The burden of familial chylomicronemia syndrome from the patients’ perspective

<p><b>Background</b>: 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.</p> <p><b>Methods</b>: A panel of FCS patients and caregivers was assembled to discuss and assess the clinical and psychosocial burden of FCS.</p> <p><b>Results</b>: 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.</p> <p><b>Conclusions</b>: 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.</p

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

<p><b>Background</b>: 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.</p> <p><b>Methods</b>: Respondents (<i>N</i> = 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.</p> <p><b>Results</b>: Connected respondents showed significantly improved perceptions of overall health, disease severity, motivation to take care of health and emotional well-being (<i>p</i> ≤ 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.</p> <p><b>Conclusions</b>: 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.</p