Andres Gelrud1, Karren R Williams2, Andrew Hsieh2, Andrea R Gwosdow2, Alan Gilstrap2, Alan Brown3. 1. a Center for Pancreatic Disorders , University of Chicago , Chicago , IL , USA. 2. b Akcea Therapeutics Inc, A Subsidiary of Ionis Pharmaceuticals , Cambridge , MA , USA. 3. c Division of Cardiology , Advocate Lutheran General Hospital , Park Ridge , IL , USA.
Abstract
BACKGROUND: 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. METHODS: A panel of FCS patients and caregivers was assembled to discuss and assess the clinical and psychosocial burden of FCS. RESULTS: 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. CONCLUSIONS: 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.
BACKGROUND: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. METHODS: A panel of FCS patients and caregivers was assembled to discuss and assess the clinical and psychosocial burden of FCS. RESULTS: 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. CONCLUSIONS: 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.
Entities:
Keywords:
Burden of disease; FCS; LPLD; chylomicronemia; familial chylomicronemia syndrome; hypertriglyceridemia; lipoprotein lipase deficiency; quality of life
Authors: Amitabh V Nimonkar; Stephen Weldon; Kevin Godbout; Darrell Panza; Susan Hanrahan; Rose Cubbon; Fangmin Xu; John W Trauger; Jiaping Gao; Andrei Voznesensky Journal: J Biol Chem Date: 2019-10-23 Impact factor: 5.157