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. To understand the burden of illness of FCS on Canadian patients’ lives. 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. 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%). 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.

中文翻译：

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加拿大患者家族性乳糜微粒血症综合征的负担。

家族性乳糜微粒血症综合征（FCS）是一种罕见的常染色体隐性遗传疾病，其特征是由于脂蛋白脂肪酶缺乏而导致持续的极端高甘油三酯血症。由于高患病率，加拿大是FCS研究的重要地区。然而，文献中并未充分解决加拿大患者的疾病负担和生活质量。了解FCS疾病对加拿大患者生活的负担。IN-FOCUS是一项基于全球网络的调查，向包括加拿大患者在内的FCS患者开放。这项调查收集了有关诊断经验，症状，合并症，疾病管理以及对多个生命维度的影响的信息。共有37位加拿大患者完成了IN-FOCUS调查。尽管有89％的患者报告有FCS家族史，但他们在FCS诊断之前平均看了4位医生。除了与FCS相关的合并症外，患者还会经历多种身体，情感和认知症状。值得注意的是，回答调查的人中有35％患有急性胰腺炎，每位患者平均有14次终生发作。在之前的12个月中，有46％的患者接受了FCS相关的住院治疗，平均住院3晚。所有受访者都限制了脂肪的摄入，其中27％的人接受了极低脂的饮食。尽管如此，仍有100％的患者报告了空腹TG水平高于正常范围。FCS影响了几乎所有患者的职业选择（97％）和所有兼职，残疾人或家庭主妇的患者的就业状况，导致许多（> 75％）选择低于其能力水平的职业。此外，2/3的患者报告FCS对他们是否生孩子的决定有重大影响。大多数人报告严重干扰了他们的情绪/心理健康，社会关系，大多数人担心FCS对他们健康的长期影响（89％）。这项研究提供了第一个也是最大的研究，以调查FCS对患者的多方面的社会心理和认知影响。加拿大患有FCS的患者承受着巨大的多方面负担，从而降低了他们的生活质量，就业机会，社会关系以及心理/情感健康。这些结果凸显了对更高的疾病认识，改善的临床诊断，对异源症状的更广泛临床管理以及对FCS更有效的治疗选择的需求。