Long-chain fatty acid oxidation disorders (LC-FAOD) are a category of uncommon autosomal-recessive hereditary illnesses defined by metabolic deficits in which the organism is unable to metabolize long-chain fatty acids into energy. However, there is still a lack of awareness of the LC-FAOD patient experience. The symptoms, visible indicators, and quality of life (QoL) consequences associated with LC-FAOD were investigated using a focus group (n=8) and semi-structured interviews (n=6) with patients and carers of patients with LC-FAOD, as well as interviews (n=4) with expert doctors. Thematic analysis was used to assess the data, and the results were presented in a conceptual model. Participants reported a wide variety of signs and symptoms associated with LC-FAOD, which were roughly classified as musculoskeletal, endocrine/nutritional/metabolic, neurological, gastrointestinal/digestive, sensory, cardiovascular, respiratory, urological, and constitutional. 

It has been observed that LC-FAOD has a considerable influence on several elements of patients’ lives, including physical functioning, involvement in daily activities, emotional/psychological well-being, and social functioning. Because of the disease, lifestyle changes (such as food and activity limits) were required. Symptoms were often episodic, developing or worsening during catabolic situations such as extended exercise, fasting, physiological stress, and illness/infection. Symptoms were very frequently reported to result in trips to the emergency department, hospitalization, and clinical consequences.