The burden of familial chylomicronemia syndrome in Canadian patients

Abstract

Background Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder characterized by persistent extreme hypertriglyceridemia as a result of lipoprotein lipase deficiency. Canada is an important region for FCS research due to the high prevalence rates. The burden of illness and quality of life of Canadian patients, however, have been inadequately addressed in the literature. Objective To understand the burden of illness of FCS on Canadian patients’ lives. Methods IN-FOCUS is a global web-based survey open to patients with FCS, including patients in Canada. This survey captured information on diagnostic experience, symptoms, comorbidities, disease management, and impact on multiple life dimensions. Results A total of 37 Canadian patients completed the IN-FOCUS survey. Patients saw a mean of 4 physicians before their FCS diagnosis despite 89% reporting an FCS family history. Patients experience multiple physical, emotional, and cognitive symptoms in addition to FCS-related comorbidities. Notably, 35% of those who answered the survey have experienced acute pancreatitis, averaging 14 lifetime episodes per patient. In the preceding 12 months, 46% of patients had an FCS-related hospitalization, averaging 3 nights’ stay. All respondents restricted fat intake, with 27% following an extremely low-fat diet. Despite this, 100% of patients reported fasting TG levels above the normal range. FCS impacted career choice in nearly all patients (97%) and employment status in all patients who were employed part time, disabled, or homemakers, causing many (> 75%) to choose careers below their level of abilities. Furthermore, 2/3 of patients reported FCS had a significant impact on their decision regarding whether to have children. Most report significant interference with their emotional/mental well-being, social relationships, and the majority were concerned about the long-term impact of FCS on their health (89%). Conclusions This study provides the first and largest study to investigate the multi-faceted psychosocial and cognitive impacts of FCS on patients. Canadian patients with FCS experience significant multi-faceted burdens that diminish their quality of life, employment opportunities, social relationships, and mental/emotional well-being. These results highlight the need for greater disease awareness, improved clinical diagnosis, broader clinical management for heterogenous symptoms, and more effective treatment options for FCS.

Qualitative development of the PROMIS Profile v1.0-Familial Chylomicronemia Syndrome (FCS) 28

“…We identified nine key published articles about patient-reported symptoms and HRQOL in the context of FCS [ 3 – 11 ]. In the prior qualitative study by Davidson and colleagues, FCS interview participants reported 16 symptoms of FCS [ 18 ].…”

“…Familial chylomicronemia syndrome (FCS) is a rare metabolic disorder characterized by high triglyceride levels and recurrent, severe bouts of acute pancreatitis [ 1 , 2 ]. Despite significant, negative impacts of FCS on individual’s health-related quality of life (HRQOL), few detailed investigations of FCS symptoms and HRQOL are available [ 3 ]. The limited available data suggest a significant disease burden and several noteworthy symptoms and disease impacts, including pain, fatigue, brain fog, and stigma [ 3 – 11 ].…”

“…Despite significant, negative impacts of FCS on individual’s health-related quality of life (HRQOL), few detailed investigations of FCS symptoms and HRQOL are available [ 3 ]. The limited available data suggest a significant disease burden and several noteworthy symptoms and disease impacts, including pain, fatigue, brain fog, and stigma [ 3 – 11 ]. However, it remains unclear which symptoms are most impactful and important from the perspective of patients with FCS.…”

Analyses of Familial Chylomicronemia Syndrome And Multifactorial Chylomicronemia In Colombia 2010-2020: A Cross-Sectional Study

“…It is estimated that there could be about 3,000 to 5,000 patients worldwide with FCS (7). At the general level, it has been reported prevalence rates of 1-2 cases per 1,000,000 inhabitants (8), and in some populations with a founder effect, prevalence rates of 1 case per 10,000 inhabitants can be found (9).…”

Rare Treatments for Rare Dyslipidemias: New Perspectives in the Treatment of Homozygous Familial Hypercholesterolemia (HoFH) and Familial Chylomicronemia Syndrome (FCS)

“…FCS patients also show other signs and symptoms represented by abdominal eruptive xanthomas, lipemia retinalis, and hepatosplenomegaly. Neurological symptoms, such as irritability, memory loss, and depression, have been documented as well [11]. The treatment for FCS aims at reducing the risk of AP and associated symptoms by decreasing TG below the threshold of 10 mmol/L.…”