OBJECTIVES

Long-chain fatty acid oxidation disorders (LC-FAOD) are rare, autosomal recessive genetic disorders that impair energy conversion from long-chain fats. Here, we describe LC-FAOD burden through most impactful symptoms, physical activity, and participation in social activities using an online survey.

METHODS

A sample of patients with LC-FAOD (≥18 years) and caregivers of patients with LC‑FAOD were invited to take an online survey (Confirmit). Patients were to be receiving medical care from a healthcare provider for LC-FAOD, and caregivers must not have been compensated for care. P-values determine significance between each data point and the first data point listed in the comparison.

RESULTS

: Fourteen adult patients and 30 caregivers (of 37 patients) responded to the survey, representing 51 unique patients. Responses were analyzed by age and enzyme deficiency. Age groups were: 0-6 years (n=16), 7-17 years (n=15), and 18+ years (n=20). Enzyme deficiency groups were: long-chain L-3 hydroxyacyl-CoA-dehydrogenase (LCHAD) deficiency (n=20), very-long-chain acyl-CoA-dehydrogenase (VLCAD) deficiency (n=16), carnitine palmitoyltransferase II (CPTII) deficiency (n=13), and trifunctional protein (TFP) deficiency (n=2). Hypoglycemia was in the top 3 (of 12) signs/symptoms in 56% of patients 0-6 years, 13% of patients 7-17 (p=0.02), and 0% of patients 18+ (p<0.001). Physical fatigue was impactful in 87% of patients aged 7-17, 25% of patients 0-6 (p<0.001) and 40% of patients 18+ (p=0.006). Rhabdomyolysis was impactful in 70% of patients 18+ years, 19% of patients 0-6 (p=0.003) and 20% of patients 7-17 (p=0.004). Patients reported requiring special accommodations frequently (LCHAD 45%, CPTII 15%[p=0.08], VLCAD 19%[p=0.11]), and spending most/all rest/relaxation time recuperating (VLCAD 31%, LCHAD 20%[p=0.45], CPTII 8%[p=0.14]).

CONCLUSIONS

: Patients experienced substantial burden due to LC-FAOD. Patients and caregivers experienced great difficulty with symptoms related to energy production, which may evolve through different life stages, vary by enzyme deficiency, and/or cause patients to require special accommodations.