Clinical Lipidology Unit, Department of Medicine, Université de Montréal, Chicoutimi, QC, Canada.
ECOGENE-21 Clinical and Translational Research Center, Department of Medicine, Université de Montréal, 350 Jacques-Cartier B210, Chicoutimi, Québec, G7H 7P2, Canada.
Lipids Health Dis. 2020 Jun 2;19(1):120. doi: 10.1186/s12944-020-01302-x.
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.
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病，其特征是脂蛋白脂肪酶缺乏导致持续性极度高甘油三酯血症。由于高发病率，加拿大是 FCS 研究的重要地区。然而，加拿大患者的疾病负担和生活质量在文献中并未得到充分解决。
了解 FCS 对加拿大患者生活的疾病负担。
IN-FOCUS 是一项全球性的在线调查，面向 FCS 患者开放，包括加拿大的患者。该调查收集了诊断经验、症状、合并症、疾病管理以及对多个生活维度的影响等信息。
共有 37 名加拿大患者完成了 IN-FOCUS 调查。尽管 89%的患者报告有 FCS 家族史，但他们在 FCS 诊断前平均看了 4 位医生。患者除了 FCS 相关合并症外，还经历多种身体、情绪和认知症状。值得注意的是，35%的患者曾经历过急性胰腺炎，平均每位患者有 14 次发作。在过去的 12 个月中，46%的患者因 FCS 相关疾病住院，平均住院 3 晚。所有受访者都限制脂肪摄入，其中 27%的人遵循极低脂肪饮食。尽管如此，100%的患者报告空腹甘油三酯水平高于正常范围。FCS 几乎影响了所有患者（97%）的职业选择和所有兼职、残疾或家庭主妇患者的就业状况，导致许多患者（＞75%）选择低于自身能力的职业。此外，2/3的患者报告 FCS 对他们是否要孩子的决定有重大影响。大多数患者报告说，FCS 对他们的情绪/心理健康、社会关系产生了重大干扰，大多数患者担心 FCS 对他们健康的长期影响（89%）。
这项研究首次也是最大规模地调查了 FCS 对患者多方面的心理社会和认知影响。加拿大 FCS 患者经历了严重的多方面负担，降低了他们的生活质量、就业机会、社会关系和情绪/心理健康。这些结果强调了需要提高疾病意识、改善临床诊断、为异质症状提供更广泛的临床管理以及为 FCS 提供更有效的治疗选择。
