestations and symptoms of the disease using the ICD-10 diagnosis codes. 

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A total of 863 patients were included in the study. Of those, 77% were children and half were female. 

The most commonly reported clinical manifestations were rhabdomyolysis, hypoglycemia, and cardiomyopathy according to Yang. The prevalence of myopathy, neuropathy, liver dysfunction, fatigue, and pain was much higher among adult patients, the researchers found.

A small proportion of patients (1.3%) were also diagnosed with retinopathy. However, Yang said this clinical manifestation is likely underreported because the ophthalmology-related care may be covered under a separate plan.

Many clinical manifestations occurred more frequently in LCFAOD patients compared to healthy controls. This was the case for both children and adults with the disease. For example, 50% of LCFAOD patients experienced pain, and 15% experienced fatigue. 

Around 28% to 44% of patients required hospitalizations due to the clinical manifestations of the disease. The length of stay in the hospital varied between 6 and 15 days.

The study was presented orally as part of the International Network for Fatty Acid Oxidation Research and Management (INFORM) 2022 virtual lecture series.


Yang E, Kruger E, Thomas N, Chettiah T, Marsden D. Clinical manifestations among pediatric and adult patients with long-chain fatty acid oxidation disorders (LC-FAOD) in the United States: A claims database analysis. Lecture presented as part of International Network for Fatty Acid Oxidation Research and Management (INFORM) 2022 lectures series: January 24, 2022; Virtual.