The burden of familial chylomicronemia syndrome: Results from the global IN-FOCUS study

Davidson, Michael; Stevenson, Michael; Hsieh, Andrew C.; Ahmad, Zahid; Lennep, Jeanine Roeters van; Crowson, Caroline; Witztum, Joseph L.

doi:10.1016/j.jacl.2018.04.009

Cited by 51 publications

(71 citation statements)

References 8 publications

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“…The IN‐FOCUS study, a web‐based research survey of 166 FCS patients in 10 countries, also described decreased quality of life. Most patients reported that their disease influenced their career choice and employment status ; 92% of patients reported impaired ability to fulfil responsibilities at school or work . Because the average length of hospitalization for HTG‐associated acute pancreatitis is 6.5 days , these patients reported missing an average of 30 workdays per year, compared to 3.5 workdays missed per year for the average American in the same period .…”

Section: Evidence Used In This Reviewmentioning

confidence: 99%

Familial chylomicronemia syndrome: an under‐recognized cause of severe hypertriglyceridaemia

et al. 2020

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Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder of chylomicron metabolism causing severe elevation of triglyceride (TG) levels (>10 mmol L−1). This condition is associated with a significant risk of recurrent acute pancreatitis (AP). AP caused by hypertriglyceridaemia (HTG) has been associated with a worse prognosis and higher mortality rates compared to pancreatitis of other aetiology. Despite its association with poor quality of life and increased lifelong risk of HTG‐AP, few healthcare providers are familiar with FCS. Because this condition is under‐recognized, the majority of FCS patients are diagnosed after age 20 often after consulting several physicians. Although other forms of severe HTG such as multifactorial chylomicronemia have been associated with high atherosclerotic cardiovascular disease (ASCVD) risk and metabolic abnormalities, ASCVD and metabolic syndrome are not usually observed in FCS patients. Because FCS is a genetic condition, the optimal diagnosis strategy remains genetic testing. The presence of bi‐allelic pathogenic mutations in LPL, APOC2, GPIHBP1, APOA5 or LMF1 genes confirms the diagnosis. However, some cases of FCS caused by autoantibodies against LPL or GPIHBP1 proteins have also been reported. Furthermore, a clinical score for the diagnosis of FCS has been proposed but needs further validation. Available treatment options to lower triglycerides such as fibrates or omega‐3 fatty acids are not efficacious in FCS patients. Currently, the cornerstone of treatment remains a lifelong very low‐fat diet, which prevents the formation of chylomicrons. Finally, inhibitors of apo C‐III and ANGPTL3 are in development and may eventually constitute additional treatment options for FCS patients.

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Section: Evidence Used In This Reviewmentioning

confidence: 99%

Familial chylomicronemia syndrome: an under‐recognized cause of severe hypertriglyceridaemia

et al. 2020

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“…Quality of life (QoL) is compromised in patients with rare diseases. A recent study in patients with FCS (N = 166) documented the significant burden of illness and reduced QoL [3].…”

Section: Introductionmentioning

confidence: 99%

“…FCS, formerly referred to as lipoprotein lipase deficiency (LPLD) in some literature, is accompanied by significant disease burden, including acute pancreatitis, recurrent abdominal pain, hepatosplenomegaly, eruptive xanthomas, lipemia retinalis, and fatigue [2]. Acute pancreatitis presents the most significant risk in patients with FCS, with significant complications including potentially fatal acute pancreatitis [3]. Approximately 67% [4] to 76% [5] of patients with FCS have experienced acute pancreatitis.…”

Section: Introductionmentioning

confidence: 99%

“…Patients with FCS reported cognitive and emotional symptoms such as difficulty concentrating (16%), impaired judgment (11%), anxiety/fear/worry about pain or an attack of acute pancreatitis (34%), their health (26%), food (20%), and feeling out of control or helpless due to FCS (17%). These symptoms were experienced daily to monthly [3], many with a high magnitude of severity. FCS also had substantial impact on the patients' professional lives with only 23% reporting current full-time employment [3].…”

Section: Introductionmentioning

confidence: 99%

“…These symptoms were experienced daily to monthly [3], many with a high magnitude of severity. FCS also had substantial impact on the patients' professional lives with only 23% reporting current full-time employment [3]. Forty percent of patients with FCS reported being unemployed and a majority (94%) of unemployed or part-time employed patients with FCS attributed their employment status to the disease [3].…”

Section: Introductionmentioning

confidence: 99%

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Evaluating the impact of peer support and connection on the quality of life of patients with familial chylomicronemia syndrome

Salvatore

Gilstrap

Williams

et al. 2018

Expert Opinion on Orphan Drugs

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Background: Familial chylomicronemia syndrome (FCS) is a disease caused by impaired lipoprotein lipase function and characterized by chylomicronemia, reduced quality of life (QoL) and risk of pancreatitis. The aim of the current study is to assess if QoL can be improved by patients being connected to other patients. Methods: Respondents (N = 50) categorized into 3 groups (actively connected, passively connected and non-connected) self-reported their current or comparative assessments of QoL before and after connection with FCS-focused support organizations using a customized retrospective web-based survey. Results: Connected respondents showed significantly improved perceptions of overall health, disease severity, motivation to take care of health and emotional well-being (p ≤ 0.05). Any level of connection produced noticeable benefits, but active connection in the form of regular interaction with other patients reported the greatest improvements. Additionally, respondents reported higher levels of satisfaction with their primary treating physician after being connected. The majority of patients (62%) reported joining support groups following referrals from their physicians. Conclusions: Similar to other disease states, connecting with other patients with FCS had a positive impact on aspects of quality of life. Physicians may play a central role in referring their patients with FCS to support groups.

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

et al. 2022

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Purpose Familial chylomicronemia syndrome (FCS) is a rare genetic disorder characterized by high triglyceride levels, significant disease burden, and negative impacts on health-related quality of life. This project aimed to create a PROMIS-based patient-reported outcome measure that represents valid and important concerns for patients with FCS. Methods We reviewed the literature and data from a previous qualitative study of FCS to identify key FCS symptoms and impacts, which were mapped to PROMIS domains to create a pool of eligible items. Candidate items were reduced per expert feedback and patients with FCS completed cognitive interviews to confirm content validity and measure content. Results Literature and qualitative data review identified ten key symptoms and 12 key impacts of FCS, including abdominal pain, fatigue, difficulty thinking, and worry about pancreatitis attacks. We identified 96 items primarily from PROMIS, supplemented with items from the Quality of Life in Neurological Disorders™ (Neuro-QoL™) and the Functional Assessment of Chronic Illness Therapy (FACIT) measurement systems. This pool was reduced to 32 candidate items, which were assessed via cognitive interviews with eight participants with FCS. Cognitive interview results and additional expert feedback led to the removal of four items and finalization of the PROMIS Profile v1.0—familial chylomicronemia syndrome (FCS) 28. Conclusions The PROMIS Profile v1.0—familial chylomicronemia syndrome (FCS) 28 provides strong content validity for assessing quality of life among patients with FCS. The benefits of PROMIS, including norm-referenced mean values for each measure, will facilitate comparison of patients with FCS to other clinical populations.

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The burden of familial chylomicronemia syndrome: Results from the global IN-FOCUS study

Cited by 51 publications

References 8 publications

Familial chylomicronemia syndrome: an under‐recognized cause of severe hypertriglyceridaemia

Familial chylomicronemia syndrome: an under‐recognized cause of severe hypertriglyceridaemia

Evaluating the impact of peer support and connection on the quality of life of patients with familial chylomicronemia syndrome

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

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