Michael Davidson1, Michael Stevenson2, Andrew Hsieh2, Zahid Ahmad3, Jeanine Roeters van Lennep4, Caroline Crowson5, Joseph L Witztum6. 1. Department of Medicine, University of Chicago, Chicago, IL, USA. Electronic address: mdavidso@bsd.uchicago.edu. 2. Akcea Therapeutics, Cambridge, MA, USA. 3. Division of Nutrition and Metabolic Disease, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX, USA. 4. Department of Internal Medicine, Erasmus Medical Center, Rotterdam, Netherlands. 5. Trinity Partners, Waltham, MA, USA. 6. Division of Endocrinology and Metabolism, Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Abstract
BACKGROUND: Familial chylomicronemia syndrome (FCS) is a rare genetic disorder characterized by a deficiency of lipoprotein lipase leading to extreme hypertriglyceridemia. Patients' burden of illness and quality of life have been poorly addressed in the literature. OBJECTIVE: To understand the ways in which FCS impacts patients' lives. METHODS: Investigation of Findings and Observations Captured in Burden of Illness Survey (IN-FOCUS) was a global web-based survey open to patients with FCS. Survey questions captured information on diagnostic experience, symptoms, comorbidities, disease management, and impact on multiple life dimensions. RESULTS: Of 166 patients in 10 countries, 62% were from the United States and 70% were male. Median age at the time of the survey was 33 years, and median age at diagnosis was 9 years. Patients saw a mean of 5 physicians from different specialties before their FCS diagnosis and experienced multiple physical, emotional, and cognitive symptoms on a daily to monthly basis; 40% were admitted to the hospital in the past year. A lifetime mean of 13 episodes occurred in the 40% of patients with FCS-related acute pancreatitis. Most patients (>90%) found managing fat intake to be difficult, and 53% experienced symptoms despite adherence to their diets. FCS impacted employment status (94%), emotional/mental well-being (58%-66%), and social relationships (68%-82%). CONCLUSIONS: Patients with FCS experience significant clinical and psychosocial burdens that reduce their quality of life and limit employment and social interactions. Increased awareness among healthcare professionals of the multifaceted nature of the FCS disease burden may help expedite diagnosis and timely institution of treatment and broaden management considerations.
BACKGROUND:Familial chylomicronemia syndrome (FCS) is a rare genetic disorder characterized by a deficiency of lipoprotein lipase leading to extreme hypertriglyceridemia. Patients' burden of illness and quality of life have been poorly addressed in the literature. OBJECTIVE: To understand the ways in which FCS impacts patients' lives. METHODS: Investigation of Findings and Observations Captured in Burden of Illness Survey (IN-FOCUS) was a global web-based survey open to patients with FCS. Survey questions captured information on diagnostic experience, symptoms, comorbidities, disease management, and impact on multiple life dimensions. RESULTS: Of 166 patients in 10 countries, 62% were from the United States and 70% were male. Median age at the time of the survey was 33 years, and median age at diagnosis was 9 years. Patients saw a mean of 5 physicians from different specialties before their FCS diagnosis and experienced multiple physical, emotional, and cognitive symptoms on a daily to monthly basis; 40% were admitted to the hospital in the past year. A lifetime mean of 13 episodes occurred in the 40% of patients with FCS-related acute pancreatitis. Most patients (>90%) found managing fat intake to be difficult, and 53% experienced symptoms despite adherence to their diets. FCS impacted employment status (94%), emotional/mental well-being (58%-66%), and social relationships (68%-82%). CONCLUSIONS:Patients with FCS experience significant clinical and psychosocial burdens that reduce their quality of life and limit employment and social interactions. Increased awareness among healthcare professionals of the multifaceted nature of the FCS disease burden may help expedite diagnosis and timely institution of treatment and broaden management considerations.
Authors: Louis St L O'Dea; James MacDougall; Veronica J Alexander; Andres Digenio; Brant Hubbard; Marcello Arca; Patrick M Moriarty; John J P Kastelein; Eric Bruckert; Handrean Soran; Joseph L Witztum; Robert A Hegele; Daniel Gaudet Journal: J Endocr Soc Date: 2019-10-11
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
Authors: Daniel Gaudet; Michael Stevenson; Nelly Komari; Grace Trentin; Caroline Crowson; Nandini Hadker; Sophie Bernard Journal: Lipids Health Dis Date: 2020-06-02 Impact factor: 3.876