Gelrud Andres, Williams Karren R, Hsieh Andrew, Gwosdow Andrea R, Gilstrap Alan, Brown Alan
a Center for Pancreatic Disorders , University of Chicago , Chicago , IL , USA.
b Akcea Therapeutics Inc, A Subsidiary of Ionis Pharmaceuticals , Cambridge , MA , USA.
Expert Rev Cardiovasc Ther. 2017 Nov;15(11):879-887. doi: 10.1080/14779072.2017.1372193. Epub 2017 Sep 11.
Familial chylomicronemia syndrome (FCS) is a rare, inherited lipid disorder characterized by high levels of plasma triglycerides and chylomicrons, which may cause life-threatening acute pancreatitis. Currently no FDA-approved treatment exists. Management is low-fat diet (<20g fat/day), which is difficult to maintain. With the restricted diet, triglycerides may remain elevated. We conducted discussions with patients and caregivers to better understand the burden of FCS from their perspectives.
A panel of FCS patients and caregivers was assembled to discuss and assess the clinical and psychosocial burden of FCS.
Ten adults with FCS (median age 48 yr) and their spouses/caregivers were asked specific questions about their experiences living with FCS. Patients with FCS stated their symptoms were abdominal pain, nausea, diarrhea, constipation, bloating, and fatigue. Patients reported a median of 34 episodes of acute pancreatitis over their lifetimes; half of these led to hospitalizations, each with an average stay of 6.5 days. The psychosocial burden of FCS was primarily associated with the restricted diet, anxiety and stress of FCS.
Living with FCS imposes a significant clinical and psychosocial burden on patients and caregivers, who reported reduced quality of life, limited employment opportunities, socialization and increased burden on family.
家族性乳糜微粒血症综合征（FCS）是一种罕见的遗传性脂质紊乱疾病，其特征为血浆甘油三酯和乳糜微粒水平升高，这可能导致危及生命的急性胰腺炎。目前尚无美国食品药品监督管理局（FDA）批准的治疗方法。治疗措施为低脂饮食（<20克脂肪/天），但难以维持。在这种受限饮食情况下，甘油三酯水平可能仍会升高。我们与患者及护理人员进行了讨论，以便从他们的角度更好地了解FCS的负担。
组建了一个FCS患者及护理人员小组，以讨论和评估FCS的临床及社会心理负担。
询问了10名成年FCS患者（中位年龄48岁）及其配偶/护理人员关于他们与FCS共处经历的具体问题。FCS患者表示他们的症状有腹痛、恶心、腹泻、便秘、腹胀和疲劳。患者报告其一生中急性胰腺炎发作的中位数为34次；其中一半导致住院，每次平均住院6.5天。FCS的社会心理负担主要与受限饮食、FCS带来的焦虑和压力有关。
与FCS共处给患者和护理人员带来了重大的临床及社会心理负担，他们报告生活质量下降、就业机会有限、社交受限以及家庭负担加重。
