Qualitative evaluation of the symptoms and quality of life impacts of long-chain fatty acid oxidation disorders

Abstract

Background: Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of rare autosomal-recessive genetic disorders characterized by metabolic deficiencies in which the body is unable to convert long-chain fatty acids into energy. To date, however, there is limited understanding of the patient experience of LC-FAOD. Methods: The symptoms, observable signs, and quality of life (QoL) impacts associated with LC-FAOD were explored via a focus group ( n = 8) and semi-structured interviews ( n = 6) with patients and caregivers of patients with LC-FAOD, and interviews ( n = 4) with expert clinicians. Data were analyzed via thematic analysis and summarized in a conceptual model. Results: Participants reported a wide range of signs and symptoms associated with LC-FAOD, broadly categorized as musculoskeletal, endocrine/nutritional/metabolic, neurological, gastrointestinal/digestive, sensory, cardiovascular, respiratory, urological, and constitutional. LC-FAOD were reported to have a significant impact on various aspects of patients’ lives including physical functioning, participation in daily activities, emotional/psychological wellbeing, and social functioning. Lifestyle modifications (such as diet and exercise restrictions) were necessary because of the condition. Symptoms were typically episodic in presentation often arising or exacerbated during catabolic conditions such as prolonged exercise, fasting, physiological stress, and illness/infection. Symptoms were also commonly reported to lead to emergency room visits, hospitalization, and clinical complications. Conclusion: LC-FAOD have a considerable impact on patients’ lives. There is a high degree of concordance in the signs, symptoms, and impacts of LC-FAOD reported by patients, caregivers, and clinicians; however, there were many symptoms and impacts that were only reported by patients and caregivers, thus demonstrating that insights from patient/caregiver experience data are integral for informing medical product development and facilitating patient-centered care.

Psychosocial issues and coping strategies in families affected by long‐chain fatty acid oxidation disorders

“…Only few studies have focused on the QoL of patients and caregivers with metabolic disorders, and especially, studies on patients with lcFAODs are scarce. Williams‐Hall et al have recently investigated the QoL impacts associated with lcFAODs via a focus group and semi‐structured interviews with a small number of patients, caregivers, and expert clinicians 11 . In this study, lcFAODs were reported to have a significant impact on various aspects of patients' lives including physical functioning, participation in daily activities, emotional/psychological well‐being, and social functioning 11 .…”

“…Williams‐Hall et al have recently investigated the QoL impacts associated with lcFAODs via a focus group and semi‐structured interviews with a small number of patients, caregivers, and expert clinicians 11 . In this study, lcFAODs were reported to have a significant impact on various aspects of patients' lives including physical functioning, participation in daily activities, emotional/psychological well‐being, and social functioning 11 . The aims of this study were to (1) describe the challenges of parents and caregivers to care for a child with a lcFAOD and the impact of the disease on different areas of life including the development of coping strategies; (2) explore the differences between mothers and fathers with respect to the different areas of professional, private and family life; and (3) generate an understanding of the unmet needs to further improve the management of lcFAOD.…”

Understanding patient, caregiver, and healthcare provider perspectives of the management of long-chain fatty acid oxidation disorders

“…Although the impact of LC-FAODs on quality of life, work, school, physical activity, and social participation for patients and caregivers has been reported previously, 9 , 11 the impact of LC-FAODs at specific life stages and in the context of the healthcare system has not yet been explored. To gain insights into these issues, we present our perspectives and experiences.…”

“…For example, some caregivers report via surveys and interviews that they have had to leave their jobs to accommodate the many lifestyle changes required by their children, 9 , 10 such as managing exposure to triggers of acute episodic crises and monitoring diet and weight, periods of fasting and associated energy levels, and signs and symptoms of decompensation. 11 The need to prevent fasting by feeding at regular and frequent intervals can present particular challenges, especially in the early days after diagnosis. 3 These ongoing and significant challenges affect many aspects of patient and caregiver quality of life, including social and physical functioning, interpersonal relationships, work, schooling, emotional and psychological well-being, daily activities, and sleep.…”

“… 3 These ongoing and significant challenges affect many aspects of patient and caregiver quality of life, including social and physical functioning, interpersonal relationships, work, schooling, emotional and psychological well-being, daily activities, and sleep. 9 , 11 , 12 …”